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338 results on '"Kuentz , Paul"'

1. GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

Author: Zanetti, Andrea, Dujardin, Gwendal, Fares-Taie, Lucas, Amiel, Jeanne, Roger, Jérôme E., Audo, Isabelle, Robert, Matthieu P., David, Pierre, Jung, Vincent, Goudin, Nicolas, Guerrera, Ida Chiara, Moriceau, Stéphanie, Amana, Danielle, Assia Batzir, Nurit, Bachar-Zipori, Anat, Basel Salmon, Lina, Boddaert, Nathalie, Briault, Sylvain, Bruel, Ange-Line, Costet-Fighiera, Christine, Coutinho Santos, Luisa, Gitiaux, Cyril, Kaminska, Karolina, Kuentz, Paul, Orenstein, Naama, Philip-Sarles, Nicole, Plutino, Morgane, Quinodoz, Mathieu, Santos, Cristina, Sigaudy, Sabine, Soeiro e Sá, Mariana, Sofrin, Efrat, Sousa, Ana Berta, Sousa-Luis, Rui, Thauvin-Robinet, Christel, van Dijk, Erwin L., Zaafrane-Khachnaoui, Khaoula, Zur, Dinah, Kaplan, Josseline, Rivolta, Carlo, Rozet, Jean-Michel, and Perrault, Isabelle
Published: 2024
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2. Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly

Author: Ghaffar, Amama, Akhter, Tehmeena, Strømme, Petter, Misceo, Doriana, Khan, Amjad, Frengen, Eirik, Umair, Muhammad, Isidor, Bertrand, Cogné, Benjamin, Khan, Asma A., Bruel, Ange-Line, Sorlin, Arthur, Kuentz, Paul, Chiaverini, Christine, Innes, A. Micheil, Zech, Michael, Baláž, Marek, Havrankova, Petra, Jech, Robert, Ahmed, Zubair M., Riazuddin, Sheikh, and Riazuddin, Saima
Published: 2024
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3. BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.

Author: Engel, Camille, Valence, Stéphanie, Delplancq, Geoffroy, Maroofian, Reza, Accogli, Andrea, Agolini, Emanuele, Alkuraya, Fowzan, Baglioni, Valentina, Bagnasco, Irene, Becmeur-Lefebvre, Mathilde, Bertini, Enrico, Borggraefe, Ingo, Brischoux-Boucher, Elise, Bruel, Ange-Line, Brusco, Alfredo, Bubshait, Dalal, Cabrol, Christelle, Cilio, Maria, Cornet, Marie-Coralie, Coubes, Christine, Danhaive, Olivier, Delague, Valérie, Denommé-Pichon, Anne-Sophie, Di Giacomo, Marilena, Doco-Fenzy, Martine, Engels, Hartmut, Cremer, Kirsten, Gérard, Marion, Gleeson, Joseph, Heron, Delphine, Goffeney, Joanna, Guimier, Anne, Harms, Frederike, Houlden, Henry, Iacomino, Michele, Kaiyrzhanov, Rauan, Kamien, Benjamin, Karimiani, Ehsan, Kraus, Dror, Kuentz, Paul, Kutsche, Kerstin, Lederer, Damien, Massingham, Lauren, Mignot, Cyril, Morris-Rosendahl, Déborah, Nagarajan, Lakshmi, Odent, Sylvie, Ormières, Clothilde, Partlow, Jennifer, Pasquier, Laurent, Penney, Lynette, Philippe, Christophe, Piccolo, Gianluca, Poulton, Cathryn, Putoux, Audrey, Rio, Marlène, Rougeot, Christelle, Salpietro, Vincenzo, Scheffer, Ingrid, Schneider, Amy, Srivastava, Siddharth, Straussberg, Rachel, Striano, Pasquale, Valente, Enza, Venot, Perrine, Villard, Laurent, Vitobello, Antonio, Wagner, Johanna, Wagner, Matias, Zaki, Maha, Zara, Federizo, Lesca, Gaetan, Yassaee, Vahid, Miryounesi, Mohammad, Hashemi-Gorji, Farzad, Beiraghi, Mehran, Ashrafzadeh, Farah, Galehdari, Hamid, Walsh, Christopher, Novelli, Antonio, Tacke, Moritz, Sadykova, Dinara, Maidyrov, Yerdan, Koneev, Kairgali, Shashkin, Chingiz, Capra, Valeria, Zamani, Mina, Van Maldergem, Lionel, Burglen, Lydie, and Piard, Juliette
Subjects: Humans, Nuclear Proteins, Epilepsy, Phenotype, Genotype, Genetic Association Studies, Neurodegenerative Diseases, Atrophy
Abstract: BRAT1 biallelic variants are associated with rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL), and neurodevelopmental disorder associating cerebellar atrophy with or without seizures syndrome (NEDCAS). To date, forty individuals have been reported in the literature. We collected clinical and molecular data from 57 additional cases allowing us to study a large cohort of 97 individuals and draw phenotype-genotype correlations. Fifty-nine individuals presented with BRAT1-related RMFSL phenotype. Most of them had no psychomotor acquisition (100%), epilepsy (100%), microcephaly (91%), limb rigidity (93%), and died prematurely (93%). Thirty-eight individuals presented a non-lethal phenotype of BRAT1-related NEDCAS phenotype. Seventy-six percent of the patients in this group were able to walk and 68% were able to say at least a few words. Most of them had cerebellar ataxia (82%), axial hypotonia (79%) and cerebellar atrophy (100%). Genotype-phenotype correlations in our cohort revealed that biallelic nonsense, frameshift or inframe deletion/insertion variants result in the severe BRAT1-related RMFSL phenotype (46/46; 100%). In contrast, genotypes with at least one missense were more likely associated with NEDCAS (28/34; 82%). The phenotype of patients carrying splice variants was variable: 41% presented with RMFSL (7/17) and 59% with NEDCAS (10/17).
Published: 2023

4. Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection

Author: Abel, Laurent, Aiuti, Alessandro, Al-Muhsen, Saleh, Al-Mulla, Fahd, Amara, Ali, Anderson, Mark S., Andreakos, Evangelos, Arias, Andrés A., Arkin, Lisa M., Feldman, Hagit Baris, Bastard, Paul, Belot, Alexandre, Biggs, Catherine M., Bogunovic, Dusan, Bolze, Alexandre, Bondarenko, Anastasiia, Borghesi, Alessandro, Bousfiha, Ahmed A., Brodin, Petter, Bryceson, Yenan, Butte, Manish J., Casanova, Jean-Laurent, Casari, Giorgio, Christodoulou, John, Cobat, Aurélie, Colobran, Roger, Condino-Neto, Antonio, Constantinescu, Stefan N., Cooper, Megan A., Dalgard, Clifton L., Desai, Murkesh, Drolet, Beth A., Duval, Xavier, El Baghdadi, Jamila, Eloy, Philippine, Espinosa-Padilla, Sara, Fellay, Jacques, Flores, Carlos, Franco, José Luis, Froidure, Antoine, Gorochov, Guy, Gregersen, Peter K., Grimbacher, Bodo, Haerynck, Filomeen, Hagin, David, Halwani, Rabih, Hammarström, Lennart, Heath, James R., Hsieh, Elena W.Y., Husebye, Eystein, Imai, Kohsuke, Itan, Yuval, Jouanguy, Emmanuelle, Kaja, Elżbieta, Karamitros, Timokratis, Kisand, Kai, Ku, Cheng-Lung, Lau, Yu-Lung, Ling, Yun, Lucas, Carrie L., Maniatis, Tom, Mansouri, Davood, Maródi, László, Mentré, France, Meyts, Isabelle, Milner, Joshua D., Mironska, Kristina, Mogensen, Trine H., Morio, Tomohiro, Ng, Lisa F.P., Notarangelo, Luigi D., Novelli, Antonio, Novelli, Giuseppe, O'Farrelly, Cliona, Okada, Satoshi, Okamoto, Keisuke, Ozcelik, Tayfun, Pan-Hammarström, Qiang, Pape, Jean W., Perez de Diego, Rebeca, Perez-Tur, Jordi, Perlin, David S., Pesole, Graziano, Planas, Anna M., Prando, Carolina, Pujol, Aurora, Puel, Anne, Quintana-Murci, Lluis, Ramaswamy, Sathishkumar, Renia, Laurent, Resnick, Igor, Rodríguez-Gallego, Carlos, Sancho-Shimizu, Vanessa, Sediva, Anna, Seppänen, Mikko R.J., Shahrooei, Mohammad, Shcherbina, Anna, Slaby, Ondrej, Snow, Andrew L., Soler-Palacín, Pere, Soumelis, Vassili, Spaan, András N., Tancevski, Ivan, Tangye, Stuart G., Tayoun, Ahmad Abou, Temel, Şehime Gülsün, Thorball, Christian, Tiberghien, Pierre, Trouillet-Assant, Sophie, Turvey, Stuart E., Uddin, K. M. Furkan, Uddin, Mohammed J., van de Beek, Diederik, Vinh, Donald C., von Bernuth, Horst, Wauters, Joost, Zatz, Mayana, Zawadzki, Pawel, Zhang, Qian, Zhang, Shen-Ying, Bureau, Serge, Vacher, Yannick, Gysembergh-Houal, Anne, Demerville, Lauren, Benleulmi-Chaachoua, Abla, Abad, Sebastien, Abassi, Radhiya, Abdellaoui, Abdelrafie, Abdelmalek, Abdelkrim, Abdoul, Hendy, Abergel, Helene, Abeud, Fariza, Abgrall, Sophie, Abisror, Noemie, Adechian, Marylise, Aderdour, Nordine, Admane, Hakeem Farid, Adnet, Frederic, Afritt, Sara, Agostini, Helene, Aguilar, Claire, Agut, Sophie, Aiello, Tommaso Francesco, Kaci, Marc Ait, Oufella, Hafid Ait, Ajeenthiravasan, Gokula, Alauzy, Virginie, Alby-Laurent, Fanny, Allard, Lucie, Alyanakian, Marie-Alexandra, Borrero, Blanca Amador, Amam, Sabrina, Amrouche, Lucile, Andronikof, Marc, Anglicheau, Dany, Anguel, Nadia, Annane, Djillali, Aounzou, Mohammed, Aparicio, Caroline, Aratus, Gladys, Arlet, Jean-Benoit, Arzoine, Jeremy, Aslangul, Elisabeth, Assefi, Mona, Aubry, Adeline, Audiffred, Laetitia, Audureau, Etienne, Auger, Christelle Nathalie, Auregan, Jean-Charles, Awotar, Celine, Milla, Sonia Ayllon, Azan, Delphine, Azemar, Laurene, Azzouguen, Billal, Elrufaai, Marwa Bachir, Badsi, Aïda, Bakouboula, Prissile, Balcerowiak, Coline, Balde, Fanta, Baldivia, Elodie, Bangamingo, Eliane-Flore, Baptiste, Amandine, Baran-Marszak, Fanny, Barau, Caroline, Barget, Nathalie, Baronnet, Flore, Barthelemy, Romain, Baudel, Jean-Luc, Baudry, Camille, Baudry, Elodie, Beaugerie, Laurent, Belamri, Adel, Belaube, Nicolas, Belilita, Rhida, Bellassen, Pierre, Belmokhtar, Rawan, Beltran, Isabel, Benainous, Ruben, Benallaoua, Mourad, Benamouzig, Robert, Benbara, Amélie, Benhida, Jaouad, Benkhelouf, Anis, Benlagha, Jihene, Benmostafa, Chahinez, Benothmane, Skander, Bentifraouine, Miassa, Berard, Laurence, Bernier, Quentin, Berti, Enora, Bertier, Astrid, Berton, Laure, Bessis, Simon, Beurton, Alexandra, Bianco, Celine, Bianquis, Clara, Bidar, Frank, Blanche, Philippe, Blayau, Clarisse, Bleibtreu, Alexandre, Blin, Emmanuelle, Bloch-Queyrat, Coralie, Boissier, Marie-Christophe, Bollens, Diane, Bolzoni, Marion, Bompard, Rudy pierre, Bonnet, Nicolas, Bonnouvrier, Justine, Botha, Shirmonecrystal, Boucenna, Wissam, Bouchama, Fatiha, Bouchaud, Olivier, Bouchghoul, Hanane, Boudjebla, Taoueslylia, Boudjema, Noel, Bouffard, Catherine, Bougle, Adrien, Bouguerra, Meriem, Bouras, Leila, Bourcier, Agnes, Durand, Anne Bourgarit, Bourrier, Anne, Bouscarat, Fabrice, Bouvry, Diane, Bouziri, Nesrine, Bouzrara, Ons, Bribier, Sarah, Brugier, Delphine, Brunel, Melanie, Bui, Eida, Buisson, Anne, Bukreyeva, Iryna, Bureau, Côme, Cadranel, Jacques, Cailhol, Johann, Calin, Ruxandra, Vega, Clara Campos, Canavaggio, Pauline, Cancella, Marta, Cantin, Delphine, Cao, Albert, Carbillon, Lionel, Carlier, Nicolas, Cassard, Clementine, Castor, Guylaine, Cauchy, Marion, Cha, Olivier, Chaigne, Benjamin, Challal, Salima, Champion, Karine, Chariot, Patrick, Chas, Julie, Chauveau, Simon, Chauvin, Anthony, Chauvin, Clement, Chavarot, Nathalie, Chebbout, Kamélia, Cherai, Mustapha, Cherubini, Ilaria, Chevalier, Amelie, Chiarabini, Thibault, Chinet, Thierry, Chocron, Richard, Choinier, Pascaline, Chommeloux, Juliette, Choquet, Christophe, Choupeaux, Laure, Chousterman, Benjamin, Ciocan, Dragosmarius, Clarke, Ada, Clavere, Gaëlle, Clavier, Florian, Clement, Karine, Clerc, Sebastien, Cohen, Yves, Cohen, Fleur, Cohen, Adrien, Coilly, Audrey, Colboc, Hester, Colin, Pauline, Collet, Magalie, Comarmond, Chloé, Combacon, Emeline, Combes, Alain, Comparon, Celine, Constantin, Jean-Michel, Cordel, Hugues, Cordier, Anne-Gael, Costantini, Adrien, Chalumeau, Nathalie Costedoat, Couffignal, Camille, Coupeau, Doriane, Creange, Alain, Lamarre, Yannie Cuvillier, Da Silveira, Charlène, Guibal El Kayani, Sandrine Dautheville, De Castro, Nathalie, De Rycke, Yann, Del Pozo, Lucie, Delannoy, Quentin, Delay, Mathieu, Deleris, Robin, Delforge, Juliette, Delphine, Laëtitia, Demare, Noemie, Demeret, Sophie, Demoule, Alexandre, Deniau, Aurore, Depret, François, Derolez, Sophie, Derradji, Ouda, Derridj, Nawal, Descamps, Vincent, Deschamps, Lydia, Desconclois, Celine, Desnos, Cyrielle, Desongins, Karine, Dhote, Robin, Diallo, Benjamin, Didier, Morgane, Diemer, Myriam, Diez, Stephane, Djadi-Prat, Juliette, Djamouri Monnory, Fatima-Zohra, Djebara, Siham, Djebra, Naoual, Djietcheu, Minette, Djillali, Hadjer, Djouadi, Nouara, Donneger, Severine, Santos, Catarina Dos, Dournon, Nathalie, Dres, Martin, Droctove, Laura, Drogrey, Marie, Dropy, Margot, Drouet, Elodie, Dubosq, Valérie, Dubreucq, Evelyne, Dubus, Estelle, Duchemann, Boris, Duchenoy, Thibault, Dudoignon, Emmanuel, Dufau, Romain, Dumas, Florence, Duran, Clara, Duron, Emmanuelle, Durrbach, Antoine, Duvivier, Claudine, Ebstein, Nathan, El Khalifa, Jihane, Elabbadi, Alexandre, Elie, Caroline, Ernotte, Gabriel, Esling, Anne, Etienne, Martin, Eyer, Xavier, Fartoukh, Muriel Sarah, Fayali, Takoua, Fermaut, Marion, Fiorentino, Arianna, Fliss, Souha, Fournier, Marie-Céline, Fournier, Benjamin, Francois, Hélène, Freynet, Olivia, Frigout, Yvann, Fromont, Isaure, Fuentes, Axelle, Furet, Thomas, Galand, Joris, Garnier, Marc, Gaubert, Agnes, Gaudry, Stéphane, Gaugain, Samuel, Gauthier, Damien, Gautier, Maxime, Georgin-Lavialle, Sophie, Geromin, Daniela, Ghalayini, Mohamed, Ghaleh, Bijan, Ghezal, Myriam, Gibelin, Aude, Gimeno, Linda, Girard, Benoit, Leprieur, Bénédicte Giroux, Gomes, Doryan, Gomes-Pires, Elisabete, Gouge, Anne, Gouja, Amel, Goulet, Helene, Goupil, Sylvain, De Bouille, Jeanne Goupil, Gras, Julien, Greffe, Segolene, Grimaldi, Lamiae, Guedeney, Paul, Guidet, Bertrand, Guillo, Matthias, Gulczynski, Mariechristelle, Hadjam, Tassadit, Haguenauer, Didier, Hammal, Soumeya, Hammoudi, Nadjib, Hanon, Olivier, Harrois, Anarole, Hausfater, Pierre, Hautem, Coraline, Hekimian, Guillaume, Heming, Nicholas, Hermine, Olivier, Ho, Sylvie, Houllier, Marie, Huot, Benjamin, Huscenot, Tessa, Saied, Wafa Ibn, Ikherbane, Ghilas, Imarazene, Meriem, Ingiliz, Patrick, Iratni, Lina, Jaureguiberry, Stephane, Jean-Marc, Jean-Francois, Jeyarajasingham, Deleena, Jouany, Pauline, Jouis, Veronique, Jourdaine, Clement, Kafif, Ouifiya, Kallala, Rim, Katsahian, Sandrine, Kelesyan, Lilit, Keo, Vixra, Ketz, Flora, Khamis, Warda, Khelili, Enfel, Khellaf, Mehdi, Kotokpo Youkou, Christy Gaëlla, Kounis, Ilias, Kpalma, Gaelle, Krause, Jessica, Labbe, Vincent, Lacombe, Karine, Lacorte, Jean-Marc, Lafont, Anne Gaelle, Lafont, Emmanuel, Lagha, Lynda, Lamhaut, Lionel, Lancelot, Aymeric, Landman, Cecilia, Lanternier, Fanny, Larcheveque, Cecile, Combe, Caroline Lascoux, Lassel, Ludovic, Laverdant, Benjamin, Lavergne, Christophe, Lavillegrand, Jean-Rémi, Lazureanu, Pompilia, Le Guennec, Loïc, Leberre, Lamia, Leblanc, Claire, Leboyer, Marion, Lecomte, Francois, Lecorre, Marine, Leenhardt, Romain, Lefebvre, Marylou, Lefebvre, Bénédicte, Legendre, Paul, Leger, Anne, Legros, Laurence, Legrosse, Justyna, Lehuunghia, Sébastien, Lemarec, Julien, Leporrier-Ext, Jeremie, Lesein, Manon, Lesur, Hubert, Levy, Vincent, Levy, Albert, Lopes, Edwige, Lopes, Amanda, Lopez, Vanessa, Lopinto, Julien, Lortholary, Olivier, Louadah, Badr, Loze, Bénédicte, Lucas, Marie-Laure, Lucasamichi, Axelle, Luong, Liem Binh, Magazimama-Ext, Arouna, Maingret, David, Mameri, Lakhdar, Manivet, Philippe, Mansouri, Cylia, Marcault, Estelle, Marey, Jonathan, Marin, Nathalie, Marois, Clémence, Martin, Olivier, Martineau, Lou, Martinez-Lopez, Cannelle, Martyniuck, Pierre, De Farcy, Pauline Mary, Marzouk, Nessrine, Masmoudi, Rafik, Mebazaa, Alexandre, Mechai, Frédéric, Mecozzi, Fabio, Mediouni, Chamseddine, Megarbane, Bruno, Meghadecha, Mohamed, Mejean, Élodie, Mekinian, Arsene, Abdelhadi, Nour Mekki, Mekni, Rania, Meliti, Thinhinan Sabrina, Lima, Breno Melo, Meng, Paris, Merbah, Soraya, Messani, Fadhila, Messaoudi, Yasmine, Mewasing, Baboo-Irwinsingh, Meziane, Lydia, Michelot-Burger, Carole, Mignot, Françoise, Minka, Fadi Hillary, Miyara, Makoto, Moine, Pierre, Molina, Jean-Michel, Montegnies-Boulet, Anaïs, Monti, Alexandra, Montlahuc, Claire, Montout, Anne-Lise, Moores, Alexandre, Morbieu, Caroline, Mortelette, Helene, Mouly, Stéphane, Muzaffar, Rosita, Nacerddine, Cherifa Iness, Nadal, Marine, Nadif, Hajer, Nassarmadji, Kladoum, Natella, Pierre, Ndingamondze, Sandrine, Neraal, Stefan, Nguyen, Caroline, N'Guyen, Bao, Larmurier, Isabelle Nion, Nlomenyengue, Luc, Noel, Nicolas, Nunes, Hilario, Omar, Edris, Ouazene, Zineb, Ouedraogo, Elise, Ouelaa, Wassila, Oukhedouma, Anissa, Amara, Yasmina Ould, Oya, Herve, Oziel, Johanna, Padilla, Thomas, Paillaud, Elena, Paiva, Solenne, Parfait, Beatrice, Parize, Perrine, Parizot, Christophe, Parrot, Antoine, Pavot, Arthur, Peaudecerf, Laetitia, Pene, Frédéric, Pepin, Marion, Pernet, Julie, Pernin, Claire, Petit, Mylène, Peyrony, Olivier, Pietri, Marie-Pierre, Pietri, Olivia, De Chambrun, Marc Pineton, Pinson, Michelle, Pintado, Claire, Piquard, Valentine, Pires, Christine, Planquette, Benjamin, Poirier, Sandrine, Pomel, Anne-Laure, Pons, Stéphanie, Ponscarme, Diane, Pourcelot, Annegaelle, Pourcher, Valérie, Pouvaret, Anne, Prever, Florian, Previlon, Miresta, Prevost, Margot, Provoost, Marie-Julie, Quemeneur, Cyril, Rafat, Cédric, Rami, Agathe, Ranque, Brigitte, Raphael, Maurice, Raphalen, Jean Herle, Rastoin, Anna, Raux, Mathieu, Rebai, Amani, Reby, Michael, Regent, Alexis, Regrag, Asma, Resche-Rigon, Matthieu, Ressaire, Quentin, Richard, Christian, Richard, Mariecaroline, Robert, Maxence, Rohaut, Benjamin, Rolland-Debord, Camille, Ropers, Jacques, Roque-Afonso, Anne-Marie, Rosso, Charlotte, Rousseaux, Mélanie, Rousseaux, Nabila, Roux, Swasti, Roux, Lorène, Rouzaud, Claire, Rozes, Antoine, Rubenstein, Emma, Sabate, Jean-Marc, Sabet, Sheila, Sacleux, Sophie-Caroline, Kermanach, Nathalie Saidenberg, Saliba, Faouzi, Salmon, Dominique, Savale, Laurent, Savary, Guillaume, Sberro, Rebecca, Scemla, Anne, Schlemmer, Frederic, Schwartz, Mathieu, Sedfi, Saïd, Sefir-Kribel, Samia, Seksik, Philippe, Sellier, Pierre, Selves, Agathe, Sembach, Nicole, Semerano, Luca, Senat, Marie-Victoire, Sene, Damien, Serris, Alexandra, Sese, Lucile, Sghiouar, Naima, Sigaux, Johanna, Siguier, Martin, Silvain, Johanne, Simon, Noémie, Simon, Tabassome, Skandri, Lina Innes, Slimani, Miassa, Snauwaert, Aurélie, Sokol, Harry, Soliman, Heithem, Soltani, Nisrine, Soyer, Benjamin, Steg, Gabriel, Suarez, Lydia, Szwebel, Tali-Anne, Taffame, Kossi, Tandjaoui-Lambiotte, Yacine, Tantet, Claire, Tateo, Mariagrazia, Theodose, Igor, Thiebaud, Pierre clement, Thomas, Caroline, Tiercelet, Kelly, Tisserand, Julie, Tomczak, Carole, Torelino, Krystel, Touam-Ext, Fatima, Toumi, Lilia, Toury, Gustave, Toy-Miou, Mireille, Dinh Thanh Lien, Olivia Tran, Trandinh, Alexy, Treluyer, Jean-Marc, Trinque, Baptiste, Truchot, Jennifer, Tubach, Florence, Tubiana, Sarah, Tunesi, Simone, Turpin, Matthieu, Turpin, Agathe, Urbina, Tomas, Narvaez, Rafael Usubillaga, Uzunhan, Yurdagul, Vaittinadaayar, Prabakar, Valent, Arnaud, Valentian, Maelle, Valin, Nadia, Vallet, Hélène, Vaz, Marina, Vazquezibarra, Miguel-Alejandro, Vedie, Benoit, Velly, Laetitia, Verstuyft, Celine, Viallette, Cedric, Vicaut, Eric, Vignes, Dorothee, Vimpere, Damien, Virlouvet, Myriam, Voiriot, Guillaume, Voisot, Lena, Weiss, Emmanuel, Weiss, Nicolas, Winchenne, Anaïs, Yordanov, Youri, Zafrani, Lara, Zaidan, Mohamad, Zaidi, Wissem, Zak, Cathia, Zarhrate-Ghoul, Aida, Zatout, Ouassila, Zeino, Suzanne, Zeitouni, Michel, Zemirli, Naïma, Zerah, Lorene, Zia, Ounsa, Ziol, Marianne, Zolario, Oceane, Zuber, Julien, Andrejak, Claire, Angoulvant, François, Bachelet, Delphine, Bartoli, Marie, Basmaci, Romain, Behillil, Sylvie, Beluze, Marine, Benkerrou, Dehbia, Bhavsar, Krishna, Bouadma, Lila, Bouchez, Sabelline, Bouscambert, Maude, Cervantes-Gonzalez, Minerva, Chair, Anissa, Chirouze, Catherine, Coelho, Alexandra, Couffin-Cadiergues, Sandrine, d’Ortenzio, Eric, Debray, Marie-Pierre, Deconinck, Laurene, Deplanque, Dominique, Descamps, Diane, Desvallée, Mathilde, Diallo, Alpha, Diouf, Alphonsine, Dorival, Céline, Dubos, François, Elharrar, Brigitte, Enouf, Vincent, Esperou, Hélène, Esposito-Farese, Marina, Etienne, Manuel, Devouge, Eglantine Ferrand, Gault, Nathalie, Gaymard, Alexandre, Ghosn, Jade, Gigante, Tristan, Gilg, Morgane, Guedj, Jérémie, Hoctin, Alexandre, Hoffmann, Isabelle, Houas, Ikram, Hulot, Jean-Sébastien, Jaafoura, Salma, Kaguelidou, Florentia, Kali, Sabrina, Khalil, Antoine, Khan, Coralie, Laouénan, Cédric, Laribi, Samira, Le, Minh, Le Hingrat, Quentin, Le Mestre, Soizic, Le Nagard, Hervé, Lescure, François-Xavier, Letrou, Sophie, Levy, Yves, Lina, Bruno, Lingas, Guillaume, Lucet, Jean-Christophe, Malvy, Denis, Mambert, Marina, Meziane, Amina, Mouquet, Hugo, Mullaert, Jimmy, Neant, Nadège, Nguyen, Duc, Noret, Marion, Nseir, Saad, Papadopoulos, Aurélie, Paul, Christelle, Peiffer-Smadja, Nathan, Perpoint, Thomas, Petrov-Sanchez, Ventzislava, Peytavin, Gilles, Pham, Huong, Picone, Olivier, Puéchal, Oriane, Rabaud, Christian, Rosa-Calatrava, Manuel, Rossignol, Bénédicte, Rossignol, Patrick, Roy, Carine, Schneider, Marion, Su, Richa, Tardivon, Coralie, Tellier, Marie-Capucine, Téoulé, François, Terrier, Olivier, Timsit, Jean-François, Tual, Christelle, Van Der Werf, Sylvie, Vanel, Noémie, Veislinger, Aurélie, Visseaux, Benoit, Wiedemann, Aurélie, Yazdanpanah, Yazdan, Alavoine, Loubna, Burdet, Charles, Charpentier, Charlotte, Dechanet, Aline, Ecobichon, Jean-Luc, Frezouls, Wahiba, Houhou, Nadhira, Lehacaut, Jonathan, Manchon, Pauline, Nouroudine, Mariama, Quintin, Caroline, Thy, Michael, van der Werf, Sylvie, Vignali, Valérie, Chahine, Abir, Waucquier, Nawal, Migaud, Maria-Claire, Djossou, Félix, Mergeay-Fabre, Mayka, Lucarelli, Aude, Demar, Magalie, Bruneau, Léa, Gérardin, Patrick, Maillot, Adrien, Payet, Christine, Laviolle, Bruno, Laine, Fabrice, Paris, Christophe, Desille-Dugast, Mireille, Fouchard, Julie, Pistone, Thierry, Perreau, Pauline, Gissot, Valérie, Goas, Carole L.E., Montagne, Samatha, Richard, Lucie, Bouiller, Kévin, Desmarets, Maxime, Meunier, Alexandre, Bourgeon, Marilou, Lefévre, Benjamin, Jeulin, Hélène, Legrand, Karine, Lomazzi, Sandra, Tardy, Bernard, Gagneux-Brunon, Amandine, Bertholon, Frédérique, Botelho-Nevers, Elisabeth, Kouakam, Christelle, Nicolas, Leturque, Roufai, Layidé, Amat, Karine, Espérou, Hélène, Hendou, Samia, Foti, Giuseppe, Citerio, Giuseppe, Contro, Ernesto, Pesci, Alberto, Valsecchi, Maria Grazia, Cazzaniga, Marina, Bellani, Giacomo, Abad, Jorge, Accordino, Giulia, Angelini, Micol, Aguilera-Albesa, Sergio, Aguiló-Cucurull, Aina, Özkan, Esra Akyüz, Darazam, Ilad Alavi, Roblero Albisures, Jonathan Antonio, Aldave, Juan C., Ramos, Miquel Alfonso, Khan, Taj Ali, Aliberti, Anna, Nadji, Seyed Alireza, Alkan, Gulsum, AlKhater, Suzan A., Allardet-Servent, Jerome, Allende, Luis M., Alonso-Arias, Rebeca, Alshahrani, Mohammed S., Alsina, Laia, Amoura, Zahir, Antolí, Arnau, Arrestier, Romain, Aubart, Mélodie, Auguet, Teresa, Avramenko, Iryna, Aytekin, Gökhan, Azot, Axelle, Bahram, Seiamak, Bajolle, Fanny, Baldanti, Fausto, Baldolli, Aurélie, Ballester, Maite, Barrou, Benoit, Barzaghi, Federica, Basso, Sabrina, Bayhan, Gulsum Iclal, Bezrodnik, Liliana, Bilbao, Agurtzane, Blanchard-Rohner, Geraldine, Blanco, Ignacio, Blandinières, Adeline, Blázquez-Gamero, Daniel, Bloomfield, Marketa, Bolivar-Prados, Mireia, Borie, Raphael, Botdhlo-Nevers, Elisabeth, Bousquet, Aurore, Boutolleau, David, Bouvattier, Claire, Boyarchuk, Oksana, Bravais, Juliette, Briones, M. Luisa, Brunner, Marie-Eve, Bruno, Raffaele, Bueno, Maria Rita P., Bukhari, Huda, Bustamante, Jacinta, Cáceres Agra, Juan José, Capra, Ruggero, Carapito, Raphael, Carrabba, Maria, Casasnovas, Carlos, Caseris, Marion, Cassaniti, Irene, Castelle, Martin, Castelli, Francesco, Castillo de Vera, Martín, Castro, Mateus V., Catherinot, Emilie, Celik, Jale Bengi, Ceschi, Alessandro, Chalumeau, Martin, Charbit, Bruno, Boulanger, Cécile, Clavé, Père, Clotet, Bonaventura, Codina, Anna, Comarmond, Cloé, Comoli, Patrizia, Corsico, Angelo G., Coşkuner, Taner, Cvetkovski, Aleksandar, Cyrus, Cyril, Dalmau, David, Danion, François, Darley, David Ross, Das, Vincent, Dauby, Nicolas, Dauger, Stéphane, De Munte, Paul, de Pontual, Loic, Dehban, Amin, Delplancq, Geoffroy, Desguerre, Isabelle, Di Sabatino, Antonio, Diehl, Jean-Luc, Dobbelaere, Stephanie, Domínguez-Garrido, Elena, Dubost, Clément, Ekwall, Olov, Bozdemir, Şefika Elmas, Elnagdy, Marwa H., Emiroglu, Melike, Endo, Akifumi, Erdeniz, Emine Hafize, Aytekin, Selma Erol, Etxart Lasa, Maria Pilar, Euvrard, Romain, Fabio, Giovanna, Faivre, Laurence, Falck, Antonin, Fartoukh, Muriel, Faure, Morgane, Arquero, Miguel Fernandez, Ferrer, Ricard, Ferreres, Jose, Francois, Bruno, Fumadó, Victoria, Fung, Kitty S.C., Fusco, Francesca, Gagro, Alenka, Solis, Blanca Garcia, Garçon, Pierre, Gaussem, Pascale, Gayretli, Zeynep, Gil-Herrera, Juana, Gilardin, Laurent, Gatineau, Audrey Giraud, Girona-Alarcón, Mònica, Cifuentes Godínez, Karen Alejandra, Goffard, Jean-Christophe, Gonzales, Nacho, Gonzalez-Granado, Luis I., González-Montelongo, Rafaela, Guerder, Antoine, Gülhan, Belgin, Gumucio, Victor Daniel, Hanitsch, Leif Gunnar, Gunst, Jan, Gut, Marta, Hadjadj, Jérôme, Hancerli, Selda, Hariyan, Tetyana, Hatipoglu, Nevin, Heppekcan, Deniz, Hernandez-Brito, Elisa, Ho, Po-ki, Holanda-Peña, María Soledad, Horcajada, Juan P., Hraiech, Sami, Humbert, Linda, Hung, Ivan F.N., Iglesias, Alejandro D., Íñigo-Campos, Antonio, Jamme, Matthieu, Arranz, María Jesús, Jimeno, Marie-Thérèse, Jordan, Iolanda, Kanık-Yüksek, Saliha, Kara, Yalcin, Karahan, Aydın, Karbuz, Adem, Yasar, Kadriye Kart, Kasapcopur, Ozgur, Kashimada, Kenichi, Keles, Sevgi, Demirkol, Yasemin Kendir, Kido, Yasutoshi, Kizil, Can, Kılıç, Ahmet Osman, Klocperk, Adam, Koutsoukou, Antonia, Król, Zbigniew J., Ksouri, Hatem, Kuentz, Paul, Kwan, Arthur M.C., Kwan, Yat Wah M., Kwok, Janette S.Y., Lagier, Jean-Christophe, Lam, David S.Y., Lampropoulou, Vicky, Le Bourgeois, Fleur, Leo, Yee-Sin, Lopez, Rafael Leon, Leung, Daniel, Levin, Michael, Levy, Michael, Lévy, Romain, Li, Zhi, Lilleri, Daniele, Adrian Bolanos Lima, Edson Jose, Linglart, Agnes, López-Collazo, Eduardo, Lorenzo-Salazar, José M., Louapre, Céline, Lubetzki, Catherine, Lung, Kwok-Cheung, Luyt, Charles-Edouard, Lye, David C., Magnone, Cinthia, Marchioni, Enrico, Marioli, Carola, Marjani, Majid, Marques, Laura, Pereira, Jesus Marquez, Martín-Nalda, Andrea, Pueyo, David Martínez, Martinez-Picado, Javier, Marzana, Iciar, Mata-Martínez, Carmen, Mathian, Alexis, Matos, Larissa R.B., Matthews, Gail V., Mayaux, Julien, McLaughlin-Garcia, Raquel, Meersseman, Philippe, Mège, Jean-Louis, Mekontso-Dessap, Armand, Melki, Isabelle, Meloni, Federica, Meritet, Jean-François, Merlani, Paolo, Akcan, Özge Metin, Mezidi, Mehdi, Migeotte, Isabelle, Millereux, Maude, Million, Matthieu, Mirault, Tristan, Mircher, Clotilde, Mirsaeidi, Mehdi, Mizoguchi, Yoko, Modi, Bhavi P., Mojoli, Francesco, Moncomble, Elsa, Melián, Abián Montesdeoca, Martinez, Antonio Morales, Morandeira, Francisco, Morange, Pierre-Emmanuel, Mordacq, Clémence, Morelle, Guillaume, Mouly, Stéphane J., Muñoz-Barrera, Adrián, Nafati, Cyril, Nagashima, Shintaro, Nakagama, Yu, Neven, Bénédicte, Neves, João Farela, Ng, Yuk-Yung, Hubert Nielly, Medina, Yeray Novoa, Cuadros, Esmeralda Nuñez, Karabela, Semsi Nur, Ocejo-Vinyals, J. Gonzalo, Oualha, Mehdi, Ouedrani, Amani, Özçelik, Tayfun, Ozkaya-Parlakay, Aslinur, Pagani, Michele, Papadaki, Maria, Parola, Philippe, Pascreau, Tiffany, Paul, Stéphane, Paz-Artal, Estela, Pedraza, Sigifredo, González Pellecer, Nancy Carolina, Pellegrini, Silvia, Pérez de Diego, Rebeca, Pérez-Fernández, Xosé Luis, Philippe, Aurélien, Philippot, Quentin, Picod, Adrien, Pineton de Chambrun, Marc, Piralla, Antonio, Planas-Serra, Laura, Ploin, Dominique, Poissy, Julien, Poncelet, Géraldine, Poulakou, Garyphallia, Pouletty, Marie S., Pourshahnazari, Persia, Qiu-Chen, Jia Li, Quentric, Paul, Rambaud, Thomas, Raoult, Didier, Raoult, Violette, Rebillat, Anne-Sophie, Redin, Claire, Resmini, Léa, Ricart, Pilar, Richard, Jean-Christophe, Rigo-Bonnin, Raúl, Rivet, Nadia, Rivière, Jacques G., Rocamora-Blanch, Gemma, Rodero, Mathieu P., Rodrigo, Carlos, Rodriguez, Luis Antonio, Rodriguez-Gallego, Carlos, Rodriguez-Palmero, Agustí, Romero, Carolina Soledad, Rothenbuhler, Anya, Roux, Damien, Rovina, Nikoletta, Rozenberg, Flore, Ruch, Yvon, Ruiz, Montse, Ruiz del Prado, Maria Yolanda, Ruiz-Rodriguez, Juan Carlos, Sabater-Riera, Joan, Saks, Kai, Salagianni, Maria, Sanchez, Oliver, Sánchez-Montalvá, Adrián, Sánchez-Ramón, Silvia, Schidlowski, Laire, Schluter, Agatha, Schmidt, Julien, Schmidt, Matthieu, Schuetz, Catharina, Schweitzer, Cyril E., Scolari, Francesco, Seijo, Luis, Seminario, Analia Gisela, Seng, Piseth, Senoglu, Sevtap, Seppänen, Mikko, Llovich, Alex Serra, Siguret, Virginie, Siouti, Eleni, Smadja, David M., Smith, Nikaia, Sobh, Ali, Solanich, Xavier, Solé-Violán, Jordi, Soler, Catherine, Sözeri, Betül, Stella, Giulia Maria, Stepanovskiy, Yuriy, Stoclin, Annabelle, Taccone, Fabio, Taupin, Jean-Luc, Tavernier, Simon J., Tello, Loreto Vidaur, Terrier, Benjamin, Thiery, Guillaume, Thorn, Karolina, Thumerelle, Caroline, Tipu, Imran, Tolstrup, Martin, Tomasoni, Gabriele, Toubiana, Julie, Alvarez, Josep Trenado, Triantafyllia, Vasiliki, Troya, Jesús, Tsang, Owen T.Y., Tserel, Liina, Tso, Eugene Y.K., Tucci, Alessandra, Tüter Öz, Şadiye Kübra, Ursini, Matilde Valeria, Utsumi, Takanori, Vabres, Pierre, Valencia-Ramos, Juan, Van Den Rym, Ana Maria, Vandernoot, Isabelle, Velez-Santamaria, Valentina, Zuniga Veliz, Silvia Patricia, Vidigal, Mateus C., Viel, Sébastien, Villain, Cédric, Vilaire-Meunier, Marie E., Villar-García, Judit, Vincent, Audrey, Van der Linden, Dimitri, Volokha, Alla, Vuotto, Fanny, Wauters, Els, Wu, Alan K.L., Wu, Tak-Chiu, Yahşi, Aysun, Yesilbas, Osman, Yildiz, Mehmet, Young, Barnaby E., Yükselmiş, Ufuk, Zecca, Marco, Zuccaro, Valentina, Van Praet, Jens, Lambrecht, Bart N., Van Braeckel, Eva, Bosteels, Cédric, Hoste, Levi, Hoste, Eric, Bauters, Fré, De Clercq, Jozefien, Heijmans, Catherine, Slabbynck, Hans, Naesens, Leslie, Florkin, Benoit, Young, Mary-Anne, Willis, Amanda, Lapuente-Suanzes, Paloma, de Andrés-Martín, Ana, Berkell, Matilda, Carelli, Valerio, Fiorentino, Alessia, Malhotra, Surbhi, Mattiaccio, Alessandro, Pippucci, Tommaso, Seri, Marco, Tacconelli, Evelina, van Agtmael, Michiel, Algera, Anne Geke, Appelman, Brent, van Baarle, Frank, Bax, Diane, Beudel, Martijn, Bogaard, Harm Jan, Bomers, Marije, Bonta, Peter, Bos, Lieuwe, Botta, Michela, de Brabander, Justin, de Bree, Godelieve, de Bruin, Sanne, Buis, David T.P., Bugiani, Marianna, Bulle, Esther, Chouchane, Osoul, Cloherty, Alex, Dijkstra, Mirjam, Dongelmans, Dave A., Dujardin, Romein W.G., Elbers, Paul, Fleuren, Lucas, Geerlings, Suzanne, Geijtenbeek, Theo, Girbes, Armand, Goorhuis, Bram, Grobusch, Martin P., Hafkamp, Florianne, Hagens, Laura, Hamann, Jorg, Harris, Vanessa, Hemke, Robert, Hermans, Sabine M., Heunks, Leo, Hollmann, Markus, Horn, Janneke, Hovius, Joppe W., de Jong, Menno D., Koning, Rutger, Lim, Endry H.T., van Mourik, Niels, Nellen, Jeaninne, Nossent, Esther J., Paulus, Frederique, Peters, Edgar, Pina-Fuentes, Dan A.I., van der Poll, Tom, Preckel, Bennedikt, Prins, Jan M., Raasveld, Jorinde, Reijnders, Tom, de Rotte, Maurits C.F. J., Schinkel, Michiel, Schultz, Marcus J., Schrauwen, Femke A.P., Schuurmans, Alex, Schuurmans, Jaap, Sigaloff, Kim, Slim, Marleen A., Smeele, Patrick, Smit, Marry, Stijnis, Cornelis S., Stilma, Willemke, Teunissen, Charlotte, Thoral, Patrick, Tsonas, Anissa M., Tuinman, Pieter R., van der Valk, Marc, Veelo, Denise P., Volleman, Carolien, de Vries, Heder, Vught, Lonneke A., van Vugt, Michèle, Wouters, Dorien, Zwinderman, A.H., Brouwer, Matthijs C., Wiersinga, W. Joost, Vlaar, Alexander P.J., Tompkins, Miranda F., Alba, Camille, Hupalo, Daniel N., Rosenberger, John, Sukumar, Gauthaman, Wilkerson, Matthew D., Zhang, Xijun, Lack, Justin, Oler, Andrew J., Dobbs, Kerry, Delmonte, Ottavia M., Danielson, Jeffrey J., Biondi, Andrea, Bettini, Laura Rachele, D’Angiò, Mariella, Beretta, Ilaria, Imberti, Luisa, Sottini, Alessandra, Quaresima, Virginia, Quiros-Roldan, Eugenia, Rossi, Camillo, Castagnoli, Riccardo, Montagna, Daniela, Licari, Amelia, Marseglia, Gian Luigi, Marchal, Astrid, Cirulli, Elizabeth T., Neveux, Iva, Bellos, Evangelos, Thwaites, Ryan S., Schiabor Barrett, Kelly M., Zhang, Yu, Nemes-Bokun, Ivana, Kalinova, Mariya, Catchpole, Andrew, Lack, Justin B., Chiu, Christopher, and Grzymski, Joseph J.
Published: 2024
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5. Surgical management of Chiari malformation type 1 associated to MCAP syndrome and study of cerebellar and adjacent tissues for PIK3CA mosaicism

Author: Di Rocco, Federico, Licci, Maria Lucia, Garde, Aurore, Mottolese, Carmine, Thauvin-Robinet, Christel, Chevarin, Martin, Guibaud, Laurent, Vabres, Pierre, Kuentz, Paul, and Faivre, Laurence
Published: 2023
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6. Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway

Author: Delanne, Julian, Lecat, Magaly, Blackburn, Patrick R., Klee, Eric W., Stumpel, Constance T.R.M., Stegmann, Sander, Stevens, Servi J.C., Nava, Caroline, Heron, Delphine, Keren, Boris, Mahida, Sonal, Naidu, Sakkubai, Babovic-Vuksanovic, Dusica, Herkert, Johanna C., Torring, Pernille M., Kibæk, Maria, De Bie, Isabelle, Pfundt, Rolph, Hendriks, Yvonne M.C., Ousager, Lilian Bomme, Bend, Renee, Warren, Hannah, Skinner, Steven A., Lyons, Michael J., Pöe, Charlotte, Chevarin, Martin, Jouan, Thibaud, Garde, Aurore, Thomas, Quentin, Kuentz, Paul, Tisserant, Emilie, Duffourd, Yannis, Philippe, Christophe, Faivre, Laurence, and Thauvin-Robinet, Christel
Published: 2023
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7. Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?

Author: Bourgon, Nicolas, Garde, Aurore, Bruel, Ange-Line, Lefebvre, Mathilde, Mau-Them, Frederic Tran, Moutton, Sebastien, Sorlin, Arthur, Nambot, Sophie, Delanne, Julian, Chevarin, Martin, Pöe, Charlotte, Thevenon, Julien, Lehalle, Daphné, Jean-Marçais, Nolween, Kuentz, Paul, Lambert, Laetitia, El Chehadeh, Salima, Schaefer, Elise, Willems, Marjolaine, Laffargue, Fanny, Francannet, Christine, Fradin, Mélanie, Gaillard, Dominique, Blesson, Sophie, Goldenberg, Alice, Capri, Yline, Sagot, Paul, Rousseau, Thierry, Simon, Emmanuel, Binquet, Christine, Ascencio, Marie-Laure, Duffourd, Yannis, Philippe, Christophe, Faivre, Laurence, Vitobello, Antonio, and Thauvin-Robinet, Christel
Published: 2022
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8. A postzygotic GNA13 variant upregulates the RHOA/ROCK pathway and alters melanocyte function in a mosaic skin hypopigmentation syndrome.

Author: El Masri, Rana, Iannuzzo, Alberto, Kuentz, Paul, Tacine, Rachida, Vincent, Marie, Barbarot, Sébastien, Morice-Picard, Fanny, Boralevi, Franck, Oillarburu, Naia, Mazereeuw-Hautier, Juliette, Duffourd, Yannis, Faivre, Laurence, Sorlin, Arthur, Vabres, Pierre, and Delon, Jérôme
Abstract: The genetic bases of mosaic pigmentation disorders have increasingly been identified, but these conditions remain poorly characterised, and their pathophysiology is unclear. Here, we report in four unrelated patients that a recurrent postzygotic mutation in GNA13 is responsible for a recognizable syndrome with hypomelanosis of Ito associated with developmental anomalies. GNA13 encodes Gα13, a subunit of αβγ heterotrimeric G proteins coupled to specific transmembrane receptors known as G-protein coupled receptors. In-depth functional investigations revealed that this R200K mutation provides a gain of function to Gα13. Mechanistically, we show that this variant hyperactivates the RHOA/ROCK signalling pathway that consequently increases actin polymerisation and myosin light chains phosphorylation, and promotes melanocytes rounding. Our results also indicate that R200K Gα13 hyperactivates the YAP signalling pathway. All these changes appear to affect cell migration and adhesion but not the proliferation. Our results suggest that hypopigmentation can result from a defect in melanosome transfer to keratinocytes due to cell shape alterations. These findings highlight the interaction between heterotrimeric G proteins and the RHOA pathway, and their role in melanocyte function. Here, the authors have identified a mutation in the gene GNA13 in patients with hypomelanosis of Ito and developmental anomalies, which triggers excessive RHOA/ROCK signaling and actin polymerization, leading to melanocyte rounding and failure in melanosome transfer to keratinocytes. [ABSTRACT FROM AUTHOR]
Published: 2025
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9. The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders

Author: Delanne, Julian, Bruel, Ange-Line, Huet, Frédéric, Moutton, Sébastien, Nambot, Sophie, Grisval, Margot, Houcinat, Nada, Kuentz, Paul, Sorlin, Arthur, Callier, Patrick, Jean-Marcais, Nolwenn, Mosca-Boidron, Anne-Laure, Mau-Them, Frédéric Tran, Denommé-Pichon, Anne-Sophie, Vitobello, Antonio, Lehalle, Daphné, El Chehadeh, Salima, Francannet, Christine, Lebrun, Marine, Lambert, Laetitia, Jacquemont, Marie-Line, Gerard-Blanluet, Marion, Alessandri, Jean-Luc, Willems, Marjolaine, Thevenon, Julien, Chouchane, Mondher, Darmency, Véronique, Fatus-Fauconnier, Clémence, Gay, Sébastien, Bournez, Marie, Masurel, Alice, Leguy, Vanessa, Duffourd, Yannis, Philippe, Christophe, Feillet, François, Faivre, Laurence, and Thauvin-Robinet, Christel
Published: 2021
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10. Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

Author: Courraud, Jérémie, Chater-Diehl, Eric, Durand, Benjamin, Vincent, Marie, del Mar Muniz Moreno, Maria, Boujelbene, Imene, Drouot, Nathalie, Genschik, Loréline, Schaefer, Elise, Nizon, Mathilde, Gerard, Bénédicte, Abramowicz, Marc, Cogné, Benjamin, Bronicki, Lucas, Burglen, Lydie, Barth, Magalie, Charles, Perrine, Colin, Estelle, Coubes, Christine, David, Albert, Delobel, Bruno, Demurger, Florence, Passemard, Sandrine, Denommé, Anne-Sophie, Faivre, Laurence, Feger, Claire, Fradin, Mélanie, Francannet, Christine, Genevieve, David, Goldenberg, Alice, Guerrot, Anne-Marie, Isidor, Bertrand, Johannesen, Katrine M., Keren, Boris, Kibæk, Maria, Kuentz, Paul, Mathieu-Dramard, Michèle, Demeer, Bénédicte, Metreau, Julia, Steensbjerre Møller, Rikke, Moutton, Sébastien, Pasquier, Laurent, Pilekær Sørensen, Kristina, Perrin, Laurence, Renaud, Mathilde, Saugier, Pascale, Rio, Marlène, Svane, Joane, Thevenon, Julien, Tran Mau Them, Frédéric, Tronhjem, Cathrine Elisabeth, Vitobello, Antonio, Layet, Valérie, Auvin, Stéphane, Khachnaoui, Khaoula, Birling, Marie-Christine, Drunat, Séverine, Bayat, Allan, Dubourg, Christèle, El Chehadeh, Salima, Fagerberg, Christina, Mignot, Cyril, Guipponi, Michel, Bienvenu, Thierry, Herault, Yann, Thompson, Julie, Willems, Marjolaine, Mandel, Jean-Louis, Weksberg, Rosanna, and Piton, Amélie
Published: 2021
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11. Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

Author: Carmignac, Virginie, Mignot, Cyril, Blanchard, Emmanuelle, Kuentz, Paul, Aubriot-Lorton, Marie-Hélène, Parker, Victoria E.R., Sorlin, Arthur, Fraitag, Sylvie, Courcet, Jean-Benoît, Duffourd, Yannis, Rodriguez, Diana, Knox, Rachel G., Polubothu, Satyamaanasa, Boland, Anne, Olaso, Robert, Delepine, Marc, Darmency, Véronique, Riachi, Melissa, Quelin, Chloé, Rollier, Paul, Goujon, Louise, Grotto, Sarah, Capri, Yline, Jacquemont, Marie-Line, Odent, Sylvie, Amram, Daniel, Chevarin, Martin, Vincent-Delorme, Catherine, Catteau, Benoît, Guibaud, Laurent, Arzimanoglou, Alexis, Keddar, Malika, Sarret, Catherine, Callier, Patrick, Bessis, Didier, Geneviève, David, Deleuze, Jean-François, Thauvin, Christel, Semple, Robert K., Philippe, Christophe, Rivière, Jean-Baptiste, Kinsler, Veronica A., Faivre, Laurence, and Vabres, Pierre
Published: 2021
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12. Possible incomplete penetrance of Xq28 int22h‐1/int22h‐2 duplication.

Author: Billes, Alexis, Pujalte, Mathilde, Jedraszak, Guillaume, Amsallem, Daniel, Boudry‐Labis, Elise, Boute, Odile, Bouquillon, Sonia, Brischoux‐Boucher, Elise, Callier, Patrick, Coutton, Charles, Denizet, Anne‐Laude Avice, Dieterich, Klaus, Kuentz, Paul, Lespinasse, James, Mazel, Benoît, Morin, Gilles, Amram, Florence, Pennamen, Perrine, Rio, Marlène, and Piard, Juliette
Subjects: HOMOLOGOUS recombination, FACIAL abnormalities, INTELLECTUAL disabilities, DISEASE relapse, UNIVERSITY hospitals
Abstract: Xq28 int22h‐1/int22h‐2 duplication is the result of non‐allelic homologous recombination between int22h‐1/int22h‐2 repeats separated by 0.5 Mb. It is responsible for a syndromic form of intellectual disability (ID), with recurrent infections and atopic diseases. Minor defects, nonspecific facial dysmorphic features, and overweight have also been described. Half of female carriers have been reported with ID, whereas all reported evaluated born males present mild to moderate ID, suggesting complete penetrance. We collected data on 15 families from eight university hospitals. Among them, 40 patients, 21 females (one fetus), and 19 males (two fetuses), were carriers of typical or atypical Xq28 int22h‐1/int22h‐2 duplication. Twenty‐one individuals were considered asymptomatic (16 females and 5 males), without significantly higher rate of recurrent infections, atopia, overweight, or facial dysmorphism. Approximately 67% live‐born males and 23% live‐born female carriers of the typical duplication did not have obvious signs of intellectual disability, suggesting previously undescribed incomplete penetrance or low expression in certain carriers. The possibility of a second‐hit or modifying factors to this possible susceptibility locus is yet to be studied but a possible observational bias should be considered in assessing such challenging X‐chromosome copy number gains. Additional segregation studies should help to quantify this newly described incomplete penetrance. [ABSTRACT FROM AUTHOR]
Published: 2024
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13. Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

Author: Lennox, Ashley L., Hoye, Mariah L., Jiang, Ruiji, Johnson-Kerner, Bethany L., Suit, Lindsey A., Venkataramanan, Srivats, Sheehan, Charles J., Alsina, Fernando C., Fregeau, Brieana, Aldinger, Kimberly A., Moey, Ching, Lobach, Iryna, Afenjar, Alexandra, Babovic-Vuksanovic, Dusica, Bézieau, Stéphane, Blackburn, Patrick R., Bunt, Jens, Burglen, Lydie, Campeau, Philippe M., Charles, Perrine, Chung, Brian H.Y., Cogné, Benjamin, Curry, Cynthia, D’Agostino, Maria Daniela, Di Donato, Nataliya, Faivre, Laurence, Héron, Delphine, Innes, A. Micheil, Isidor, Bertrand, Keren, Boris, Kimball, Amy, Klee, Eric W., Kuentz, Paul, Küry, Sébastien, Martin-Coignard, Dominique, Mirzaa, Ghayda, Mignot, Cyril, Miyake, Noriko, Matsumoto, Naomichi, Fujita, Atsushi, Nava, Caroline, Nizon, Mathilde, Rodriguez, Diana, Blok, Lot Snijders, Thauvin-Robinet, Christel, Thevenon, Julien, Vincent, Marie, Ziegler, Alban, Dobyns, William, Richards, Linda J., Barkovich, A. James, Floor, Stephen N., Silver, Debra L., and Sherr, Elliott H.
Published: 2020
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14. Clinical phenotype of the PIK3R1-related vascular overgrowth syndrome

Author: Kuentz, Paul, primary, Engel, Camille, additional, Laeng, Mathieu, additional, Chevarin, Martin, additional, Duffourd, Yannis, additional, Martel, Jéhanne, additional, Piard, Juliette, additional, Morice-Picard, Fanny, additional, Aubert, Helene, additional, Bessis, Didier, additional, Guerrot, Anne-Marie, additional, Maruani, Annabel, additional, Boccara, Olivia, additional, Mazereeuw-Hautier, Juliette, additional, Ott, Hagen, additional, Phan, Alice, additional, Puzenat, Eve, additional, Quelin, Chloe, additional, Thauvin-Robinet, Christel, additional, Faivre, Laurence, additional, and Vabres, Pierre, additional
Published: 2024
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15. Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20

Author: Juven, Aurélien, Nambot, Sophie, Piton, Amélie, Jean-Marçais, Nolwenn, Masurel, Alice, Callier, Patrick, Marle, Nathalie, Mosca-Boidron, Anne-Laure, Kuentz, Paul, Philippe, Christophe, Chevarin, Martin, Duffourd, Yannis, Gautier, Elodie, Munnich, Arnold, Rio, Marlène, Rondeau, Sophie, El Chehadeh, Salima, Schaefer, Élise, Gérard, Bénédicte, Bouquillon, Sonia, Delorme, Catherine Vincent, Francannet, Christine, Laffargue, Fanny, Gouas, Laetitia, Isidor, Bertrand, Vincent, Marie, Blesson, Sophie, Giuliano, Fabienne, Pichon, Olivier, Le Caignec, Cédric, Journel, Hubert, Perrin-Sabourin, Laurence, Fabre-Teste, Jennifer, Martin, Dominique, Vieville, Gaelle, Dieterich, Klaus, Lacombe, Didier, Denommé-Pichon, Anne-Sophie, Thauvin-Robinet, Christel, and Faivre, Laurence
Published: 2020
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16. Retards staturaux liés au gène SHOX : étude rétrospective multicentrique sur l’implication des CNVs et l’apport du séquençage

Author: Egloff, Matthieu, Patri, Sylvie, Compain, Florence, Bouazzaoui, Abdelhakim, Boucher Brischoux, Elise, Costa, Jean-Marc, Denizet-Avice, Anne-Laude, Engel, Camille, Fradin, Mélanie, Jaillard, Sylvie, Kuentz, Paul, Le Guillou-Horn, Xavier, Letard, Pascaline, Niclass, Tanguy, Piard, Juliette, Redon, Sylvia, Roullaud, Sylvie, Roze-Guillaumey, Virginie, Le Guyader, Gwenael, Dufernez, Fabienne, and Porteret, Camille
Published: 2024
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17. L’hypomélanose d’Ito, symptôme ou diagnostic ? Diversité étiologique et mécanismes

Author: Kuentz, Paul and Vabres, Pierre
Published: 2024
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18. Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

Author: Besnard, Thomas, Sloboda, Natacha, Goldenberg, Alice, Küry, Sébastien, Cogné, Benjamin, Breheret, Flora, Trochu, Eva, Conrad, Solène, Vincent, Marie, Deb, Wallid, Balguerie, Xavier, Barbarot, Sébastien, Baujat, Geneviève, Ben-Omran, Tawfeg, Bursztejn, Anne-Claire, Carmignac, Virginie, Datta, Alexandre N., Delignières, Aline, Faivre, Laurence, Gardie, Betty, Guéant, Jean-Louis, Kuentz, Paul, Lenglet, Marion, Nassogne, Marie-Cécile, Ramaekers, Vincent, Schnur, Rhonda E., Si, Yue, Torti, Erin, Thevenon, Julien, Vabres, Pierre, Van Maldergem, Lionel, Wand, Dorothea, Wiedemann, Arnaud, Cariou, Bertrand, Redon, Richard, Lamazière, Antonin, Bézieau, Stéphane, Feillet, Francois, and Isidor, Bertrand
Published: 2019
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19. 2.5 years’ experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases

Author: Bruel, Ange-Line, Vitobello, Antonio, Mau-Them, Frédéric Tran, Nambot, Sophie, Duffourd, Yannis, Quéré, Virginie, Kuentz, Paul, Garret, Philippine, Thevenon, Julien, Moutton, Sébastien, Lehalle, Daphné, Jean-Marçais, Nolwenn, Garde, Aurore, Delanne, Julian, Lefebvre, Mathilde, Lecoquierre, François, Trost, Detlef, Cho, Megan, Begtrup, Amber, Telegrafi, Aida, Vabres, Pierre, Mosca-Boidron, Anne-Laure, Callier, Patrick, Philippe, Christophe, Faivre, Laurence, and Thauvin-Robinet, Christel
Published: 2019
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20. Severe gynaecological involvement in Proteus Syndrome

Author: Severino-Freire, Maella, Maza, Aude, Kuentz, Paul, Duffourd, Yannis, Faivre, Laurence, Brazet, Edith, Chassaing, Nicolas, Mery-Lemarche, Eliane, Vabres, Pierre, and Mazereeuw-Hautier, Juliette
Published: 2019
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21. Allelic heterogeneity in a patient with postzygotic MTOR‐related hypomelanosis of Ito with neurodevelopmental abnormalities

Author: Engel, Camille, primary, Chevarin, Martin, additional, Piard, Juliette, additional, Abad, Marine, additional, Thomas, Quentin, additional, Carmignac, Virginie, additional, Duffourd, Yannis, additional, Lemesle‐Martin, Martine, additional, Tarris, Georges, additional, Thauvin‐Robinet, Christel, additional, Vabres, Pierre, additional, Faivre, Laurence, additional, and Kuentz, Paul, additional
Published: 2024
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22. O06 Clinical phenotype of the Klippel-Trenaunay syndrome with mosaic PIK3R1 mutations

Author: Vabres, Pierre, primary, Engel, Camille, additional, Bessis, Didier, additional, Morice-Picard4, Fanny, additional, Aubert, Hélène, additional, Isidor, Bertrand, additional, Phan, Alice, additional, Boccara, Olivia, additional, Mazereeuw-Hautier, Juliette, additional, Maruani-Raphaël, Annabel, additional, Puzenat, Eve, additional, and Kuentz, Paul, additional
Published: 2024
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23. Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3

Author: Villegas, Florian, Lehalle, Daphné, Mayer, Daniela, Rittirsch, Melanie, Stadler, Michael B., Zinner, Marietta, Olivieri, Daniel, Vabres, Pierre, Duplomb-Jego, Laurence, De Bont, Eveline S.J.M., Duffourd, Yannis, Duijkers, Floor, Avila, Magali, Geneviève, David, Houcinat, Nada, Jouan, Thibaud, Kuentz, Paul, Lichtenbelt, Klaske D., Thauvin-Robinet, Christel, St-Onge, Judith, Thevenon, Julien, van Gassen, Koen L.I., van Haelst, Mieke, van Koningsbruggen, Silvana, Hess, Daniel, Smallwood, Sebastien A., Rivière, Jean-Baptiste, Faivre, Laurence, and Betschinger, Joerg
Published: 2019
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24. Correspondence on “The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2” by Lai et al

Author: Horta, Edgar, Dahlen, Eric, Engel, Camille, Piard, Juliette, Thauvin-Robinet, Christel, Faivre, Laurence, Vabres, Pierre, and Kuentz, Paul
Published: 2024
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25. Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

Author: Nambot, Sophie, Thevenon, Julien, Kuentz, Paul, Duffourd, Yannis, Tisserant, Emilie, Bruel, Ange-Line, Mosca-Boidron, Anne-Laure, Masurel-Paulet, Alice, Lehalle, Daphné, Jean-Marçais, Nolwenn, Lefebvre, Mathilde, Vabres, Pierre, El Chehadeh-Djebbar, Salima, Philippe, Christophe, Tran Mau-Them, Frederic, St-Onge, Judith, Jouan, Thibaud, Chevarin, Martin, Poé, Charlotte, Carmignac, Virginie, Vitobello, Antonio, Callier, Patrick, Rivière, Jean-Baptiste, Faivre, Laurence, and Thauvin-Robinet, Christel
Published: 2018
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26. Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

Author: Vabres, Pierre, Sorlin, Arthur, Kholmanskikh, Stanislav S., Demeer, Bénédicte, St-Onge, Judith, Duffourd, Yannis, Kuentz, Paul, Courcet, Jean-Benoît, Carmignac, Virginie, Garret, Philippine, Bessis, Didier, Boute, Odile, Bron, Alain, Captier, Guillaume, Carmi, Esther, Devauchelle, Bernard, Geneviève, David, Gondry-Jouet, Catherine, Guibaud, Laurent, Lafon, Arnaud, Mathieu-Dramard, Michèle, Thevenon, Julien, Dobyns, William B., Bernard, Geneviève, Polubothu, Satyamaanasa, Faravelli, Francesca, Kinsler, Veronica A., Thauvin, Christel, Faivre, Laurence, Ross, M. Elizabeth, and Rivière, Jean-Baptiste
Published: 2019
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27. Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests

Author: Thauvin-Robinet, Christel, Thevenon, Julien, Nambot, Sophie, Delanne, Julian, Kuentz, Paul, Bruel, Ange-Line, Chassagne, Aline, Cretin, Elodie, Pelissier, Aurore, Peyron, Chritine, Gautier, Elodie, Lehalle, Daphné, Jean-Marçais, Nolwenn, Callier, Patrick, Mosca-Boidron, Anne-Laure, Vitobello, Antonio, Sorlin, Arthur, Tran Mau-Them, Frédéric, Philippe, Christophe, Vabres, Pierre, Demougeot, Laurent, Poé, Charlotte, Jouan, Thibaud, Chevarin, Martin, Lefebvre, Mathilde, Bardou, Marc, Tisserant, Emilie, Luu, Maxime, Binquet, Christine, Deleuze, Jean-François, Verstuyft, Céline, Duffourd, Yannis, and Faivre, Laurence
Published: 2019
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28. Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses

Author: Bourchany, Aurélie, Thauvin-Robinet, Christel, Lehalle, Daphné, Bruel, Ange-Line, Masurel-Paulet, Alice, Jean, Nolwenn, Nambot, Sophie, Willems, Marjorie, Lambert, Laetitia, El Chehadeh-Djebbar, Salima, Schaefer, Elise, Jaquette, Aurélia, St-Onge, Judith, Poe, Charlotte, Jouan, Thibaud, Chevarin, Martin, Callier, Patrick, Mosca-Boidron, Anne-Laure, Laurent, Nicole, Lefebvre, Mathilde, Huet, Frédéric, Houcinat, Nada, Moutton, Sébastien, Philippe, Christophe, Tran-Mau-Them, Frédéric, Vitobello, Antonio, Kuentz, Paul, Duffourd, Yannis, Rivière, Jean-Baptiste, Thevenon, Julien, and Faivre, Laurence
Published: 2017
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29. Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

Author: Kuentz, Paul, St-Onge, Judith, Duffourd, Yannis, Courcet, Jean-Benoît, Carmignac, Virginie, Jouan, Thibaud, Sorlin, Arthur, Abasq-Thomas, Claire, Albuisson, Juliette, Amiel, Jeanne, Amram, Daniel, Arpin, Stéphanie, Attie-Bitach, Tania, Bahi-Buisson, Nadia, Barbarot, Sébastien, Baujat, Geneviève, Bessis, Didier, Boccara, Olivia, Bonnière, Maryse, Boute, Odile, Bursztejn, Anne-Claire, Chiaverini, Christine, Cormier-Daire, Valérie, Coubes, Christine, Delobel, Bruno, Edery, Patrick, Chehadeh, Salima El, Francannet, Christine, Geneviève, David, Goldenberg, Alice, Haye, Damien, Isidor, Bertrand, Jacquemont, Marie-Line, Khau Van Kien, Philippe, Lacombe, Didier, Martin, Ludovic, Martinovic, Jelena, Maruani, Annabel, Mathieu-Dramard, Michèle, Mazereeuw-Hautier, Juliette, Michot, Caroline, Mignot, Cyril, Miquel, Juliette, Morice-Picard, Fanny, Petit, Florence, Phan, Alice, Rossi, Massimiliano, Touraine, Renaud, Verloes, Alain, Vincent, Marie, Vincent-Delorme, Catherine, Whalen, Sandra, Willems, Marjolaine, Marle, Nathalie, Lehalle, Daphné, Thevenon, Julien, Thauvin-Robinet, Christel, Hadj-Rabia, Smaïl, Faivre, Laurence, Vabres, Pierre, and Rivière, Jean-Baptiste
Published: 2017
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30. NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients

Author: Bertacchi, Michele, Romano, Anna Lisa, Loubat, Agnès, Tran Mau‐Them, Frederic, Willems, Marjolaine, Faivre, Laurence, Khau van Kien, Philippe, Perrin, Laurence, Devillard, Françoise, Sorlin, Arthur, Kuentz, Paul, Philippe, Christophe, Garde, Aurore, Neri, Francesco, Di Giaimo, Rossella, Oliviero, Salvatore, Cappello, Silvia, D'Incerti, Ludovico, Frassoni, Carolina, and Studer, Michèle
Published: 2020
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31. Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome

Author: Alessandri, Jean-Luc, Gordon, Christopher T., Jacquemont, Marie-Line, Gruchy, Nicolas, Ajeawung, Norbert F, Benoist, Guillaume, Oufadem, Myriam, Chebil, Asma, Duffourd, Yannis, Dumont, Coralie, Gérard, Marion, Kuentz, Paul, Jouan, Thibaud, Filippini, Francesca, Nguyen, Thi Tuyet Mai, Alibeu, Olivier, Bole-Feysot, Christine, Nitschké, Patrick, Omarjee, Asma, Ramful, Duksha, Randrianaivo, Hanitra, Doray, Bérénice, Faivre, Laurence, Amiel, Jeanne, Campeau, Philippe M., and Thevenon, Julien
Published: 2018
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32. Low risk of embryonic and other cancers in PIK3CA‐related overgrowth spectrum: Impact on screening recommendations

Author: Faivre, Laurence, primary, Crépin, Jean‐Charles, additional, Réda, Manon, additional, Nambot, Sophie, additional, Carmignac, Virginie, additional, Abadie, Caroline, additional, Mirault, Tristan, additional, Faure‐Conter, Cécile, additional, Mazereeuw‐Hautier, Juliette, additional, Maza, Aude, additional, Puzenat, Eve, additional, Collonge‐Rame, Marie‐Agnès, additional, Bursztejn, Anne‐Claire, additional, Philippe, Christophe, additional, Thauvin‐Robinet, Christel, additional, Chevarin, Martin, additional, Abasq‐Thomas, Claire, additional, Amiel, Jeanne, additional, Arpin, Stéphanie, additional, Barbarot, Sébastien, additional, Baujat, Geneviève, additional, Bessis, Didier, additional, Bourrat, Emmanuelle, additional, Boute, Odile, additional, Chassaing, Nicolas, additional, Coubes, Christine, additional, Demeer, Bénédicte, additional, Edery, Patrick, additional, El Chehadeh, Salima, additional, Goldenberg, Alice, additional, Hadj‐Rabia, Smail, additional, Haye, Damien, additional, Isidor, Bertrand, additional, Jacquemont, Marie‐Line, additional, Van Kien, Philippe Khau, additional, Lacombe, Didier, additional, Lehalle, Daphné, additional, Lambert, Laetitia, additional, Martin, Ludovic, additional, Maruani, Annabel, additional, Morice‐Picard, Fanny, additional, Petit, Florence, additional, Phan, Alice, additional, Pinson, Lucile, additional, Rossi, Massimiliano, additional, Touraine, Renaud, additional, Vanlerberghe, Clémence, additional, Vincent, Marie, additional, Vincent‐Delorme, Catherine, additional, Whalen, Sandra, additional, Willems, Marjolaine, additional, Marle, Nathalie, additional, Verkarre, Virginie, additional, Devalland, Christine, additional, Devouassoux‐Shisheboran, Mojgan, additional, Abad, Marine, additional, Rioux‐Leclercq, Nathalie, additional, Bonniaud, Bertille, additional, Duffourd, Yannis, additional, Martel, Jehanne, additional, Binquet, Christine, additional, Kuentz, Paul, additional, and Vabres, Pierre, additional
Published: 2023
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33. Spectre clinique et mutationnel des malformations vasculaires cutanées hypertrophiques associées aux variants de PIK3R1

Author: Kuentz, Paul, Engel, Camille, Laeng, Mathieu, Chevarin, Martin, Aubert, Hélène, Mercier, Sandra, Isidor, Bertrand, Phan, Alice, Boccara, Olivia, Bessis, Didier, Morice-Picard, Fanny, Ott, Hagen, Guérot, Anne-Marie, Mazereeuw-Hautier, Juliette, Maruani, Annabel, Puzenat, Eve, Thauvin-Robinet, Christel, Faivre, Laurence, and Vabres, Pierre
Published: 2023
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34. Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

Author: Carmignac, Virginie, Mignot, Cyril, Blanchard, Emmanuelle, Kuentz, Paul, Aubriot-Lorton, Marie-Hélène, Parker, Victoria E. R., Sorlin, Arthur, Fraitag, Sylvie, Courcet, Jean-Benoît, Duffourd, Yannis, Rodriguez, Diana, Knox, Rachel G., Polubothu, Satyamaanasa, Boland, Anne, Olaso, Robert, Delepine, Marc, Darmency, Véronique, Riachi, Melissa, Quelin, Chloé, Rollier, Paul, Goujon, Louise, Grotto, Sarah, Capri, Yline, Jacquemont, Marie-Line, Odent, Sylvie, Amram, Daniel, Chevarin, Martin, Vincent-Delorme, Catherine, Catteau, Benoît, Guibaud, Laurent, Arzimanoglou, Alexis, Keddar, Malika, Sarret, Catherine, Callier, Patrick, Bessis, Didier, Geneviève, David, Deleuze, Jean-François, Thauvin, Christel, Semple, Robert K., Philippe, Christophe, Rivière, Jean-Baptiste, Kinsler, Veronica A., Faivre, Laurence, and Vabres, Pierre
Published: 2021
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35. Lessons from two series by physicians and caregivers’ self-reported data, and DNA methylation profile in DDX3X-Related Disorders

Author: Geneviève, David, primary, Ruault, Valentin, additional, Burger, Pauline, additional, Gradels-Hauguel, Johanna, additional, Ruiz-Pallares, Nathalie, additional, Association, Xtraordinaire, additional, Jamra, Rami Abou, additional, Afenjar, Alexandra, additional, Alembik, Yves, additional, Alessandri, Jean-Luc, additional, Stéphanie, Arpin, additional, Barcia, Giulia, additional, Bendová, Šárka, additional, Bruel, Ange-Line, additional, Charles, Perrine, additional, Chatron, Nicolas, additional, Chopra, Maya, additional, Conrad, Solène, additional, Cormier-Daire, Valérie, additional, Cospain, Auriane, additional, Coubes, Christine, additional, Coursimault, Juliette, additional, Delahaye-Duriez, Andrée, additional, Doco-Fenzy, Martine, additional, Dufour, William, additional, Durand, Benjamin, additional, ENGEL, Camille, additional, Faivre, Laurence, additional, Ferroul, Fanny, additional, FRADIN, Mélanie, additional, Frenkiel, Hélène, additional, Fusco, Carlo, additional, Garavelli, Livia, additional, Garde, Aurore, additional, Gérard, Bénédicte, additional, Germanaud, David, additional, Goujon, Louise, additional, Gouronc, Aurélie, additional, Ginglinger, Emmanuelle, additional, Goldenberg, Alice, additional, Hancarova, Miroslava, additional, Héron, Delphine, additional, Isidor, Bertrand, additional, Marçais, Nolwenn Jean, additional, Keren, Boris, additional, Koch-Hogrebe, Margarete, additional, Kuentz, Paul, additional, Lamure, Victoria, additional, Lebre, Anne-Sophie, additional, Lecoquierre, François, additional, Lehman, Natacha, additional, Lesca, Gaetan, additional, Lyonnet, Stanislas, additional, Martin, Delphine, additional, Mignot, Cyril, additional, Neuhann, Teresa, additional, Nicolas, Gaël, additional, Nizon, Mathilde, additional, Petit, Florence, additional, Philippe, Christophe, additional, Piton, Amélie, additional, Pollazzon, Marzia, additional, Prchalova, Darina, additional, Putoux, Audrey, additional, RIO, Marlène, additional, Rondeau, Sophie, additional, Rossi, Massimiliano, additional, Sabbagh, Quentin, additional, Saugier-Veber, Pascale, additional, Schmetz, Ariane, additional, Steffann, Julie, additional, Thauvin-Robinet, Christel, additional, Toutain, Annick, additional, Tran-Mau-Them, Frédéric, additional, Trimarchi, Gabriele, additional, Vincent, Marie, additional, Vlckova, Marketa, additional, Wieczorek, Dagmar, additional, Willems, Marjolaine, additional, yauy, kevin, additional, Zelinová, Michaela, additional, Ziegler, Alban, additional, Chaumette, Boris, additional, Sadikovic, Bekim, additional, and Mandel, Jean-Louis, additional
Published: 2023
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36. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Author: Matuozzo, Daniela, Talouarn, Estelle, Marchal, Astrid, Zhang, Peng, Manry, Jeremy, Seeleuthner, Yoann, Zhang, Yu, Bolze, Alexandre, Chaldebas, Matthieu, Milisavljevic, Baptiste, Gervais, Adrian, Bastard, Paul, Asano, Takaki, Bizien, Lucy, Barzaghi, Federica, Abolhassani, Hassan, Abou Tayoun, Ahmad, Aiuti, Alessandro, Alavi Darazam, Ilad, Allende, Luis M., Alonso-Arias, Rebeca, Arias, Andrés Augusto, Aytekin, Gokhan, Bergman, Peter, Bondesan, Simone, Bryceson, Yenan T., Bustos, Ingrid G., Cabrera-Marante, Oscar, Carcel, Sheila, Carrera, Paola, Casari, Giorgio, Chaïbi, Khalil, Colobran, Roger, Condino-Neto, Antonio, Covill, Laura E., Delmonte, Ottavia M., El Zein, Loubna, Flores, Carlos, Gregersen, Peter K., Gut, Marta, Haerynck, Filomeen, Halwani, Rabih, Hancerli, Selda, Hammarström, Lennart, Hatipoğlu, Nevin, Karbuz, Adem, Keles, Sevgi, Kyheng, Christèle, Leon-Lopez, Rafael, Franco, Jose Luis, Mansouri, Davood, Martinez-Picado, Javier, Metin Akcan, Ozge, Migeotte, Isabelle, Morange, Pierre-Emmanuel, Morelle, Guillaume, Martin-Nalda, Andrea, Novelli, Giuseppe, Novelli, Antonio, Ozcelik, Tayfun, Palabiyik, Figen, Pan-Hammarström, Qiang, de Diego, Rebeca Pérez, Planas-Serra, Laura, Pleguezuelo, Daniel E., Prando, Carolina, Pujol, Aurora, Reyes, Luis Felipe, Rivière, Jacques G., Rodriguez-Gallego, Carlos, Rojas, Julian, Rovere-Querini, Patrizia, Schlüter, Agatha, Shahrooei, Mohammad, Sobh, Ali, Soler-Palacin, Pere, Tandjaoui-Lambiotte, Yacine, Tipu, Imran, Tresoldi, Cristina, Troya, Jesus, van de Beek, Diederik, Zatz, Mayana, Zawadzki, Pawel, Al-Muhsen, Saleh Zaid, Alosaimi, Mohammed Faraj, Alsohime, Fahad M., Baris-Feldman, Hagit, Butte, Manish J., Constantinescu, Stefan N., Cooper, Megan A., Dalgard, Clifton L., Fellay, Jacques, Heath, James R., Lau, Yu-Lung, Lifton, Richard P., Maniatis, Tom, Mogensen, Trine H., von Bernuth, Horst, Lermine, Alban, Vidaud, Michel, Boland, Anne, Deleuze, Jean-François, Nussbaum, Robert, Kahn-Kirby, Amanda, Mentre, France, Tubiana, Sarah, Gorochov, Guy, Tubach, Florence, Hausfater, Pierre, Abel, Laurent, Al-Muhsen, Saleh, Al-Mulla, Fahd, Anderson, Mark S., Andreakos, Evangelos, Arias, Andrés A., Feldman, Hagit Baris, Belot, Alexandre, Biggs, Catherine M., Bogunovic, Dusan, Bondarenko, Anastasiia, Bousfiha, Ahmed A., Brodin, Petter, Bryceson, Yenan, Bustamante, Carlos D., Chakravorty, Samya, Christodoulou, John, Desai, Murkesh, Drolet, Beth A., Baghdadi, Jamila El, Espinosa-Padilla, Sara, Franco, José Luis, Froidure, Antoine, Hagin, David, Henrickson, Sarah E., Hsieh, Elena W. Y., Husebye, Eystein, Imai, Kohsuke, Itan, Yuval, Jarvis, Erich D., Karamitros, Timokratis, Kisand, Kai, Ku, Cheng-Lung, Ling, Yun, Lucas, Carrie L., Maródi, László, Meyts, Isabelle, Milner, Joshua D., Mironska, Kristina, Morio, Tomohiro, Ng, Lisa F. P., Notarangelo, Luigi D., O’Farrelly, Cliona, Okada, Satoshi, Planas, Anna M., Quintana-Murci, Lluis, Renia, Laurent, Resnick, Igor, Rodríguez-Gallego, Carlos, Sancho-Shimizu, Vanessa, Sediva, Anna, Seppänen, Mikko R. J., Shcherbina, Anna, Slaby, Ondrej, Snow, Andrew L., Soler-Palacín, Pere, Spaan, András N., Tancevski, Ivan, Tangye, Stuart G., Ramaswamy, Sathishkumar, Turvey, Stuart E., Uddin, Furkan, Uddin, Mohammed J., Vinh, Donald C., Su, Helen C., Casanova, Jean-Laurent, Bureau, Serge, Vacher, Yannick, Gysembergh-Houal, Anne, Demerville, Lauren, Chachoua, Abla, Abad, Sebastien, Abassi, Radhiya, Abdellaoui, Abdelrafie, Abdelmalek, Abdelkrim, Abdoul, Hendy, Abergel, Helene, Abeud, Fariza, Abgrall, Sophie, Abisror, Noemie, Adechian, Marylise, Aderdour, Nordine, Admane, Hakeem Farid, Adnet, Frederic, Afritt, Sara, Agostini, Helene, Aguilar, Claire, Agut, Sophie, Aiello, Tommaso Francesco, Kaci, Marc Ait, Oufella, Hafid Ait, Ajeenthiravasan, Gokula, Alauzy, Virginie, Alby-Laurent, Fanny, Allard, Lucie, Alyanakian, Marie-Alexandra, Borrero, Blanca Amador, Amam, Sabrina, Amrouche, Lucile, Andronikof, Marc, Anglicheau, Dany, Anguel, Nadia, Annane, Djillali, Aounzou, Mohammed, Aparicio, Caroline, Aratus, Gladys, Arlet, Jean-Benoit, Arzoine, Jeremy, Aslangul, Elisabeth, Assefi, Mona, Aubry, Adeline, Audiffred, Laetitia, Audureau, Etienne, Auger, Christelle Nathalie, Auregan, Jean-Charles, Awotar, Celine, Milla, Sonia Ayllon, Azan, Delphine, Azemar, Laurene, Azzouguen, Billal, Elrufaai, Marwa Bachir, Badsi, Aïda, Bakouboula, Prissile, Balcerowiak, Coline, Balde, Fanta, Baldivia, Elodie, Bangamingo, Eliane-Flore, Baptiste, Amandine, Baran-Marszak, Fanny, Barau, Caroline, Barget, Nathalie, Baronnet, Flore, Barthelemy, Romain, Baudel, Jean-Luc, Baudry, Camille, Baudry, Elodie, Beaugerie, Laurent, Belamri, Adel, Belaube, Nicolas, Belilita, Rhida, Bellassen, Pierre, Belmokhtar, Rawan, Beltran, Isabel, Benainous, Ruben, Benallaoua, Mourad, Benamouzig, Robert, Benbara, Amélie, Benhida, Jaouad, Benkhelouf, Anis, Benlagha, Jihene, Benmostafa, Chahinez, Benothmane, Skander, Bentifraouine, Miassa, Berard, Laurence, Bernier, Quentin, Berti, Enora, Bertier, Astrid, Berton, Laure, Bessis, Simon, Beurton, Alexandra, Bianco, Celine, Bianquis, Clara, Bidar, Frank, Blanche, Philippe, Blayau, Clarisse, Bleibtreu, Alexandre, Blin, Emmanuelle, Bloch-Queyrat, Coralie, Boissier, Marie-Christophe, Bollens, Diane, Bolzoni, Marion, Bompard, Rudy pierre, Bonnet, Nicolas, Bonnouvrier, Justine, Botha, Shirmonecrystal, Boucenna, Wissam, Bouchama, Fatiha, Bouchaud, Olivier, Bouchghoul, Hanane, Boudjebla, Taoueslylia, Boudjema, Noel, Bouffard, Catherine, Bougle, Adrien, Bouguerra, Meriem, Bouras, Leila, Bourcier, Agnes, Durand, Anne Bourgarit, Bourrier, Anne, Bouscarat, Fabrice, Bouvry, Diane, Bouziri, Nesrine, Bouzrara, Ons, Bribier, Sarah, Brugier, Delphine, Brunel, Melanie, Bui, Eida, Buisson, Anne, Bukreyeva, Iryna, Bureau, Côme, Cadranel, Jacques, Cailhol, Johann, Calin, Ruxandra, Vega, Clara Campos, Canavaggio, Pauline, Cancella, Marta, Cantin, Delphine, Cao, Albert, Carbillon, Lionel, Carlier, Nicolas, Cassard, Clementine, Castor, Guylaine, Cauchy, Marion, Cha, Olivier, Chaigne, Benjamin, Challal, Salima, Champion, Karine, Chariot, Patrick, Chas, Julie, Chauveau, Simon, Chauvin, Anthony, Chauvin, Clement, Chavarot, Nathalie, Chebbout, Kamélia, Cherai, Mustapha, Cherubini, Ilaria, Chevalier, Amelie, Chiarabini, Thibault, Chinet, Thierry, Chocron, Richard, Choinier, Pascaline, Chommeloux, Juliette, Choquet, Christophe, Choupeaux, Laure, Chousterman, Benjamin, Ciocan, Dragosmarius, Clarke, Ada, Clavere, Gaëlle, Clavier, Florian, Clement, Karine, Clerc, Sebastien, Cohen, Yves, Cohen, Fleur, Cohen, Adrien, Coilly, Audrey, Colboc, Hester, Colin, Pauline, Collet, Magalie, Comarmond, Chloé, Combacon, Emeline, Combes, Alain, Comparon, Celine, Constantin, Jean-Michel, Cordel, Hugues, Cordier, Anne-Gael, Costantini, Adrien, Chalumeau, Nathalie Costedoat, Couffignal, Camille, Coupeau, Doriane, Creange, Alain, Lamarre, Yannie Cuvillier, Da Silveira, Charlène, Kayani, Sandrine Dautheville Guibal El, De Castro, Nathalie, De Rycke, Yann, Del Pozo, Lucie, Delannoy, Quentin, Delay, Mathieu, Deleris, Robin, Delforge, Juliette, Delphine, Laëtitia, Demare, Noemie, Demeret, Sophie, Demoule, Alexandre, Deniau, Aurore, Depret, François, Derolez, Sophie, Derradji, Ouda, Derridj, Nawal, Descamps, Vincent, Deschamps, Lydia, Desconclois, Celine, Desnos, Cyrielle, Desongins, Karine, Dhote, Robin, Diallo, Benjamin, Didier, Morgane, Diemer, Myriam, Diez, Stephane, Djadi-Prat, Juliette, Monnory, Fatima-Zohra Djamouri, Djebara, Siham, Djebra, Naoual, Djietcheu, Minette, Djillali, Hadjer, Djouadi, Nouara, Donneger, Severine, Dos Santos, Catarina, Dournon, Nathalie, Dres, Martin, Droctove, Laura, Drogrey, Marie, Dropy, Margot, Drouet, Elodie, Dubosq, Valérie, Dubreucq, Evelyne, Dubus, Estelle, Duchemann, Boris, Duchenoy, Thibault, Dudoignon, Emmanuel, Dufau, Romain, Dumas, Florence, Duran, Clara, Duron, Emmanuelle, Durrbach, Antoine, Duvivier, Claudine, Ebstein, Nathan, Khalifa, Jihane El, Elabbadi, Alexandre, Elie, Caroline, Ernotte, Gabriel, Esling, Anne, Etienne, Martin, Eyer, Xavier, Fartoukh, Muriel sarah, Fayali, Takoua, Fermaut, Marion, Fiorentino, Arianna, Fliss, Souha, Fournier, Marie-Céline, Fournier, Benjamin, Francois, Hélène, Freynet, Olivia, Frigout, Yvann, Fromont, Isaure, Fuentes, Axelle, Furet, Thomas, Galand, Joris, Garnier, Marc, Gaubert, Agnes, Gaudry, Stéphane, Gaugain, Samuel, Gauthier, Damien, Gautier, Maxime, Georgin-Lavialle, Sophie, Geromin, Daniela, Ghalayini, Mohamed, Ghaleh, Bijan, Ghezal, Myriam, Gibelin, Aude, Gimeno, Linda, Girard, Benoit, Leprieur, Bénédicte Giroux, Gomes, Doryan, Gomes-Pires, Elisabete, Gouge, Anne, Gouja, Amel, Goulet, Helene, Goupil, Sylvain, De Bouille, Jeanne Goupil, Gras, Julien, Greffe, Segolene, Grimaldi, Lamiae, Guedeney, Paul, Guidet, Bertrand, Guillo, Matthias, Gulczynski, Mariechristelle, Hadjam, Tassadit, Haguenauer, Didier, Hammal, Soumeya, Hammoudi, Nadjib, Hanon, Olivier, Harrois, Anarole, Hautem, Coraline, Hekimian, Guillaume, Heming, Nicholas, Hermine, Olivier, Ho, Sylvie, Houllier, Marie, Huot, Benjamin, Huscenot, Tessa, Saied, Wafa Ibn, Ikherbane, Ghilas, Imarazene, Meriem, Ingiliz, Patrick, Iratni, Lina, Jaureguiberry, Stephane, Jean-Marc, Jean-Francois, Jeyarajasingham, Deleena, Jouany, Pauline, Jouis, Veronique, Jourdaine, Clement, Kafif, Ouifiya, Kallala, Rim, Katsahian, Sandrine, Kelesyan, Lilit, Keo, Vixra, Ketz, Flora, Khamis, Warda, Khelili, Enfel, Khellaf, Mehdi, Youkou, Christy Gaëlla Kotokpo, Kounis, Ilias, Kpalma, Gaelle, Krause, Jessica, Labbe, Vincent, Lacombe, Karine, Lacorte, Jean-Marc, Lafont, Anne Gaelle, Lafont, Emmanuel, Lagha, Lynda, Lamhaut, Lionel, Lancelot, Aymeric, Landman, Cecilia, Lanternier, Fanny, Larcheveque, Cecile, Combe, Caroline Lascoux, Lassel, Ludovic, Laverdant, Benjamin, Lavergne, Christophe, Lavillegrand, Jean-Rémi, Lazureanu, Pompilia, Le Guennec, Loïc, Leberre, Lamia, Leblanc, Claire, Leboyer, Marion, Lecomte, Francois, Lecorre, Marine, Leenhardt, Romain, Lefebvre, Marylou, Lefebvre, Bénédicte, Legendre, Paul, Leger, Anne, Legros, Laurence, Legrosse, Justyna, Lehuunghia, Sébastien, Lemarec, Julien, Leporrier-Ext, Jeremie, Lesein, Manon, Lesur, Hubert, Levy, Vincent, Levy, Albert, Lopes, Edwige, Lopes, Amanda, Lopez, Vanessa, Lopinto, Julien, Lortholary, Olivier, Louadah, Badr, Loze, Bénédicte, Lucas, Marie-Laure, Lucasamichi, Axelle, Luong, Liem Binh, Magazimama-Ext, Arouna, Maingret, David, Mameri, Lakhdar, Manivet, Philippe, Mansouri, Cylia, Marcault, Estelle, Marey, Jonathan, Marin, Nathalie, Marois, Clémence, Martin, Olivier, Martineau, Lou, Martinez-Lopez, Cannelle, Martyniuck, Pierre, De Farcy, Pauline Mary, Marzouk, Nessrine, Masmoudi, Rafik, Mebazaa, Alexandre, Mechai, Frédéric, Mecozzi, Fabio, Mediouni, Chamseddine, Megarbane, Bruno, Meghadecha, Mohamed, Mejean, Élodie, Mekinian, Arsene, Abdelhadi, Nour Mekki, Mekni, Rania, Meliti, Thinhinan Sabrina, Lima, Breno Melo, Meng, Paris, Merbah, Soraya, Messani, Fadhila, Messaoudi, Yasmine, Mewasing, Baboo-Irwinsingh, Meziane, Lydia, Michelot-Burger, Carole, Mignot, Françoise, Minka, Fadi Hillary, Miyara, Makoto, Moine, Pierre, Molina, Jean-Michel, Montegnies-Boulet, Anaïs, Monti, Alexandra, Montlahuc, Claire, Montout, Anne-Lise, Moores, Alexandre, Morbieu, Caroline, Mortelette, Helene, Mouly, Stéphane, Muzaffar, Rosita, Nacerddine, Cherifa Iness, Nadal, Marine, Nadif, Hajer, Nassarmadji, Kladoum, Natella, Pierre, Ndingamondze, Sandrine, Neraal, Stefan, Nguyen, Caroline, N’Guyen, Bao, Larmurier, Isabelle Nion, Nlomenyengue, Luc, Noel, Nicolas, Nunes, Hilario, Omar, Edris, Ouazene, Zineb, Ouedraogo, Elise, Ouelaa, Wassila, Oukhedouma, Anissa, Amara, Yasmina Ould, Oya, Herve, Oziel, Johanna, Padilla, Thomas, Paillaud, Elena, Paiva, Solenne, Parfait, Beatrice, Parize, Perrine, Parizot, Christophe, Parrot, Antoine, Pavot, Arthur, Peaudecerf, Laetitia, Pene, Frédéric, Pepin, Marion, Pernet, Julie, Pernin, Claire, Petit, Mylène, Peyrony, Olivier, Pietri, Marie-Pierre, Pietri, Olivia, De Chambrun, Marc Pineton, Pinson, Michelle, Pintado, Claire, Piquard, Valentine, Pires, Christine, Planquette, Benjamin, Poirier, Sandrine, Pomel, Anne-Laure, Pons, Stéphanie, Ponscarme, Diane, Pourcelot, Annegaelle, Pourcher, Valérie, Pouvaret, Anne, Prever, Florian, Previlon, Miresta, Prevost, Margot, Provoost, Marie-Julie, Quemeneur, Cyril, Rafat, Cédric, Rami, Agathe, Ranque, Brigitte, Raphael, Maurice, Raphalen, Jean Herle, Rastoin, Anna, Raux, Mathieu, Rebai, Amani, Reby, Michael, Regent, Alexis, Regrag, Asma, Resche-Rigon, Matthieu, Ressaire, Quentin, Richard, Christian, Richard, Mariecaroline, Robert, Maxence, Rohaut, Benjamin, Rolland-Debord, Camille, Ropers, Jacques, Roque-Afonso, Anne-Marie, Rosso, Charlotte, Rousseaux, Mélanie, Rousseaux, Nabila, Roux, Swasti, Roux, Lorène, Rouzaud, Claire, Rozes, Antoine, Rubenstein, Emma, Sabate, Jean-Marc, Sabet, Sheila, Sacleux, Sophie-Caroline, Kermanach, Nathalie Saidenberg, Saliba, Faouzi, Salmon, Dominique, Savale, Laurent, Savary, Guillaume, Sberro, Rebecca, Scemla, Anne, Schlemmer, Frederic, Schwartz, Mathieu, Sedfi, Saïd, Sefir-Kribel, Samia, Seksik, Philippe, Sellier, Pierre, Selves, Agathe, Sembach, Nicole, Semerano, Luca, Senat, Marie-Victoire, Sene, Damien, Serris, Alexandra, Sese, Lucile, Sghiouar, Naima, Sigaux, Johanna, Siguier, Martin, Silvain, Johanne, Simon, Noémie, Simon, Tabassome, Skandri, Lina Innes, Slimani, Miassa, Snauwaert, Aurélie, Sokol, Harry, Soliman, Heithem, Soltani, Nisrine, Soyer, Benjamin, Steg, Gabriel, Suarez, Lydia, Szwebel, Tali-Anne, Taffame, Kossi, Tantet, Claire, Tateo, Mariagrazia, Theodose, Igor, Thiebaud, Pierre clement, Thomas, Caroline, Tiercelet, Kelly, Tisserand, Julie, Tomczak, Carole, Torelino, Krystel, Touam-Ext, Fatima, Toumi, Lilia, Toury, Gustave, Toy-Miou, Mireille, Lien, Olivia Tran Dinh Thanh, Trandinh, Alexy, Treluyer, Jean-Marc, Trinque, Baptiste, Truchot, Jennifer, Tunesi, Simone, Turpin, Matthieu, Turpin, Agathe, Urbina, Tomas, Narvaez, Rafael Usubillaga, Uzunhan, Yurdagul, Vaittinadaayar, Prabakar, Valent, Arnaud, Valentian, Maelle, Valin, Nadia, Vallet, Hélène, Vaz, Marina, Vazquezibarra, Miguel-Alejandro, Vedie, Benoit, Velly, Laetitia, Verstuyft, Celine, Viallette, Cedric, Vicaut, Eric, Vignes, Dorothee, Vimpere, Damien, Virlouvet, Myriam, Voiriot, Guillaume, Voisot, Lena, Weiss, Emmanuel, Weiss, Nicolas, Winchenne, Anaïs, Yordanov, Youri, Zafrani, Lara, Zaidan, Mohamad, Zaidi, Wissem, Zak, Cathia, Zarhrate-Ghoul, Aida, Zatout, Ouassila, Zeino, Suzanne, Zeitouni, Michel, Zemirli, Naïma, Zerah, Lorene, Zia, Ounsa, Ziol, Marianne, Zolario, Oceane, Zuber, Julien, Andrejak, Claire, Angoulvant, François, Bachelet, Delphine, Bartoli, Marie, Basmaci, Romain, Behilill, Sylvie, Beluze, Marine, Benkerrou, Dehbia, Bhavsar, Krishna, Bouadma, Lila, Bouchez, Sabelline, Bouscambert, Maude, Cervantes-Gonzalez, Minerva, Chair, Anissa, Chirouze, Catherine, Coelho, Alexandra, Couffin-Cadiergues, Sandrine, d’Ortenzio, Eric, Debray, Marie-Pierre, Deconinck, Lauren, Deplanque, Dominique, Descamps, Diane, Desvallée, Mathilde, Diallo, Alpha, Diouf, Alphonsine, Dorival, Céline, Dubos, François, Duval, Xavier, Elharrar, Brigitte, Eloy, Philippine, Enouf, Vincent, Esperou, Hélène, Esposito-Farese, Marina, Etienne, Manuel, Devouge, Eglantine Ferrand, Gault, Nathalie, Gaymard, Alexandre, Ghosn, Jade, Gigante, Tristan, Gilg, Morgane, Guedj, Jérémie, Hoctin, Alexandre, Hoffmann, Isabelle, Houas, Ikram, Hulot, Jean-Sébastien, Jaafoura, Salma, Kaguelidou, Florentia, Kali, Sabrina, Khalil, Antoine, Khan, Coralie, Laouénan, Cédric, Laribi, Samira, Le, Minh, Le Hingrat, Quentin, Le Mestre, Soizic, Le Nagard, Hervé, Lescure, François-Xavier, Letrou, Sophie, Levy, Yves, Lina, Bruno, Lingas, Guillaume, Lucet, Jean Christophe, Malvy, Denis, Mambert, Marina, Mentré, France, Meziane, Amina, Mouquet, Hugo, Mullaert, Jimmy, Neant, Nadège, Nguyen, Duc, Noret, Marion, Nseir, Saad, Papadopoulos, Aurélie, Paul, Christelle, Peiffer-Smadja, Nathan, Perpoint, Thomas, Petrov-Sanchez, Ventzislava, Peytavin, Gilles, Pham, Huong, Picone, Olivier, Puéchal, Oriane, Rabaud, Christian, Rosa-Calatrava, Manuel, Rossignol, Bénédicte, Rossignol, Patrick, Roy, Carine, Schneider, Marion, Su, Richa, Tardivon, Coralie, Tellier, Marie-Capucine, Téoulé, François, Terrier, Olivier, Timsit, Jean-François, Tual, Christelle, Van Der Werf, Sylvie, Vanel, Noémie, Veislinger, Aurélie, Visseaux, Benoit, Wiedemann, Aurélie, Yazdanpanah, Yazdan, Alavoine, Loubna, Behillil, Sylvie, Burdet, Charles, Charpentier, Charlotte, Dechanet, Aline, Ecobichon, Jean-Luc, Frezouls, Wahiba, Houhou, Nadhira, Lehacaut, Jonathan, Lucet, Jean-Christophe, Manchon, Pauline, Nouroudine, Mariama, Quintin, Caroline, Thy, Michael, van der Werf, Sylvie, Vignali, Valérie, Chahine, Abir, Waucquier, Nawal, Migaud, Maria-Claire, Djossou, Félix, Mergeay-Fabre, Mayka, Lucarelli, Aude, Demar, Magalie, Bruneau, Léa, Gérardin, Patrick, Maillot, Adrien, Payet, Christine, Laviolle, Bruno, Laine, Fabrice, Paris, Christophe, Desille-Dugast, Mireille, Fouchard, Julie, Pistone, Thierry, Perreau, Pauline, Gissot, Valérie, Goas, Carole L. E., Montagne, Samatha, Richard, Lucie, Bouiller, Kévin, Desmarets, Maxime, Meunier, Alexandre, Bourgeon, Marilou, Lefévre, Benjamin, Jeulin, Hélène, Legrand, Karine, Lomazzi, Sandra, Tardy, Bernard, Gagneux-Brunon, Amandine, Bertholon, Frédérique, Botelho-Nevers, Elisabeth, Christelle, Kouakam, Nicolas, Leturque, Roufai, Layidé, Amat, Karine, Espérou, Hélène, Hendou, Samia, Foti, Giuseppe, Bellani, Giacomo, Citerio, Giuseppe, Contro, Ernesto, Pesci, Alberto, Valsecchi, Maria Grazia, Cazzaniga, Marina, Abad, Jorge, Accordino, Giulia, Achille, Cristian, Aguilera-Albesa, Sergio, Aguiló-Cucurull, Aina, Özkan, Esra Akyüz, Albisures, Jonathan Antonio Roblero, Aldave, Juan C., Ramos, Miquel Alfonso, Khan, Taj Ali, Aliberti, Anna, Nadji, Seyed Alireza, Alkan, Gulsum, AlKhater, Suzan A., Allardet-Servent, Jerome, Alshahrani, Mohammed S., Alsina, Laia, Amoura, Zahir, Antolí, Arnau, Arrestier, Romain, Aubart, Mélodie, Auguet, Teresa, Avramenko, Iryna, Aytekin, Gökhan, Azot, Axelle, Bahram, Seiamak, Bajolle, Fanny, Baldanti, Fausto, Baldolli, Aurélie, Ballester, Maite, Barrou, Benoit, Basso, Sabrina, Bayhan, Gulsum Iclal, Bezrodnik, Liliana, Bilbao, Agurtzane, Blanchard-Rohner, Geraldine, Blanco, Ignacio, Blandinières, Adeline, Blázquez-Gamero, Daniel, Bloomfield, Marketa, Bolivar-Prados, Mireia, Borghesi, Alessandro, Borie, Raphael, Botdhlo-Nevers, Elisabeth, Bousquet, Aurore, Boutolleau, David, Bouvattier, Claire, Boyarchuk, Oksana, Bravais, Juliette, Briones, M. Luisa, Brunner, Marie-Eve, Bruno, Raffaele, Bueno, Maria Rita P., Bukhari, Huda, Bustamante, Jacinta, Agra, Juan José Cáceres, Capra, Ruggero, Carapito, Raphael, Carrabba, Maria, Casasnovas, Carlos, Caseris, Marion, Cassaniti, Irene, Castelle, Martin, Castelli, Francesco, de Vera, Martín Castillo, Castro, Mateus V., Catherinot, Emilie, Celik, Jale Bengi, Ceschi, Alessandro, Chalumeau, Martin, Charbit, Bruno, Cheng, Matthew P., Clavé, Père, Clotet, Bonaventura, Codina, Anna, Comarmond, Cloé, Comoli, Patrizia, Corsico, Angelo G., Sozeri, Betul, Coşkuner, Taner, Cvetkovski, Aleksandar, Cyrus, Cyril, Dalmau, David, Danion, François, Darley, David Ross, Das, Vincent, Dauby, Nicolas, Dauger, Stéphane, De Munter, Paul, de Pontual, Loic, Dehban, Amin, Delplancq, Geoffroy, Desguerre, Isabelle, Di Sabatino, Antonio, Diehl, Jean-Luc, Dobbelaere, Stephanie, Domínguez-Garrido, Elena, Dubost, Clément, Ekwall, Olov, Bozdemir, Şefika Elmas, Elnagdy, Marwa H., Emiroglu, Melike, Endo, Akifumi, Erdeniz, Emine Hafize, Aytekin, Selma Erol, Lasa, Maria Pilar Etxart, Euvrard, Romain, Fabio, Giovanna, Faivre, Laurence, Falck, Antonin, Fartoukh, Muriel, Faure, Morgane, Arquero, Miguel Fernandez, Ferrer, Ricard, Ferreres, Jose, Francois, Bruno, Fumadó, Victoria, Fung, Kitty S. C., Fusco, Francesca, Gagro, Alenka, Solis, Blanca Garcia, Garçon, Pierre, Gaussem, Pascale, Gayretli, Zeynep, Gil-Herrera, Juana, Gilardin, Laurent, Gatineau, Audrey Giraud, Girona-Alarcón, Mònica, Godínez, Karen Alejandra Cifuentes, Goffard, Jean-Christophe, Gonzales, Nacho, Gonzalez-Granado, Luis I., González-Montelongo, Rafaela, Guerder, Antoine, Gülhan, Belgin, Gumucio, Victor Daniel, Hanitsch, Leif Gunnar, Gunst, Jan, Hadjadj, Jérôme, Hariyan, Tetyana, Hatipoglu, Nevin, Heppekcan, Deniz, Hernandez-Brito, Elisa, Ho, Po-ki, Holanda-Peña, María Soledad, Horcajada, Juan P., Hraiech, Sami, Humbert, Linda, Hung, Ivan F. N., Iglesias, Alejandro D., Íñigo-Campos, Antonio, Jamme, Matthieu, Arranz, María Jesús, Jimeno, Marie-Thérèse, Jordan, Iolanda, Yüksek, Saliha Kanık, Kara, Yalcin Burak, Karahan, Aydın, Yasar, Kadriye Kart, Kasapcopur, Ozgur, Kashimada, Kenichi, Demirkol, Yasemin Kendir, Kido, Yasutoshi, Kizil, Can, Kılıç, Ahmet Osman, Klocperk, Adam, Koutsoukou, Antonia, Król, Zbigniew J., Ksouri, Hatem, Kuentz, Paul, Kwan, Arthur M. C., Kwan, Yat Wah M., Kwok, Janette S. Y., Lagier, Jean-Christophe, Lam, David S. Y., Lampropoulou, Vicky, Le Bourgeois, Fleur, Leo, Yee-Sin, Lopez, Rafael Leon, Leung, Daniel, Levin, Michael, Levy, Michael, Lévy, Romain, Li, Zhi, Lilleri, Daniele, Lima, Edson Jose Adrian Bolanos, Linglart, Agnes, López-Collazo, Eduardo, Lorenzo-Salazar, José M., Louapre, Céline, Lubetzki, Catherine, Lung, Kwok-Cheung, Luyt, Charles-Edouard, Lye, David C., Magnone, Cinthia, Marchioni, Enrico, Marioli, Carola, Marjani, Majid, Marques, Laura, Pereira, Jesus Marquez, Martín-Nalda, Andrea, Pueyo, David Martínez, Marzana, Iciar, Mata-Martínez, Carmen, Mathian, Alexis, Matos, Larissa R. B., Matthews, Gail V., Mayaux, Julien, McLaughlin-Garcia, Raquel, Meersseman, Philippe, Mège, Jean-Louis, Mekontso-Dessap, Armand, Melki, Isabelle, Meloni, Federica, Meritet, Jean-François, Merlani, Paolo, Akcan, Özge Metin, Mezidi, Mehdi, Millereux, Maude, Million, Matthieu, Mirault, Tristan, Mircher, Clotilde, Mirsaeidi, Mehdi, Mizoguchi, Yoko, Modi, Bhavi P., Mojoli, Francesco, Moncomble, Elsa, Melián, Abián Montesdeoca, Martinez, Antonio Morales, Morandeira, Francisco, Mordacq, Cléemence, Mouly, Stéphane J., Muñoz-Barrera, Adrián, Nafati, Cyril, Nagashima, Shintaro, Nakagama, Yu, Neven, Bénédicte, Neves, João Farela, Ng, Yuk-Yung, Nielly, hubert, Medina, Yeray Novoa, Cuadros, Esmeralda Nuñez, Ocejo-Vinyals, J. Gonzalo, Okamoto, Keisuke, Oualha, Mehdi, Ouedrani, Amani, Özçelik, Tayfun, Ozkaya-Parlakay, Aslinur, Pagani, Michele, Papadaki, Maria, Parola, Philippe, Pascreau, Tiffany, Paul, Stéphane, Paz-Artal, Estela, Pedraza, Sigifredo, Pellecer, Nancy Carolina González, Pellegrini, Silvia, Pérez-Fernández, Xosé Luis, Philippe, Aurélien, Philippot, Quentin, Picod, Adrien, de Chambrun, Marc Pineton, Piralla, Antonio, Ploin, Dominique, Poissy, Julien, Poncelet, Géraldine, Poulakou, Garyphallia, Pouletty, Marie S., Pourshahnazari, Persia, Qiu-Chen, Jia Li, Quentric, Paul, Rambaud, Thomas, Raoult, Didier, Raoult, Violette, Rebillat, Anne-Sophie, Redin, Claire, Resmini, Léa, Ricart, Pilar, Richard, Jean-Christophe, Rigo-Bonnin, Raúl, rivet, Nadia, Rocamora-Blanch, Gemma, Rodero, Mathieu P., Rodrigo, Carlos, Rodriguez, Luis Antonio, Rodriguez-Palmero, Agustí, Romero, Carolina Soledad, Rothenbuhler, Anya, Roux, Damien, Rovina, Nikoletta, Rozenberg, Flore, Ruch, Yvon, Ruiz, Montse, del Prado, Maria Yolanda Ruiz, Ruiz-Rodriguez, Juan Carlos, Sabater-Riera, Joan, Saks, Kai, Salagianni, Maria, Sanchez, Oliver, Sánchez-Montalvá, Adrián, Sánchez-Ramón, Silvia, Schidlowski, Laire, Schluter, Agatha, Schmidt, Julien, Schmidt, Matthieu, Schuetz, Catharina, Schweitzer, Cyril E., Scolari, Francesco, Seijo, Luis, Seminario, Analia Gisela, Seng, Piseth, Senoglu, Sevtap, Seppänen, Mikko, Llovich, Alex Serra, Siguret, Virginie, Siouti, Eleni, Smadja, David M., Smith, Nikaia, Solanich, Xavier, Solé-Violán, Jordi, Soler, Catherine, Sözeri, Betül, Stella, Giulia Maria, Stepanovskiy, Yuriy, Stoclin, Annabelle, Taccone, Fabio, Taupin, Jean-Luc, Tavernier, Simon, Tello, Loreto Vidaur, Terrier, Benjamin, Thiery, Guillaume, Thorball, Christian, Thorn, Karolina, Thumerelle, Caroline, Tolstrup, Martin, Tomasoni, Gabriele, Toubiana, Julie, Alvarez, Josep Trenado, Triantafyllia, Vasiliki, Trouillet-Assant, Sophie, Troya, Jesús, Tsang, Owen T. Y., Tserel, Liina, Tso, Eugene Y. K., Tucci, Alessandra, Öz, Şadiye Kübra Tüter, Ursini, Matilde Valeria, Utsumi, Takanori, Vabres, Pierre, Valencia-Ramos, Juan, Van Den Rym, Ana Maria, Vandernoot, Isabelle, Velez-Santamaria, Valentina, Veliz, Silvia Patricia Zuniga, Vidigal, Mateus C., Viel, Sébastien, Villain, Cédric, Vilaire-Meunier, Marie E., Villar-García, Judit, Vincent, Audrey, Volokha, Alla, Vuotto, Fanny, Wauters, Els, Wauters, Joost, Wu, Alan K. L., Wu, Tak-Chiu, Yahşi, Aysun, Yesilbas, Osman, Yildiz, Mehmet, Young, Barnaby E., Yükselmiş, Ufuk, Zecca, Marco, Zuccaro, Valentina, Van Praet, Jens, Lambrecht, Bart, Van Braeckel, Eva, Bosteels, Cedric, Hoste, Levi, Hoste, Eric, Bauters, Fre, Heijmans, Catherine, Slabbynck, Hans, Naesens, Leslie, Florkin, Benoit, Boulanger, Cécile, Vanderlinden, Dimitri, Berkell, Matilda, Carelli, Valerio, Fiorentino, Alessio, Malhotra, Surbi, Mattiaccio, Alessandro, Pippucci, Tommaso, Seri, Marco, Tacconelli, Evelina, van Agtmael, Michiel, Algera, Anne Geke, Appelman, Brent, van Baarle, Frank, Bax, Diane, Beudel, Martijn, Bogaard, Harm Jan, Bomers, Marije, Bonta, Peter, Bos, Lieuwe, Botta, Michela, de Brabander, Justin, de Bree, Godelieve, de Bruin, Sanne, Buis, David T. P., Bugiani, Marianna, Bulle, Esther, Cloherty, Osoul Chouchane Alex, Dijkstra, Mirjam, Dongelmans, Dave A., Dujardin, Romein W. G., Elbers, Paul, Fleuren, Lucas, Geijtenbeek, Suzanne Geerlings Theo, Girbes, Armand, Goorhuis, Bram, Grobusch, Martin P., Hafkamp, Florianne, Hagens, Laura, Hamann, Jorg, Harris, Vanessa, Hemke, Robert, Heunks, Sabine M. Hermans Leo, Hollmann, Markus, Horn, Janneke, Hovius, Joppe W., de Jong, Menno D., Koning, Rutger, Lim, Endry H. T., van Mourik, Niels, Nellen, Jeaninne, Nossent, Esther J., Paulus, Frederique, Peters, Edgar, Pina-Fuentes, Dan A. I., van der Poll, Tom, Preckel, Bennedikt, Prins, Jan M., Raasveld, Jorinde, Reijnders, Tom, de Rotte, Maurits C. F. J., Schinkel, Michiel, Schultz, Marcus J., Schrauwen, Femke A. P., Schuurmans, Alex, Schuurmans, Jaap, Sigaloff, Kim, Slim, Marleen A., Smeele, Patrick, Smit, Marry, Stijnis, Cornelis S., Stilma, Willemke, Teunissen, Charlotte, Thoral, Patrick, Tsonas, Anissa M., Tuinman, Pieter R., van der Valk, Marc, Veelo, Denise, Volleman, Carolien, de Vries, Heder, Vught, Lonneke A., van Vugt, Michèle, Wouters, Dorien, Zwinderman, A. H., Brouwer, Matthijs C., Wiersinga, W. Joost, Vlaar, Alexander P. J., Tompkins, Miranda F., Alba, Camille, Hupalo, Daniel N., Rosenberger, John, Sukumar, Gauthaman, Wilkerson, Matthew D., Zhang, Xijun, Lack, Justin, Oler, Andrew J., Dobbs, Kerry, Danielson, Jeffrey J., Biondi, Andrea, Bettini, Laura Rachele, D’Angio’, Mariella, Beretta, Ilaria, Imberti, Luisa, Sottini, Alessandra, Quaresima, Virginia, Quiros-Roldan, Eugenia, Rossi, Camillo, Zhang, Shen-Ying, Declercq, Jozefien, Puel, Anne, Boisson-Dupuis, Stephanie, Boisson, Bertrand, Jouanguy, Emmanuelle, Zhang, Qian, Cobat, Aurélie, COVID Human Genetic Effort, [missing], COVIDeF Study Group, [missing], French COVID Cohort Study Group, [missing], CoV-Contact Cohort, [missing], COVID-STORM Clinicians, [missing], COVID Clinicians, [missing], Orchestra Working Group, [missing], Amsterdam UMC Covid-19 Biobank, [missing], and NIAID-USUHS COVID Study Group, [missing]
Subjects: Medicine and Health Sciences, Genetics, Molecular Medicine, Molecular Biology, Genetics (clinical)
Published: 2023

37. Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders

Author: Colin, Estelle, primary, Duffourd, Yannis, additional, Chevarin, Martin, additional, Tisserant, Emilie, additional, Verdez, Simon, additional, Paccaud, Julien, additional, Bruel, Ange-Line, additional, Tran Mau-Them, Frédéric, additional, Denommé-Pichon, Anne-Sophie, additional, Thevenon, Julien, additional, Safraou, Hana, additional, Besnard, Thomas, additional, Goldenberg, Alice, additional, Cogné, Benjamin, additional, Isidor, Bertrand, additional, Delanne, Julian, additional, Sorlin, Arthur, additional, Moutton, Sébastien, additional, Fradin, Mélanie, additional, Dubourg, Christèle, additional, Gorce, Magali, additional, Bonneau, Dominique, additional, El Chehadeh, Salima, additional, Debray, François-Guillaume, additional, Doco-Fenzy, Martine, additional, Uguen, Kevin, additional, Chatron, Nicolas, additional, Aral, Bernard, additional, Marle, Nathalie, additional, Kuentz, Paul, additional, Boland, Anne, additional, Olaso, Robert, additional, Deleuze, Jean-François, additional, Sanlaville, Damien, additional, Callier, Patrick, additional, Philippe, Christophe, additional, Thauvin-Robinet, Christel, additional, Faivre, Laurence, additional, and Vitobello, Antonio, additional
Published: 2023
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38. TELO2 ‐related syndrome ( You‐Hoover‐Fong syndrome): Description of 14 new affected individuals and review of the literature

Author: Albokhari, Daniah, primary, Pritchard, Amanda Barone, additional, Beil, Adelyn, additional, Muss, Candace, additional, Bupp, Caleb, additional, Grange, Dorothy K., additional, Delplancq, Geoffroy, additional, Heeley, Jennifer, additional, Zuteck, Melissa, additional, Morrow, Michelle M., additional, Kuentz, Paul, additional, Palculict, Timothy Blake, additional, and Hoover‐Fong, Julie E., additional
Published: 2023
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39. The “extreme phenotype approach” applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles

Author: Chevarin, Martin, primary, Alcantara, Diana, additional, Albuisson, Juliette, additional, Collonge-Rame, Marie-Agnès, additional, Populaire, Céline, additional, Selmani, Zohair, additional, Baurand, Amandine, additional, Sawka, Caroline, additional, Bertolone, Geoffrey, additional, Callier, Patrick, additional, Duffourd, Yannis, additional, Jonveaux, Philippe, additional, Bignon, Yves-Jean, additional, Coupier, Isabelle, additional, Cornelis, François, additional, Cordier, Christophe, additional, Mozelle-Nivoix, Monique, additional, Rivière, Jean-Baptiste, additional, Kuentz, Paul, additional, Thauvin, Christel, additional, Boidot, Romain, additional, Ghiringhelli, François, additional, O'Driscoll, Marc, additional, Faivre, Laurence, additional, and Nambot, Sophie, additional
Published: 2023
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40. 9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

Author: Nambot, Sophie, Masurel, Alice, El Chehadeh, Salima, Mosca-Boidron, Anne-Laure, Thauvin-Robinet, Christel, Lefebvre, Mathilde, Marle, Nathalie, Thevenon, Julien, Perez-Martin, Stéphanie, Dulieu, Véronique, Huet, Frédéric, Plessis, Ghislaine, Andrieux, Joris, Jouk, Pierre-Simon, Billy-Lopez, Gipsy, Coutton, Charles, Morice-Picard, Fanny, Delrue, Marie-Ange, Heron, Delphine, Rooryck, Caroline, Goldenberg, Alice, Saugier-Veber, Pascale, Joly-Hélas, Géraldine, Calenda, Patricia, Kuentz, Paul, Manouvrier-Hanu, Sylvie, Dupuis-Girod, Sophie, Callier, Patrick, and Faivre, Laurence
Published: 2016
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41. A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

Author: Poirsier, Céline, Besseau-Ayasse, Justine, Schluth-Bolard, Caroline, Toutain, Jérôme, Missirian, Chantal, Le Caignec, Cédric, Bazin, Anne, de Blois, Marie Christine, Kuentz, Paul, Catty, Marie, Choiset, Agnès, Plessis, Ghislaine, Basinko, Audrey, Letard, Pascaline, Flori, Elisabeth, Jimenez, Mélanie, Valduga, Mylène, Landais, Emilie, Lallaoui, Hakima, Cartault, François, Lespinasse, James, Martin-Coignard, Dominique, Callier, Patrick, Pebrel-Richard, Céline, Portnoi, Marie-France, Busa, Tiffany, Receveur, Aline, Amblard, Florence, Yardin, Catherine, Harbuz, Radu, Prieur, Fabienne, Le Meur, Nathalie, Pipiras, Eva, Kleinfinger, Pascale, Vialard, François, and Doco-Fenzy, Martine
Published: 2016
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42. Heterozygous deletion of the LRFN2 gene is associated with working memory deficits

Author: Thevenon, Julien, Souchay, Céline, Seabold, Gail K, Dygai-Cochet, Inna, Callier, Patrick, Gay, Sébastien, Corbin, Lucie, Duplomb, Laurence, Thauvin-Robinet, Christel, Masurel-Paulet, Alice, El Chehadeh, Salima, Avila, Magali, Minot, Delphine, Guedj, Eric, Chancenotte, Sophie, Bonnet, Marlène, Lehalle, Daphne, Wang, Ya-Xian, Kuentz, Paul, Huet, Frédéric, Mosca-Boidron, Anne-Laure, Marle, Nathalie, Petralia, Ronald S, and Faivre, Laurence
Published: 2016
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43. 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

Author: Jacquin, Clémence, primary, Landais, Emilie, additional, Poirsier, Céline, additional, Afenjar, Alexandra, additional, Akhavi, Ahmad, additional, Bednarek, Nathalie, additional, Bénech, Caroline, additional, Bonnard, Adeline, additional, Bosquet, Damien, additional, Burglen, Lydie, additional, Callier, Patrick, additional, Chantot‐Bastaraud, Sandra, additional, Coubes, Christine, additional, Coutton, Charles, additional, Delobel, Bruno, additional, Descharmes, Margaux, additional, Dupont, Jean‐Michel, additional, Gatinois, Vincent, additional, Gruchy, Nicolas, additional, Guterman, Sarah, additional, Heddar, Abdelkader, additional, Herissant, Lucas, additional, Heron, Delphine, additional, Isidor, Bertrand, additional, Jaeger, Pauline, additional, Jouret, Guillaume, additional, Keren, Boris, additional, Kuentz, Paul, additional, Le Caignec, Cedric, additional, Levy, Jonathan, additional, Lopez, Nathalie, additional, Manssens, Zoe, additional, Martin‐Coignard, Dominique, additional, Marey, Isabelle, additional, Mignot, Cyril, additional, Missirian, Chantal, additional, Pebrel‐Richard, Céline, additional, Pinson, Lucile, additional, Puechberty, Jacques, additional, Redon, Sylvia, additional, Sanlaville, Damien, additional, Spodenkiewicz, Marta, additional, Tabet, Anne‐Claude, additional, Verloes, Alain, additional, Vieville, Gaelle, additional, Yardin, Catherine, additional, Vialard, François, additional, and Doco‐Fenzy, Martine, additional
Published: 2022
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44. Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome

Author: Jouret, Guillaume, primary, Egloff, Matthieu, additional, Landais, Emilie, additional, Tassy, Olivier, additional, Giuliano, Fabienne, additional, Karmous‐Benailly, Houda, additional, Coutton, Charles, additional, Satre, Véronique, additional, Devillard, Françoise, additional, Dieterich, Klaus, additional, Vieville, Gaëlle, additional, Kuentz, Paul, additional, le Caignec, Cédric, additional, Beneteau, Claire, additional, Isidor, Bertrand, additional, Nizon, Mathilde, additional, Callier, Patrick, additional, Marquet, Valentine, additional, Bieth, Eric, additional, Lévy, Jonathan, additional, Tabet, Anne‐Claude, additional, Lyonnet, Stanislas, additional, Baujat, Geneviève, additional, Rio, Marlène, additional, Cartault, François, additional, Scheidecker, Sophie, additional, Gouronc, Aurélie, additional, Schalk, Audrey, additional, Jacquin, Clémence, additional, Spodenkiewicz, Marta, additional, Angélini, Chloé, additional, Pennamen, Perrine, additional, Rooryck, Caroline, additional, Doco‐Fenzy, Martine, additional, and Poirsier, Céline, additional
Published: 2022
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45. Evidence for high breakpoint variability in 46, XX, SRY‐positive testicular disorder and frequent ARSE deletion that may be associated with short stature

Author: Capron, Céline, primary, Januel, Louis, additional, Vieville, Gaëlle, additional, Jaillard, Sylvie, additional, Kuentz, Paul, additional, Salaun, Gaëlle, additional, Nadeau, Gwenaël, additional, Clement, Patrice, additional, Brechard, Marie Pierre, additional, Herve, Bérénice, additional, Dupont, Jean Michel, additional, Gruchy, Nicolas, additional, Chambon, Pascal, additional, Abdelhedi, Fatma, additional, Dahlen, Eric, additional, Vago, Philippe, additional, Harbuz, Radu, additional, Plotton, Ingrid, additional, Coutton, Charles, additional, Belaud‐Rotureau, Marc‐Antoine, additional, Schluth‐Bolard, Caroline, additional, and Vialard, François, additional
Published: 2022
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46. Double inversion paracentrique parentale du même bras chromosomique à l’origine de chromosomes recombinants monocentriques atypiques : apport de la cartographie optique

Author: Kuentz, Paul, primary, Vitobello, Antonio, additional, Keren, Boris, additional, Schluth-Bolard, Caroline, additional, Sanlaville, Damien, additional, Rossi, Massimiliano, additional, Mosca, Anne-Laure, additional, Marle, Nathalie, additional, Thauvin-Robinet, Christel, additional, and Faivre, Laurence, additional
Published: 2022
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47. Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

Author: Vabres, Pierre, Sorlin, Arthur, Kholmanskikh, Stanislav S., Demeer, Bénédicte, St-Onge, Judith, Duffourd, Yannis, Kuentz, Paul, Courcet, Jean-Benoît, Carmignac, Virginie, Garret, Philippine, Bessis, Didier, Boute, Odile, Bron, Alain, Captier, Guillaume, Carmi, Esther, Devauchelle, Bernard, Geneviève, David, Gondry-Jouet, Catherine, Guibaud, Laurent, Lafon, Arnaud, Mathieu-Dramard, Michèle, Thevenon, Julien, Dobyns, William B., Bernard, Geneviève, Polubothu, Satyamaanasa, Faravelli, Francesca, Kinsler, Veronica A., Thauvin, Christel, Faivre, Laurence, Ross, M. Elizabeth, and Rivière, Jean-Baptiste
Published: 2019
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48. A standard of care for individuals with PIK3CA-related disorders:An international expert consensus statement

Author: Douzgou, Sofia, Rawson, Myfanwy, Baselga, Eulalia, Danielpour, Moise, Faivre, Laurence, Kashanian, Alon, Keppler-Noreuil, Kim M., Kuentz, Paul, Mancini, Grazia M.S., Maniere, Marie Cecile, Martinez-Glez, Victor, Parker, Victoria E., Semple, Robert K., Srivastava, Siddharth, Vabres, Pierre, De Wit, Marie Claire Y., Graham, John M., Clayton-Smith, Jill, Mirzaa, Ghayda M., Biesecker, Leslie G., Douzgou, Sofia, Rawson, Myfanwy, Baselga, Eulalia, Danielpour, Moise, Faivre, Laurence, Kashanian, Alon, Keppler-Noreuil, Kim M., Kuentz, Paul, Mancini, Grazia M.S., Maniere, Marie Cecile, Martinez-Glez, Victor, Parker, Victoria E., Semple, Robert K., Srivastava, Siddharth, Vabres, Pierre, De Wit, Marie Claire Y., Graham, John M., Clayton-Smith, Jill, Mirzaa, Ghayda M., and Biesecker, Leslie G.
Abstract: Growth promoting variants in PIK3CA cause a spectrum of developmental disorders, depending on the developmental timing of the mutation and tissues involved. These phenotypically heterogeneous entities have been grouped as PIK3CA-Related Overgrowth Spectrum disorders (PROS). Deep sequencing technologies have facilitated detection of low-level mosaic, often necessitating testing of tissues other than blood. Since clinical management practices vary considerably among healthcare professionals and services across different countries, a consensus on management guidelines is needed. Clinical heterogeneity within this spectrum leads to challenges in establishing management recommendations, which must be based on patient-specific considerations. Moreover, as most of these conditions are rare, affected families may lack access to the medical expertise that is needed to help address the multi-system and often complex medical issues seen with PROS. In March 2019, macrocephaly-capillary malformation (M-CM) patient organizations hosted an expert meeting in Manchester, United Kingdom, to help address these challenges with regards to M-CM syndrome. We have expanded the scope of this project to cover PROS and developed this consensus statement on the preferred approach for managing affected individuals based on our current knowledge.
Published: 2022

49. The risk of COVID-19 death is much greater and age-dependent with type I IFN autoantibodies

Author: Manry, Jérémy, Bastard, Paul, Gervais, Adrian, Le Voyer, Tom, Rosain, Jérémie, Philippot, Quentin, Michailidis, Eleftherios, Hoffmann, Hans-Heinrich, Eto, Shohei, Garcia-Prat, Marina, Bizien, Lucy, Parra-Martínez, Alba, Yang, Rui, Haljasmägi, Liis, Migaud, Mélanie, Särekannu, Karita, Maslovskaja, Julia, de Prost, Nicolas, Tandjaoui-Lambiotte, Yacine, Luyt, Charles-Edouard, Amador-Borrero, Blanca, Gaudet, Alexandre, Poissy, Julien, Morel, Pascal, Richard, Pascale, Cognasse, Fabrice, Troya, Jesús, Trouillet-Assant, Sophie, Belot, Alexandre, Saker, Kahina, Garçon, Pierre, Rivière, Jacques, Lagier, Jean-Christophe, Gentile, Stéphanie, Rosen, Lindsey, Shaw, Elana, Morio, Tomohiro, Tanaka, Junko, Dalmau, David, Tharaux, Pierre-Louis, Sene, Damien, Stepanian, Alain, Mégarbane, Bruno, Triantafyllia, Vasiliki, Fekkar, Arnaud, Heath, James, Franco, José Luis, Anaya, Juan-Manuel, Solé-Violán, Jordi, Imberti, Luisa, Biondi, Andrea, Bonfanti, Paolo, Castagnoli, Riccardo, Delmonte, Ottavia, Zhang, Yu, Snow, Andrew, Holland, Steven, Biggs, Catherine, Moncada-Vélez, Marcela, Arias, Andrés Augusto, Lorenzo, Lazaro, Boucherit, Soraya, Anglicheau, Dany, Planas, Anna, Haerynck, Filomeen, Duvlis, Sotirija, Ozcelik, Tayfun, Keles, Sevgi, Bousfiha, Ahmed, El Bakkouri, Jalila, Ramirez-Santana, Carolina, Paul, Stéphane, Pan-Hammarström, Qiang, Hammarström, Lennart, Dupont, Annabelle, Kurolap, Alina, Metz, Christine, Aiuti, Alessandro, Casari, Giorgio, Lampasona, Vito, Ciceri, Fabio, Barreiros, Lucila, Dominguez-Garrido, Elena, Vidigal, Mateus, Zatz, Mayana, van de Beek, Diederik, Sahanic, Sabina, Tancevski, Ivan, Stepanovskyy, Yurii, Boyarchuk, Oksana, Nukui, Yoko, Tsumura, Miyuki, Vidaur, Loreto, Tangye, Stuart, Burrel, Sonia, Duffy, Darragh, Quintana-Murci, Lluis, Klocperk, Adam, Kann, Nelli, Shcherbina, Anna, Lau, Yu-Lung, Leung, Daniel, Coulongeat, Matthieu, Marlet, Julien, Koning, Rutger, Reyes, Luis Felipe, Chauvineau-Grenier, Angélique, Venet, Fabienne, Monneret, Guillaume, Nussenzweig, Michel, Arrestier, Romain, Boudhabhay, Idris, Baris-Feldman, Hagit, Hagin, David, Wauters, Joost, Meyts, Isabelle, Dyer, Adam, Kennelly, Sean, Bourke, Nollaig, Halwani, Rabih, Sharif-Askari, Fatemeh Saheb, Dorgham, Karim, Sallette, Jérôme, Sedkaoui, Souad Mehlal, Alkhater, Suzan, Rigo-Bonnin, Raúl, Morandeira, Francisco, Roussel, Lucie, Vinh, Donald, Erikstrup, Christian, Condino-Neto, Antonio, Prando, Carolina, Bondarenko, Anastasiia, Spaan, András, Gilardin, Laurent, Fellay, Jacques, Lyonnet, Stanislas, Bilguvar, Kaya, Lifton, Richard, Mane, Shrikant, Anderson, Mark, Boisson, Bertrand, Béziat, Vivien, Zhang, Shen-Ying, Andreakos, Evangelos, Hermine, Olivier, Pujol, Aurora, Peterson, Pärt, Mogensen, Trine, Rowen, Lee, Mond, James, Debette, Stéphanie, de Lamballerie, Xavier, Burdet, Charles, Bouadma, Lila, Zins, Marie, Soler-Palacin, Pere, Colobran, Roger, Gorochov, Guy, Solanich, Xavier, Susen, Sophie, Martinez-Picado, Javier, Raoult, Didier, Vasse, Marc, Gregersen, Peter, Piemonti, Lorenzo, Rodríguez-Gallego, Carlos, Notarangelo, Luigi, Su, Helen, Kisand, Kai, Okada, Satoshi, Puel, Anne, Jouanguy, Emmanuelle, Rice, Charles, Tiberghien, Pierre, Zhang, Qian, Casanova, Jean-Laurent, Abel, Laurent, Cobat, Aurélie, Zhang, Peng, Seeleuthner, Yoann, Talouarn, Estelle, Marchal, Astrid, Matuozzo, Daniela, de la Chapelle, Aliénor, Chen, Jie, Chrabieh, Maya, Liu, Dana, Nemirowskaya, Yelena, Cruz, Inés Marín, Materna, Marie, Pelet, Sophie, Thibault, Chloé, Liu, Zhiyong, Abad, Jorge, Accordino, Giulia, Achille, Cristian, Aguilera-Albesa, Sergio, Aguiló-Cucurull, Aina, Özkan, Esra Akyüz, Darazam, Ilad Alavi, Albisures, Jonathan Antonio Roblero, Aldave, Juan, Ramos, Miquel Alfonso, Khan, Taj Ali, Aliberti, Anna, Nadji, Seyed Alireza, Alkan, Gulsum, Allardet-Servent, Jerome, Allende, Luis, Alonso-Arias, Rebeca, Alshahrani, Mohammed, Alsina, Laia, Alyanakian, Marie-Alexandra, Borrero, Blanca Amador, Amoura, Zahir, Antolí, Arnau, Aubart, Mélodie, Auguet, Teresa, Avramenko, Iryna, Aytekin, Gökhan, Azot, Axelle, Bahram, Seiamak, Bajolle, Fanny, Baldanti, Fausto, Baldolli, Aurélie, Ballester, Maite, Feldman, Hagit Baris, Barrou, Benoit, Barzaghi, Federica, Basso, Sabrina, Bayhan, Gulsum Iclal, Bezrodnik, Liliana, Bilbao, Agurtzane, Blanchard-Rohner, Geraldine, Blanco, Ignacio, Blandinières, Adeline, Blázquez-Gamero, Daniel, Bleibtreu, Alexandre, Bloomfield, Marketa, Bolivar-Prados, Mireia, Borghesi, Alessandro, Borie, Raphael, Botdhlo-Nevers, Elisabeth, Bousquet, Aurore, Boutolleau, David, Bouvattier, Claire, Bravais, Juliette, Briones, M. Luisa, Brunner, Marie-Eve, Bruno, Raffaele, Bueno, Maria Rita P., Bukhari, Huda, Bustamante, Jacinta, Agra, Juan José Cáceres, Capra, Ruggero, Carapito, Raphael, Carrabba, Maria, Casasnovas, Carlos, Caseris, Marion, Cassaniti, Irene, Castelle, Martin, Castelli, Francesco, de Vera, Martín Castillo, Castro, Mateus, Catherinot, Emilie, Celik, Jale Bengi, Ceschi, Alessandro, Chalumeau, Martin, Charbit, Bruno, Cheng, Matthew, Clavé, Pere, Clotet, Bonaventura, Codina, Anna, Cohen, Yves, Comarmond, Cloé, Combes, Alain, Comoli, Patrizia, Corsico, Angelo, Coşkuner, Taner, Cvetkovski, Aleksandar, Cyrus, Cyril, Danion, François, Darley, David Ross, Das, Vincent, Dauby, Nicolas, Dauger, Stéphane, de Munter, Paul, de Pontual, Loic, Dehban, Amin, Delplancq, Geoffroy, Demoule, Alexandre, Desguerre, Isabelle, Di Sabatino, Antonio, Diehl, Jean-Luc, Dobbelaere, Stephanie, Domínguez-Garrido, Elena, Dubost, Clément, Ekwall, Olov, Bozdemir, Şefika Elmas, Elnagdy, Marwa, Emiroglu, Melike, Endo, Akifumi, Erdeniz, Emine Hafize, Aytekin, Selma Erol, Lasa, Maria Pilar Etxart, Euvrard, Romain, Fabio, Giovanna, Faivre, Laurence, Falck, Antonin, Fartoukh, Muriel, Faure, Morgane, Arquero, Miguel Fernandez, Ferrer, Ricard, Ferreres, Jose, Flores, Carlos, Francois, Bruno, Fumadó, Victoria, Fung, Kitty, Fusco, Francesca, Gagro, Alenka, Solis, Blanca Garcia, Gaussem, Pascale, Gayretli, Zeynep, Gil-Herrera, Juana, Gatineau, Audrey Giraud, Girona-Alarcón, Mònica, Godínez, Karen Alejandra Cifuentes, Goffard, Jean-Christophe, Gonzales, Nacho, Gonzalez-Granado, Luis, González-Montelongo, Rafaela, Guerder, Antoine, Gülhan, Belgin, Gumucio, Victor Daniel, Hanitsch, Leif Gunnar, Gunst, Jan, Gut, Marta, Hadjadj, Jérôme, Hancerli, Selda, Hariyan, Tetyana, Hatipoglu, Nevin, Heppekcan, Deniz, Hernandez-Brito, Elisa, Ho, Po-Ki, Holanda-Peña, María Soledad, Horcajada, Juan, Hraiech, Sami, Humbert, Linda, Hung, Ivan, Iglesias, Alejandro, Íñigo-Campos, Antonio, Jamme, Matthieu, Arranz, María Jesús, Jimeno, Marie-Thérèse, Jordan, Iolanda, Kanık-Yüksek, Saliha, Kara, Yalcin Burak, Karahan, Aydın, Karbuz, Adem, Yasar, Kadriye Kart, Kasapcopur, Ozgur, Kashimada, Kenichi, Demirkol, Yasemin Kendir, Kido, Yasutoshi, Kizil, Can, Kılıç, Ahmet Osman, Daganou, Maria, Koukaki, Evangelia, Koutsoukou, Antonia, Rapti, Vasiliki, Syrigos, Konstantinos, Król, Zbigniew, Ksouri, Hatem, Kuentz, Paul, Kwan, Arthur, Kwan, Yat Wah M., Kwok, Janette, Lam, David, Conti, Francesca, Pession, Andrea, Lampropoulou, Vicky, Lanternier, Fanny, Bourgeois, Fleur Le, Leo, Yee-Sin, Lopez, Rafael Leon, Levin, Michael, Levy, Michael, Lévy, Romain, Li, Zhi, Lilleri, Daniele, Lima, Edson Jose Adrian Bolanos, Linglart, Agnes, López-Collazo, Eduardo, Lorenzo-Salazar, José, Louapre, Céline, Lubetzki, Catherine, Lung, Kwok-Cheung, Lye, David, Magnone, Cinthia, Mansouri, Davood, Marchioni, Enrico, Marioli, Carola, Marjani, Majid, Marques, Laura, Pereira, Jesus Marquez, Martín-Nalda, Andrea, Pueyo, David Martínez, Marzana, Iciar, Mata-Martínez, Carmen, Mathian, Alexis, Matos, Larissa Rb, Matthews, Gail, Mayaux, Julien, Mclaughlin-Garcia, Raquel, Meersseman, Philippe, Mège, Jean-Louis, Mekontso-Dessap, Armand, Melki, Isabelle, Meloni, Federica, Meritet, Jean-François, Merlani, Paolo, Akcan, Özge Metin, Mezidi, Mehdi, Migeotte, Isabelle, Millereux, Maude, Million, Matthieu, Mirault, Tristan, Mircher, Clotilde, Mirsaeidi, Mehdi, Mizoguchi, Yoko, Modi, Bhavi, Mojoli, Francesco, Moncomble, Elsa, Melián, Abián Montesdeoca, Martinez, Antonio Morales, Morange, Pierre-Emmanuel, Mordacq, Clémence, Morelle, Guillaume, Mouly, Stéphane, Muñoz-Barrera, Adrián, Nafati, Cyril, Nagashima, Shintaro, Nakagama, Yu, Neven, Bénédicte, Neves, João Farela, Ng, Lisa, Ng, Yuk-Yung, Nielly, Hubert, Medina, Yeray Novoa, Cuadros, Esmeralda Nuñez, Ocejo-Vinyals, J. Gonzalo, Okamoto, Keisuke, Oualha, Mehdi, Ouedrani, Amani, Özçelik, Tayfun, Ozkaya-Parlakay, Aslinur, Pagani, Michele, Papadaki, Maria, Parizot, Christophe, Parola, Philippe, Pascreau, Tiffany, Paz-Artal, Estela, Pedraza-Sánchez, Sigifredo, Gálvez-Romero, José Luis, Pellecer, Nancy Carolina González, Pellegrini, Silvia, Diego, Rebeca Pérez De, Pérez-Fernández, Xosé Luis, Philippe, Aurélien, Picod, Adrien, de Chambrun, Marc Pineton, Piralla, Antonio, Planas-Serra, Laura, Ploin, Dominique, Poncelet, Géraldine, Poulakou, Garyphallia, Pouletty, Marie, Pourshahnazari, Persia, Qiu-Chen, Jia Li, Quentric, Paul, Rambaud, Thomas, Raoult, Violette, Rebillat, Anne-Sophie, Redin, Claire, Resmini, Léa, Ricart, Pilar, Richard, Jean-Christophe, Rivet, Nadia, Rocamora-Blanch, Gemma, Rodero, Mathieu, Rodrigo, Carlos, Rodriguez, Luis Antonio, Rodriguez-Gallego, Carlos, Rodriguez-Palmero, Agustí, Romero, Carolina Soledad, Rothenbuhler, Anya, Roux, Damien, Rovina, Nikoletta, Rozenberg, Flore, Ruch, Yvon, Ruiz, Montse, Prado, Maria Yolanda Ruiz Del, Ruiz-Rodriguez, Juan Carlos, Sabater-Riera, Joan, Saks, Kai, Salagianni, Maria, Sanchez, Oliver, Sánchez-Montalvá, Adrián, Sánchez-Ramón, Silvia, Schidlowski, Laire, Schluter, Agatha, Schmidt, Julien, Schmidt, Matthieu, Schuetz, Catharina, Schweitzer, Cyril, Scolari, Francesco, Sediva, Anna, Seijo, Luis, Seminario, Analia Gisela, Seng, Piseth, Senoglu, Sevtap, Seppänen, Mikko, Llovich, Alex Serra, Shahrooei, Mohammad, Siguret, Virginie, Siouti, Eleni, Smadja, David, Smith, Nikaia, Sobh, Ali, Soler, Catherine, Soler-Palacín, Pere, Sözeri, Betül, Stella, Giulia Maria, Stepanovskiy, Yuriy, Stoclin, Annabelle, Taccone, Fabio, Taupin, Jean-Luc, Tavernier, Simon, Terrier, Benjamin, Thiery, Guillaume, Thorball, Christian, Thorn, Karolina, Thumerelle, Caroline, Tipu, Imran, Tolstrup, Martin, Tomasoni, Gabriele, Toubiana, Julie, Alvarez, Josep Trenado, Tsang, Owen, Tserel, Liina, Tso, Eugene, Tucci, Alessandra, Öz, Şadiye Kübra Tüter, Ursini, Matilde Valeria, Utsumi, Takanori, Uzunhan, Yurdagul, Vabres, Pierre, Valencia-Ramos, Juan, van den Rym, Ana Maria, Vandernoot, Isabelle, Velez-Santamaria, Valentina, Veliz, Silvia Patricia Zuniga, Viel, Sébastien, Villain, Cédric, Vilaire-Meunier, Marie, Villar-García, Judit, Vincent, Audrey, Vogt, Guillaume, Voiriot, Guillaume, Volokha, Alla, Vuotto, Fanny, Wauters, Els, Wu, Alan, Wu, Tak-Chiu, Yahşi, Aysun, Yesilbas, Osman, Yildiz, Mehmet, Young, Barnaby, Yükselmiş, Ufuk, Ghirardello, Stefano, Zuccaro, Valentina, Andrés, Ana De, van Praet, Jens, Lambrecht, Bart, van Braeckel, Eva, Bosteels, Cédric, Hoste, Levi, Hoste, Eric, Bauters, Fré, Clercq, Jozefien De, Heijmans, Cathérine, Slabbynck, Hans, Naesens, Leslie, Florkin, Benoit, Boulanger, Cécile, Vanderlinden, Dimitri, Foti, Giuseppe, Bellani, Giacomo, Citerio, Giuseppe, Contro, Ernesto, Pesci, Alberto, Valsecchi, Maria Grazia, Cazzaniga, Marina, Danielson, Jeffrey, Dobbs, Kerry, Kashyap, Anuj, Ding, Li, Dalgard, Clifton, Sottini, Alessandra, Quaresima, Virginia, Quiros-Roldan, Eugenia, Rossi, Camillo, Bettini, Laura Rachele, D’angio, Mariella, Beretta, Ilaria, Montagna, Daniela, Licari, Amelia, Marseglia, Gian Luigi, Batten, Isabella, Reddy, Conor, Mcelheron, Matt, Noonan, Claire, Connolly, Emma, Fallon, Aoife, Storgaard, Merete, Jørgensen, Sofie, Pedersen, Ole Birger, Sørensen, Erik, Mikkelsen, Susan, Dinh, Khoa Manh, Larsen, Margit Anita Hørup, Paulsen, Isabella Worlewenut, von Stemann, Jakob Hjorth, Hansen, Morten Bagge, Ostrowski, Sisse Rye, Townsend, Liam, Ni Cheallaigh, Cliona, Bergin, Colm, Martin-Loeches, Ignacio, Dunne, Jean, Conlon, Niall, O’farrelly, Cliona, Allavena, Clotilde, Andrejak, Claire, Angoulvant, François, Azoulay, Cecile, Bachelet, Delphine, Bartoli, Marie, Basmaci, Romain, Behillill, Sylvie, Beluze, Marine, Benech, Nicolas, Benkerrou, Dehbia, Bhavsar, Krishna, Bitker, Laurent, Bouscambert-Duchamp, Maude, Paz, Pauline Caraux, Cervantes-Gonzalez, Minerva, Chair, Anissa, Chirouze, Catherine, Coelho, Alexandra, Cordel, Hugues, Couffignal, Camille, Couffin-Cadiergues, Sandrine, D’ortenzio, Eric, de Montmollin, Etienne, Debard, Alexa, Debray, Marie-Pierre, Deplanque, Dominique, Descamps, Diane, Desvallée, Mathilde, Diallo, Alpha, Diouf, Alphonsine, Dorival, Céline, Dubos, François, Duval, Xavier, Eloy, Philippine, Enouf, Vincent, Epaulard, Olivier, Esperou, Hélène, Esposito-Farase, Marina, Etienne, Manuel, Garot, Denis, Gault, Nathalie, Gaymard, Alexandre, Ghosn, Jade, Gigante, Tristan, Gilg, Morgane, Goehringer, François, Guedj, Jérémie, Hoctin, Alexandre, Hoffmann, Isabelle, Houas, Ikram, Hulot, Jean-Sébastien, Jaafoura, Salma, Kafif, Ouifiya, Kaguelidou, Florentia, Kali, Sabrina, Kerroumi, Younes, Khalil, Antoine, Khan, Coralie, Kimmoun, Antoine, Laine, Fabrice, Laouénan, Cédric, Laribi, Samira, Le, Minh, Le Bris, Cyril, Le Gac, Sylvie, Le Hingrat, Quentin, Le Mestre, Soizic, Le Nagard, Hervé, Lemaignen, Adrien, Lemee, Véronique, Lescure, François-Xavier, Letrou, Sophie, Levy, Yves, Lina, Bruno, Lingas, Guillaume, Lucet, Jean Christophe, Machado, Moïse, Malvy, Denis, Mambert, Marina, Manuel, Aldric, Mentré, France, Meziane, Amina, Mouquet, Hugo, Mullaert, Jimmy, Neant, Nadège, Nguyen, Duc, Noret, Marion, Papadopoulos, Aurélie, Paul, Christelle, Peiffer-Smadja, Nathan, Peigne, Vincent, Petrov-Sanchez, Ventzislava, Peytavin, Gilles, Pham, Huong, Picone, Olivier, Piquard, Valentine, Puéchal, Oriane, Rosa-Calatrava, Manuel, Rossignol, Bénédicte, Rossignol, Patrick, Roy, Carine, Schneider, Marion, Su, Richa, Tardivon, Coralie, Tellier, Marie-Capucine, Téoulé, François, Terrier, Olivier, Timsit, Jean-François, Tual, Christelle, Tubiana, Sarah, van der Werf, Sylvie, Vanel, Noémie, Veislinger, Aurélie, Visseaux, Benoit, Wiedemann, Aurélie, Yazdanpanah, Yazdan, Annereau, Jean-Philippe, Briseño-Roa, Luis, Gribouval, Olivier, Jaïs, Jean-Philippe, Pelet, Anna, Alcover, Andres, Aschard, Hugues, Bousso, Philippe, Brodin, Petter, Bruhns, Pierre, Cerf-Bensussan, Nadine, Cumano, Ana, D’enfert, Christophe, Deriano, Ludovic, Dillies, Marie-Agnès, Di Santo, James, Dromer, Françoise, Eberl, Gérard, Enninga, Jost, Gomperts-Boneca, Ivo, Hasan, Milena, Hedestam, Gunilla Karlsson, Hercberg, Serge, Ingersoll, Molly, Lantz, Olivier, Kenny, Rose Anne, Ménager, Mickaël, Michel, Frédérique, Patin, Etienne, Pellegrini, Sandra, Rausell, Antonio, Rieux-Laucat, Frédéric, Rogge, Lars, Fontes, Magnus, Sakuntabhai, Anavaj, Schwartz, Olivier, Schwikowski, Benno, Shorte, Spencer, Tangy, Frédéric, Toubert, Antoine, Touvier, Mathilde, Ungeheuer, Marie-Noëlle, Zimmer, Christophe, Albert, Matthew, Alavoine, Loubna, Behillil, Sylvie, Charpentier, Charlotte, Dechanet, Aline, Ecobichon, Jean-Luc, Frezouls, Wahiba, Houhou, Nadhira, Lehacaut, Jonathan, Lucet, Jean-Christophe, Manchon, Pauline, Nouroudine, Mariama, Quintin, Caroline, Thy, Michael, Vignali, Valérie, Chahine, Abir, Waucquier, Nawal, Migaud, Maria-Claire, Djossou, Félix, Mergeay-Fabre, Mayka, Lucarelli, Aude, Demar, Magalie, Bruneau, Léa, Gérardin, Patrick, Maillot, Adrien, Payet, Christine, Laviolle, Bruno, Paris, Christophe, Desille-Dugast, Mireille, Fouchard, Julie, Pistone, Thierry, Perreau, Pauline, Gissot, Valérie, Le Goas, Carole, Montagne, Samatha, Richard, Lucie, Bouiller, Kévin, Desmarets, Maxime, Meunier, Alexandre, Bourgeon, Marilou, Lefèvre, Benjamin, Jeulin, Hélène, Legrand, Karine, Lomazzi, Sandra, Tardy, Bernard, Gagneux-Brunon, Amandine, Bertholon, Frédérique, Botelho-Nevers, Elisabeth, Kouakam, Christelle, Leturque, Nicolas, Roufai, Layidé, Amat, Karine, Espérou, Hélène, Hendou, Samia, van Agtmael, Michiel, Algera, Anne Geke, Appelman, Brent, van Baarle, Frank, Bax, Diane, Beudel, Martijn, Bogaard, Harm Jan, Bomers, Marije, Bonta, Peter, Bos, Lieuwe, Botta, Michela, de Brabander, Justin, de Bree, Godelieve, de Bruin, Sanne, Buis, David, Bugiani, Marianna, Bulle, Esther, Chouchane, Osoul, Cloherty, Alex, Dijkstra, Mirjam, Dongelmans, Dave, Dujardin, Romein, Elbers, Paul, Fleuren, Lucas, Geerlings, Suzanne, Geijtenbeek, Theo, Girbes, Armand, Goorhuis, Bram, Grobusch, Martin, Hafkamp, Florianne, Hagens, Laura, Hamann, Jorg, Harris, Vanessa, Hemke, Robert, Hermans, Sabine, Heunks, Leo, Hollmann, Markus, Horn, Janneke, Hovius, Joppe, de Jong, Menno, Lim, Endry, van Mourik, Niels, Nellen, Jeaninne, Nossent, Esther, Paulus, Frederique, Peters, Edgar, Pina-Fuentes, Dan, van der Poll, Tom, Preckel, Bennedikt, Prins, Jan, Raasveld, Jorinde, Reijnders, Tom, de Rotte, Maurits, Schinkel, Michiel, Schultz, Marcus, Schrauwen, Femke, Schuurman, Alex, Schuurmans, Jaap, Sigaloff, Kim, Slim, Marleen, Smeele, Patrick, Smit, Marry, Stijnis, Cornelis, Stilma, Willemke, Teunissen, Charlotte, Thoral, Patrick, Tsonas, Anissa, Tuinman, Pieter, van der Valk, Marc, Veelo, Denise, Volleman, Carolien, de Vries, Heder, Vught, Lonneke, van Vugt, Michèle, Wouters, Dorien, Zwinderman, A., Brouwer, Matthijs, Wiersinga, W. Joost, Vlaar, Alexander, Al-Muhsen, Saleh, Al-Mulla, Fahd, Arias, Andrés, Bogunovic, Dusan, Bolze, Alexandre, Bryceson, Yenan, Bustamante, Carlos, Butte, Manish, Chakravorty, Samya, Christodoulou, John, Constantinescu, Stefan, Cooper, Megan, Desai, Murkesh, Drolet, Beth, El Baghdadi, Jamila, Espinosa-Padilla, Sara, Froidure, Antoine, Henrickson, Sarah, Hsieh, Elena, Husebye, Eystein, Imai, Kohsuke, Itan, Yuval, Jarvis, Erich, Karamitros, Timokratis, Ku, Cheng-Lung, Ling, Yun, Lucas, Carrie, Maniatis, Tom, Maródi, László, Milner, Joshua, Mironska, Kristina, Novelli, Antonio, Novelli, Giuseppe, de Diego, Rebeca Perez, Perez-Tur, Jordi, Arkin, Lisa, Asano, Takaki, Oriol, Roger Colobran, Renia, Laurent, Resnick, Igor, Sancho-Shimizu, Vanessa, Seppänen, Mikko R.J., Shahrooei, Mohammed, Slaby, Ondrej, Tayoun, Ahmad Abou, Ramaswamy, Sathishkumar, Turvey, Stuart, Uddin, K., Uddin, Mohammed, von Bernuth, Horst, Zawadzki, Pawel, Grimbacher, Bodo, Pape, Jean, Perlin, David, Pesole, Graziano, García, Paula Andrea Gaviria, López, Gustavo Andrés Salguero, Rojas-Villaraga, Adriana, Vélez, Verónica Posada, Landinez, Lina Marcela Acevedo, Correales, Luisa Paola Duarte, Gómez, Oscar, Guaqueta, Jeser Santiago Grass, Pérez, Cristian Alejandro Ricaurte, Carrillo, Jorge, Vergara, José Alejandro Daza, Landinez, Sandra, Mantilla, Rubén, Yepes, Jairo David Torres, Ricaurte, Oscar Andrés Briceño, Pérez-Díaz, Carlos, Mateus, Yady Nataly, Navarro, Laura Mancera, Rodríguez, Yhojan, Acosta-Ampudia, Yeny, Monsalve, Diana, Rojas, Manuel, Nadif, Rachel, Goldberg, Marcel, Ozguler, Anna, Henny, Joseph, Lemonnier, Sylvie, Coeuret-Pellicer, Mireille, Got, Stéphane Le, Tzourio, Christophe, Dufouil, Carole, Soumaré, Aïcha, Lachaize, Morgane, Fievet, Nathalie, Flaig, Amandine, Martin, Fernando, Bonneaudeau, Brigitte, Cannet, Dorothée, Gallian, Pierre, Jeanne, Michel, Perroquin, Magali, Hamzeh-Cognasse, Hind, Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Rockefeller University [New York], Hiroshima University, Vall d’Hebron Research Institute (VHIR), University of Tartu, CHU Henri Mondor, Hôpital Avicenne [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut de cardiologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Lariboisière-Fernand-Widal [APHP], Centre d’Infection et d’Immunité de Lille - INSERM U 1019 - UMR 9017 - UMR 8204 (CIIL), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Centre National de la Recherche Scientifique (CNRS), Etablissement Français du Sang [La Plaine Saint-Denis] (EFS), Etablissement français du sang - Auvergne-Rhône-Alpes (EFS), Hospital Universitario Infanta Leonor [Madrid], Hospices Civils de Lyon (HCL), Grand Hôpital de l'Est Francilien (GHEF), Vall d'Hebron University Hospital [Barcelona], Institut Hospitalier Universitaire Méditerranée Infection (IHU Marseille), Assistance Publique - Hôpitaux de Marseille (APHM), National Institutes of Health [Bethesda] (NIH), Tokyo Medical and Dental University [Japan] (TMDU), Universitat de Barcelona (UB), Institut National de la Santé et de la Recherche Médicale (INSERM), Biomedical Research Foundation of the Academy of Athens (BRFAA), Institute for Systems Biology [Seattle] (ISB), Universidad de Antioquia = University of Antioquia [Medellín, Colombia], Universidad del Rosario [Bogota], Hospital Universitario de Gran Canaria Dr Negrin, Azienda Socio Sanitaria Territoriale Spedali Civili di Brescia [Brescia], Università degli Studi di Milano-Bicocca = University of Milano-Bicocca (UNIMIB), National Institute of Allergy and Infectious Diseases [Bethesda] (NIAID-NIH), Uniformed Services University of the Health Sciences (USUHS), University of British Columbia (UBC), CHU Necker - Enfants Malades [AP-HP], Spanish National Research Council (CSIC), Ghent University Hospital, Goce Delchev University (UGD), Invitae Corporation, Bilkent University [Ankara], Necmettin Erbakan University [Konya, Turquie], Centre Hospitalier Universitaire Hassan II (CHU HII), CHU Ibn Rochd [Casablanca], Centre International de Recherche en Infectiologie - UMR (CIRI), École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Karolinska Institute, Réseau International des Instituts Pasteur (RIIP), Tel Aviv Sourasky Medical Center [Te Aviv], The Feinstein Institute for Medical Research, IRCCS San Raffaele Scientific Institute [Milan, Italie], IRCCS Ospedale San Raffaele [Milan, Italy], Universidade de São Paulo = University of São Paulo (USP), Fundacion Rioja Salud, Amsterdam Neuroscience [Pays-Bas], Vrije Universiteit Amsterdam [Amsterdam] (VU)-University of Amsterdam [Amsterdam] (UvA)-VU University Medical Center [Amsterdam], Innsbruck Medical University = Medizinische Universität Innsbruck (IMU), Shupyk National Medical Academy of Postgraduate Education [Kiev] (SNMAPE), I.Horbachevsky Ternopil State Medical University, Ternopil, Ukraine, Hospital Donostia, Garvan Institute of medical research, Sorbonne Université (SU), Immunologie Translationnelle - Translational Immunology lab, Institut Pasteur [Paris] (IP)-Université Paris Cité (UPCité), Institut Pasteur [Paris] (IP), Charles University [Prague] (CU), University Hospital Motol [Prague], Dmitriy Rogachev National Center for Pediatric Hematology, Oncology and Immunology [Moscow, Russia], The University of Hong Kong (HKU), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Morphogénèse et antigénicité du VIH et du virus des Hépatites (MAVIVH - U1259 Inserm - CHRU Tours ), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), University of La Sabana = Universitad de la Sabana, Hôpital Robert Ballanger [Aulnay-sous-Bois], Sackler Faculty of Medicine, Tel Aviv University (TAU), Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), University Hospitals Leuven [Leuven], Tallaght Hospital, Trinity College Dublin, University of Sharjah (UoS), Centre d'Immunologie et des Maladies Infectieuses (CIMI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Laboratoire CERBA [Saint Ouen l'Aumône], King Fahad University, Institut d'Investigació Biomèdica de Bellvitge [Barcelone] (IDIBELL), McGill University = Université McGill [Montréal, Canada], Aarhus University [Aarhus], Instituto de Pesquisa Pelé Pequeno Principe, Hôpital Jean Verdier [AP-HP], Ecole Polytechnique Fédérale de Lausanne (EPFL), Yale University [New Haven], University of California [San Francisco] (UC San Francisco), University of California (UC), Academy of Athens, Institució Catalana de Recerca i Estudis Avançats (ICREA), Bordeaux population health (BPH), Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), Aix Marseille Université (AMU), Centre d'investigation Clinique [CHU Bichat] - Épidémiologie clinique (CIC 1425), AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM), CIC Hôpital Bichat, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-UFR de Médecine, Université Paris-Saclay, Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), European Genomic Institute for Diabetes - FR 3508 (EGID), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre National de la Recherche Scientifique (CNRS), IrsiCaixa (Institut de Recerca de la Sida), Hôpital Foch [Suresnes], Etablissement Français du Sang, EFS, Institut Necker Enfants-Malades (INEM - UM 111 (UMR 8253 / U1151)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Howard Hughes Medical Institute, Rockefeller University, St. Giles Foundation, National Institutes of Health (US), George Mason University, Yale University, National Human Genome Research Institute (US), Fisher Center for Alzheimer's Research Foundation, Meyer Foundation, JPB Foundation, Agence Nationale de la Recherche (France), Fondation pour la Recherche Médicale, Agence Nationale de Recherches sur le SIDA et les Hépatites Virales (France), Scientific Committee on Oceanic Research, Ministre de l'Enseignement Supérieur, de la Recherche et de l'Innovation (France), Institut National de la Santé et de la Recherche Médicale (France), Université de Paris, Fondation Bettencourt Schueller, Centro de Investigación Biomédica en Red Enfermedades Raras (España), European Commission, G. Harold & Leila Y. Mathers Foundation, Hospital Universitario Infanta Leonor, National Institute of Allergy and Infectious Diseases (US), National Institute of Dental and Craniofacial Research (US), Estonian Research Council, Al Jalila Foundation, American University of Sharjah, National Health and Medical Research Council (Australia), University of New South Wales (Australia), Regione Lombardia, Instituto de Salud Carlos III, Japan Agency for Medical Research and Development, Sorbonne Université, Université de Bordeaux, National Cancer Institute (US), Research Foundation - Flanders, Hellenic Foundation for Research and Innovation, Sao Paulo Research Foundation, The Meath Foundation, Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), INSERM UMRS-1144, Université Paris Cité, Réanimation Médicale et Toxicologique, Hôpital Lariboisière, Génétique Evolutive Humaine - Human Evolutionary Genetics, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), The Laboratory of Human Genetics of Infectious Diseases is supported by the Howard Hughes Medical Institute, The Rockefeller University, the St. Giles Foundation, the NIH (Grants R01AI088364 and R01AI163029), the National Center for Advancing Translational Sciences, NIH Clinical and Translational Science Awards program (Grant UL1 TR001866), a Fast Grant from Emergent Ventures, Mercatus Center at George Mason University, the Yale Center for Mendelian Genomics and the Genome Sequencing Program Coordinating Center funded by the National Human Genome Research Institute (Grants UM1HG006504 and U24HG008956), the Yale High Performance Computing Center (Grant S10OD018521), the Fisher Center for Alzheimer’s Research Foundation, the Meyer Foundation, the JPB Foundation, the French National Research Agency (ANR) under the 'Investments for the Future' program (Grant ANR-10-IAHU-01), the Integrative Biology of Emerging Infectious Diseases Laboratory of Excellence (Grant ANR-10-LABX-62-IBEID), the French Foundation for Medical Research (FRM) (Grant EQU201903007798), the French Agency for Research on AIDS and Viral hepatitis (ANRS) Nord-Sud (Grant ANRS-COV05), the ANR GENVIR (Grant ANR-20-CE93-003), AABIFNCOV (Grant ANR-20-CO11-0001), CNSVIRGEN (Grant ANR-19-CE15-0009-01), and GenMIS-C (Grant ANR-21-COVR-0039) projects, the Square Foundation, Grandir–Fonds de solidarité pour l’Enfance, the Fondation du Souffle, the SCOR Corporate Foundation for Science, The French Ministry of Higher Education, Research, and Innovation (Grant MESRI-COVID-19), Institut National de la Santé et de la Recherche Médicale (INSERM), REACTing-INSERM, and the University Paris Cité. P. Bastard was supported by the FRM (Award EA20170638020). P. Bastard., J.R., and T.L.V. were supported by the MD-PhD program of the Imagine Institute (with the support of Fondation Bettencourt Schueller). Work at the Neurometabolic Disease lab received funding from Centre for Biomedical Research on Rare Diseases (CIBERER) (Grant ACCI20-767) and the European Union's Horizon 2020 research and innovation program under grant agreement 824110 (EASI Genomics). Work in the Laboratory of Virology and Infectious Disease was supported by the NIH (Grants P01AI138398-S1, 2U19AI111825, and R01AI091707-10S1), a George Mason University Fast Grant, and the G. Harold and Leila Y. Mathers Charitable Foundation. The Infanta Leonor University Hospital supported the research of the Department of Internal Medicine and Allergology. The French COVID Cohort study group was sponsored by INSERM and supported by the REACTing consortium and by a grant from the French Ministry of Health (Grant PHRC 20-0424). The Cov-Contact Cohort was supported by the REACTing consortium, the French Ministry of Health, and the European Commission (Grant RECOVER WP 6). This work was also partly supported by the Intramural Research Program of the National Institute of Allergy and Infectious Diseases and the National Institute of Dental and Craniofacial Research, NIH (Grants ZIA AI001270 to L.D.N. and 1ZIAAI001265 to H.C.S.). This program is supported by the Agence Nationale de la Recherche (Grant ANR-10-LABX-69-01). K.K.’s group was supported by the Estonian Research Council, through Grants PRG117 and PRG377. R.H. was supported by an Al Jalila Foundation Seed Grant (Grant AJF202019), Dubai, United Arab Emirates, and a COVID-19 research grant (Grant CoV19-0307) from the University of Sharjah, United Arab Emirates. S.G.T. is supported by Investigator and Program Grants awarded by the National Health and Medical Research Council of Australia and a University of New South Wales COVID Rapid Response Initiative Grant. L.I. reports funding from Regione Lombardia, Italy (project 'Risposta immune in pazienti con COVID-19 e co-morbidità'). This research was partially supported by the Instituto de Salud Carlos III (Grant COV20/0968). J.R.H. reports funding from Biomedical Advanced Research and Development Authority (Grant HHSO10201600031C). S.O. reports funding from Research Program on Emerging and Re-emerging Infectious Diseases from Japan Agency for Medical Research and Development (Grant JP20fk0108531). G.G. was supported by the ANR Flash COVID-19 program and SARS-CoV-2 Program of the Faculty of Medicine from Sorbonne University iCOVID programs. The 3C Study was conducted under a partnership agreement between INSERM, Victor Segalen Bordeaux 2 University, and Sanofi-Aventis. The Fondation pour la Recherche Médicale funded the preparation and initiation of the study. The 3C Study was also supported by the Caisse Nationale d’Assurance Maladie des Travailleurs Salariés, Direction générale de la Santé, Mutuelle Générale de l’Education Nationale, Institut de la Longévité, Conseils Régionaux of Aquitaine and Bourgogne, Fondation de France, and Ministry of Research–INSERM Program 'Cohortes et collections de données biologiques.' S. Debette was supported by the University of Bordeaux Initiative of Excellence. P.K.G. reports funding from the National Cancer Institute, NIH, under Contract 75N91019D00024, Task Order 75N91021F00001. J.W. is supported by a Research Foundation - Flanders (FWO) Fundamental Clinical Mandate (Grant 1833317N). Sample processing at IrsiCaixa was possible thanks to the crowdfunding initiative YoMeCorono. Work at Vall d’Hebron was also partly supported by research funding from Instituto de Salud Carlos III Grant PI17/00660 cofinanced by the European Regional Development Fund (ERDF/FEDER). C.R.-G. and colleagues from the Canarian Health System Sequencing Hub were supported by the Instituto de Salud Carlos III (Grants COV20_01333 and COV20_01334), the Spanish Ministry for Science and Innovation (RTC-2017-6471-1, AEI/FEDER, European Union), Fundación DISA (Grants OA18/017 and OA20/024), and Cabildo Insular de Tenerife (Grants CGIEU0000219140 and 'Apuestas científicas del ITER para colaborar en la lucha contra la COVID-19'). T.H.M. was supported by grants from the Novo Nordisk Foundation (Grants NNF20OC0064890 and NNF21OC0067157). C.M.B. is supported by a Michael Smith Foundation for Health Research Health Professional-Investigator Award. P.Q.H. and L. Hammarström were funded by the European Union’s Horizon 2020 research and innovation program (Antibody Therapy Against Coronavirus consortium, Grant 101003650). Work at Y.-L.L.’s laboratory in the University of Hong Kong (HKU) was supported by the Society for the Relief of Disabled Children. MBBS/PhD study of D.L. in HKU was supported by the Croucher Foundation. J.L.F. was supported in part by the Evaluation-Orientation de la Coopération Scientifique (ECOS) Nord - Coopération Scientifique France-Colombie (ECOS-Nord/Columbian Administrative department of Science, Technology and Innovation [COLCIENCIAS]/Colombian Ministry of National Education [MEN]/Colombian Institute of Educational Credit and Technical Studies Abroad [ICETEX, Grant 806-2018] and Colciencias Contract 713-2016 [Code 111574455633]). A. Klocperk was, in part, supported by Grants NU20-05-00282 and NV18-05-00162 issued by the Czech Health Research Council and Ministry of Health, Czech Republic. L.P. was funded by Program Project COVID-19 OSR-UniSR and Ministero della Salute (Grant COVID-2020-12371617). I.M. is a Senior Clinical Investigator at the Research Foundation–Flanders and is supported by the CSL Behring Chair of Primary Immunodeficiencies (PID), by the Katholieke Universiteit Leuven C1 Grant C16/18/007, by a Flanders Institute for Biotechnology-Grand Challenges - PID grant, by the FWO Grants G0C8517N, G0B5120N, and G0E8420N, and by the Jeffrey Modell Foundation. I.M. has received funding under the European Union’s Horizon 2020 research and innovation program (Grant Agreement 948959). E.A. received funding from the Hellenic Foundation for Research and Innovation (Grant INTERFLU 1574). M. Vidigal received funding from the São Paulo Research Foundation (Grant 2020/09702-1) and JBS SA (Grant 69004). The NH-COVAIR study group consortium was supported by a grant from the Meath Foundation., HGID Lab, COVID Clinicians, COVID-STORM Clinicians, NIAID Immune Response to COVID Group, NH-COVAIR Study Group, Danish CHGE, Danish Blood Donor Study, St. James's Hospital, SARS CoV2 Interest Group, French COVID Cohort Study Group, Imagine COVID-Group, Milieu Intérieur Consortium, CoV-Contact Cohort, Amsterdam UMC Covid-19 Biobank Investigators, COVID Human Genetic Effort, CP-COVID-19 Group, CONSTANCES cohort, 3C-Dijon Study, Cerba Health-Care, Etablissement Français du Sang Study group, ANR-10-LABX-0062,IBEID,Integrative Biology of Emerging Infectious Diseases(2010), ANR-20-COVI-0003,GENCOVID,Identification des défauts monogéniques de l'immunité responsables des formes sévères de COVID-19 chez les patients précédemment en bonne santé(2020), ANR-20-CE93-0003,GENVIR,Analyse multi-omique de l'immunité anti-virale: de l'identification des circuits biologiques pertinents à la découverte de défauts monogéniques héréditaires de l'immunité chez les patients avec infections virales sévères(2020), ANR-19-CE15-0009,CNSVIRGEN,Déficits immunitaires innés dans les infections sévères du tronc cérébral(2019), ANR-20-CO11-0001,AABIFNCOV,Bases génétiques et immunologiques des auto-anticorps contre les interférons de type I prédisposant aux formes sévères de COVID-19.(2020), ANR-21-COVR-0039,GenMIS-C,Recherche des Déficits immunitaires innées monogéniques prédisposant au syndrome inflammatoire multisystémique chez l'enfant.(2021), European Project: 948959,ERC-2020-STG,MORE2ADA2(2021), Manry, J, Bastard, P, Gervais, A, Le Voyer, T, Rosain, J, Philippot, Q, Michailidis, E, Hoffmann, H, Eto, S, Garcia-Prat, M, Bizien, L, Parra-Martínez, A, Yang, R, Haljasmägi, L, Migaud, M, Särekannu, K, Maslovskaja, J, de Prost, N, Tandjaoui-Lambiotte, Y, Luyt, C, Amador-Borrero, B, Gaudet, A, Poissy, J, Morel, P, Richard, P, Cognasse, F, Troya, J, Trouillet-Assant, S, Belot, A, Saker, K, Garçon, P, Rivière, J, Lagier, J, Gentile, S, Rosen, L, Shaw, E, Morio, T, Tanaka, J, Dalmau, D, Tharaux, P, Sene, D, Stepanian, A, Mégarbane, B, Triantafyllia, V, Fekkar, A, Heath, J, Franco, J, Anaya, J, Solé-Violán, J, Imberti, L, Biondi, A, Bonfanti, P, Castagnoli, R, Delmonte, O, Zhang, Y, Snow, A, Holland, S, Biggs, C, Moncada-Vélez, M, Arias, A, Lorenzo, L, Boucherit, S, Anglicheau, D, Planas, A, Haerynck, F, Duvlis, S, Ozcelik, T, Keles, S, Bousfiha, A, El Bakkouri, J, Ramirez-Santana, C, Paul, S, Pan-Hammarström, Q, Hammarström, L, Dupont, A, Kurolap, A, Metz, C, Aiuti, A, Casari, G, Lampasona, V, Ciceri, F, Barreiros, L, Dominguez-Garrido, E, Vidigal, M, Zatz, M, van de Beek, D, Sahanic, S, Tancevski, I, Stepanovskyy, Y, Boyarchuk, O, Nukui, Y, Tsumura, M, Vidaur, L, Tangye, S, Burrel, S, Duffy, D, Quintana-Murci, L, Klocperk, A, Kann, N, Shcherbina, A, Lau, Y, Leung, D, Coulongeat, M, Marlet, J, Koning, R, Reyes, L, Chauvineau-Grenier, A, Venet, F, Monneret, G, Nussenzweig, M, Arrestier, R, Boudhabhay, I, Baris-Feldman, H, Hagin, D, Wauters, J, Meyts, I, Dyer, A, Kennelly, S, Bourke, N, Halwani, R, Sharif-Askari, F, Dorgham, K, Sallette, J, Sedkaoui, S, Alkhater, S, Rigo-Bonnin, R, Morandeira, F, Roussel, L, Vinh, D, Erikstrup, C, Condino-Neto, A, Prando, C, Bondarenko, A, Spaan, A, Gilardin, L, Fellay, J, Lyonnet, S, Bilguvar, K, Lifton, R, Mane, S, Anderson, M, Boisson, B, Béziat, V, Zhang, S, Andreakos, E, Hermine, O, Pujol, A, Peterson, P, Mogensen, T, Rowen, L, Mond, J, Debette, S, de Lamballerie, X, Burdet, C, Bouadma, L, Zins, M, Soler-Palacin, P, Colobran, R, Gorochov, G, Solanich, X, Susen, S, Martinez-Picado, J, Raoult, D, Vasse, M, Gregersen, P, Piemonti, L, Rodríguez-Gallego, C, Notarangelo, L, Su, H, Kisand, K, Okada, S, Puel, A, Jouanguy, E, Rice, C, Tiberghien, P, Zhang, Q, Casanova, J, Abel, L, Cobat, A, Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Imagine Institute, Microbes évolution phylogénie et infections (MEPHI), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Unité des Virus Emergents (UVE), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Cohortes épidémiologiques en population (CONSTANCES), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Université Paris Cité (UPCité), UFR Médecine [Santé] - Université Paris Cité (UFR Médecine UPCité), Université Paris Cité (UPCité), Neurology, AII - Infectious diseases, ANS - Neuroinfection & -inflammation, Graduate School, Université Paris Cité - UFR Médecine [Santé] (UPCité UFR Médecine), Gunst, Jan, Acibadem University Dspace, Manry, Jérémy, Bastard, Paul, Gervais, Adrian, Le Voyer, Tom, Rosain, Jérémie, Philippot, Quentin, Michailidis, Eleftherio, Hoffmann, Hans-Heinrich, Eto, Shohei, Garcia-Prat, Marina, Bizien, Lucy, Parra-Martínez, Alba, Yang, Rui, Haljasmägi, Lii, Migaud, Mélanie, Särekannu, Karita, Maslovskaja, Julia, de Prost, Nicola, Tandjaoui-Lambiotte, Yacine, Luyt, Charles-Edouard, Amador-Borrero, Blanca, Gaudet, Alexandre, Poissy, Julien, Morel, Pascal, Richard, Pascale, Cognasse, Fabrice, Troya, Jesú, Trouillet-Assant, Sophie, Belot, Alexandre, Saker, Kahina, Garçon, Pierre, Rivière, Jacques G, Lagier, Jean-Christophe, Gentile, Stéphanie, Rosen, Lindsey B, Shaw, Elana, Morio, Tomohiro, Tanaka, Junko, Dalmau, David, Tharaux, Pierre-Loui, Sene, Damien, Stepanian, Alain, Mégarbane, Bruno, Triantafyllia, Vasiliki, Fekkar, Arnaud, Heath, James R, Franco, José Lui, Anaya, Juan-Manuel, Solé-Violán, Jordi, Imberti, Luisa, Biondi, Andrea, Bonfanti, Paolo, Castagnoli, Riccardo, Delmonte, Ottavia M, Zhang, Yu, Snow, Andrew L, Holland, Steven M, Biggs, Catherine M, Moncada-Vélez, Marcela, Arias, Andrés Augusto, Lorenzo, Lazaro, Boucherit, Soraya, Anglicheau, Dany, Planas, Anna M, Haerynck, Filomeen, Duvlis, Sotirija, Ozcelik, Tayfun, Keles, Sevgi, Bousfiha, Ahmed A, El Bakkouri, Jalila, Ramirez-Santana, Carolina, Paul, Stéphane, Pan-Hammarström, Qiang, Hammarström, Lennart, Dupont, Annabelle, Kurolap, Alina, Metz, Christine N, Aiuti, Alessandro, Casari, Giorgio, Lampasona, Vito, Ciceri, Fabio, Barreiros, Lucila A, Dominguez-Garrido, Elena, Vidigal, Mateu, Zatz, Mayana, van de Beek, Diederik, Sahanic, Sabina, Tancevski, Ivan, Stepanovskyy, Yurii, Boyarchuk, Oksana, Nukui, Yoko, Tsumura, Miyuki, Vidaur, Loreto, Tangye, Stuart G, Burrel, Sonia, Duffy, Darragh, Quintana-Murci, Llui, Klocperk, Adam, Kann, Nelli Y, Shcherbina, Anna, Lau, Yu-Lung, Leung, Daniel, Coulongeat, Matthieu, Marlet, Julien, Koning, Rutger, Reyes, Luis Felipe, Chauvineau-Grenier, Angélique, Venet, Fabienne, Monneret, Guillaume, Nussenzweig, Michel C, Arrestier, Romain, Boudhabhay, Idri, Baris-Feldman, Hagit, Hagin, David, Wauters, Joost, Meyts, Isabelle, Dyer, Adam H, Kennelly, Sean P, Bourke, Nollaig M, Halwani, Rabih, Sharif-Askari, Fatemeh Saheb, Dorgham, Karim, Sallette, Jérôme, Sedkaoui, Souad Mehlal, Alkhater, Suzan, Rigo-Bonnin, Raúl, Morandeira, Francisco, Roussel, Lucie, Vinh, Donald C, Erikstrup, Christian, Condino-Neto, Antonio, Prando, Carolina, Bondarenko, Anastasiia, Spaan, András N, Gilardin, Laurent, Fellay, Jacque, Lyonnet, Stanisla, Bilguvar, Kaya, Lifton, Richard P, Mane, Shrikant, Anderson, Mark S, Boisson, Bertrand, Béziat, Vivien, Zhang, Shen-Ying, Andreakos, Evangelo, Hermine, Olivier, Pujol, Aurora, Peterson, Pärt, Mogensen, Trine H, Rowen, Lee, Mond, Jame, Debette, Stéphanie, de Lamballerie, Xavier, Burdet, Charle, Bouadma, Lila, Zins, Marie, Soler-Palacin, Pere, Colobran, Roger, Gorochov, Guy, Solanich, Xavier, Susen, Sophie, Martinez-Picado, Javier, Raoult, Didier, Vasse, Marc, Gregersen, Peter K, Piemonti, Lorenzo, Rodríguez-Gallego, Carlo, Notarangelo, Luigi D, Su, Helen C, Kisand, Kai, Okada, Satoshi, Puel, Anne, Jouanguy, Emmanuelle, Rice, Charles M, Tiberghien, Pierre, Zhang, Qian, Casanova, Jean-Laurent, Abel, Laurent, Cobat, Aurélie, Vougny, Marie-Christine, and Amsterdam Neuroscience - Neuroinfection & -inflammation
Subjects: Adult, Male, Risk, infection fatality rate, [SDV.IMM] Life Sciences [q-bio]/Immunology, autoantibodies, chronic mucocutaneous candidiasis, CHRONIC MUCOCUTANEOUS CANDIDIASIS, Autoimmunity, IMMUNITY, [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract, Article, DISEASE, Basic medicine, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, INFECTION, Medicine and Health Sciences, Humans, IMUNOLOGIA, Aged, Autoantibodies, Aged, 80 and over, disease, [SDV.MHEP.ME]Life Sciences [q-bio]/Human health and pathology/Emerging diseases, Multidisciplinary, SARS-CoV-2, type I IFNs, Age Factors, COVID-19, Type I IFNs, Middle Aged, autoantibodie, immunity, Antibodies, Neutralizing, infection, Infection fatality rate, Relative risk, relative risk, [SDV.TOX]Life Sciences [q-bio]/Toxicology, Interferon Type I, [SDV.IMM]Life Sciences [q-bio]/Immunology, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Female, type I IFN
Abstract: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection fatality rate (IFR) doubles with every 5 y of age from childhood onward. Circulating autoantibodies neutralizing IFN-α, IFN-ω, and/or IFN-β are found in ∼20% of deceased patients across age groups, and in ∼1% of individuals aged 4% of those >70 y old in the general population. With a sample of 1,261 unvaccinated deceased patients and 34,159 individuals of the general population sampled before the pandemic, we estimated both IFR and relative risk of death (RRD) across age groups for individuals carrying autoantibodies neutralizing type I IFNs, relative to noncarriers. The RRD associated with any combination of autoantibodies was higher in subjects under 70 y old. For autoantibodies neutralizing IFN-α2 or IFN-ω, the RRDs were 17.0 (95% CI: 11.7 to 24.7) and 5.8 (4.5 to 7.4) for individuals, The Laboratory of Human Genetics of Infectious Diseases is supported by the Howard Hughes Medical Institute; The Rockefeller University; the St. Giles Foundation; the NIH (Grants R01AI088364 and R01AI163029); the National Center for Advancing Translational Sciences; NIH Clinical and Translational Science Awards program (Grant UL1 TR001866); a Fast Grant from Emergent Ventures; Mercatus Center at George Mason University; the Yale Center for Mendelian Genomics and the Genome Sequencing Program Coordinating Center funded by the National Human Genome Research Institute (Grants UM1HG006504 and U24HG008956); the Yale High Performance Computing Center (Grant S10OD018521); the Fisher Center for Alzheimer’s Research Foundation; the Meyer Foundation; the JPB Foundation; the French National Research Agency (ANR) under the “Investments for the Future” program (Grant ANR-10-IAHU-01); the Integrative Biology of Emerging Infectious Diseases Laboratory of Excellence (Grant ANR-10-LABX-62-IBEID); the French Foundation for Medical Research (FRM) (Grant EQU201903007798); the French Agency for Research on AIDS and Viral hepatitis (ANRS) Nord-Sud (Grant ANRS-COV05); the ANR GENVIR (Grant ANR-20-CE93-003), AABIFNCOV (Grant ANR-20-CO11-0001), CNSVIRGEN (Grant ANR-19-CE15-0009-01), and GenMIS-C (Grant ANR-21-COVR-0039) projects; the Square Foundation; Grandir–Fonds de solidarité pour l’Enfance; the Fondation du Souffle; the SCOR Corporate Foundation for Science; The French Ministry of Higher Education, Research, and Innovation (Grant MESRI-COVID-19); Institut National de la Santé et de la Recherche Médicale (INSERM), REACTing-INSERM; and the University Paris Cité. P. Bastard was supported by the FRM (Award EA20170638020). P. Bastard., J.R., and T.L.V. were supported by the MD-PhD program of the Imagine Institute (with the support of Fondation Bettencourt Schueller). Work at the Neurometabolic Disease lab received funding from Centre for Biomedical Research on Rare Diseases (CIBERER) (Grant ACCI20-767) and the European Union's Horizon 2020 research and innovation program under grant agreement 824110 (EASI Genomics). Work in the Laboratory of Virology and Infectious Disease was supported by the NIH (Grants P01AI138398-S1, 2U19AI111825, and R01AI091707-10S1), a George Mason University Fast Grant, and the G. Harold and Leila Y. Mathers Charitable Foundation. The Infanta Leonor University Hospital supported the research of the Department of Internal Medicine and Allergology. The French COVID Cohort study group was sponsored by INSERM and supported by the REACTing consortium and by a grant from the French Ministry of Health (Grant PHRC 20-0424). The Cov-Contact Cohort was supported by the REACTing consortium, the French Ministry of Health, and the European Commission (Grant RECOVER WP 6). This work was also partly supported by the Intramural Research Program of the National Institute of Allergy and Infectious Diseases and the National Institute of Dental and Craniofacial Research, NIH (Grants ZIA AI001270 to L.D.N. and 1ZIAAI001265 to H.C.S.). This program is supported by the Agence Nationale de la Recherche (Grant ANR-10-LABX-69-01). K.K.’s group was supported by the Estonian Research Council, through Grants PRG117 and PRG377. R.H. was supported by an Al Jalila Foundation Seed Grant (Grant AJF202019), Dubai, United Arab Emirates, and a COVID-19 research grant (Grant CoV19-0307) from the University of Sharjah, United Arab Emirates. S.G.T. is supported by Investigator and Program Grants awarded by the National Health and Medical Research Council of Australia and a University of New South Wales COVID Rapid Response Initiative Grant. L.I. reports funding from Regione Lombardia, Italy (project “Risposta immune in pazienti con COVID-19 e co-morbidità”). This research was partially supported by the Instituto de Salud Carlos III (Grant COV20/0968). J.R.H. reports funding from Biomedical Advanced Research and Development Authority (Grant HHSO10201600031C). S.O. reports funding from Research Program on Emerging and Re-emerging Infectious Diseases from Japan Agency for Medical Research and Development (Grant JP20fk0108531). G.G. was supported by the ANR Flash COVID-19 program and SARS-CoV-2 Program of the Faculty of Medicine from Sorbonne University iCOVID programs. The 3C Study was conducted under a partnership agreement between INSERM, Victor Segalen Bordeaux 2 University, and Sanofi-Aventis. The Fondation pour la Recherche Médicale funded the preparation and initiation of the study. The 3C Study was also supported by the Caisse Nationale d’Assurance Maladie des Travailleurs Salariés, Direction générale de la Santé, Mutuelle Générale de l’Education Nationale, Institut de la Longévité, Conseils Régionaux of Aquitaine and Bourgogne, Fondation de France, and Ministry of Research–INSERM Program “Cohortes et collections de données biologiques.” S. Debette was supported by the University of Bordeaux Initiative of Excellence. P.K.G. reports funding from the National Cancer Institute, NIH, under Contract 75N91019D00024, Task Order 75N91021F00001. J.W. is supported by a Research Foundation - Flanders (FWO) Fundamental Clinical Mandate (Grant 1833317N). Sample processing at IrsiCaixa was possible thanks to the crowdfunding initiative YoMeCorono. Work at Vall d’Hebron was also partly supported by research funding from Instituto de Salud Carlos III Grant PI17/00660 cofinanced by the European Regional Development Fund (ERDF/FEDER). C.R.-G. and colleagues from the Canarian Health System Sequencing Hub were supported by the Instituto de Salud Carlos III (Grants COV20_01333 and COV20_01334), the Spanish Ministry for Science and Innovation (RTC-2017-6471-1; AEI/FEDER, European Union), Fundación DISA (Grants OA18/017 and OA20/024), and Cabildo Insular de Tenerife (Grants CGIEU0000219140 and “Apuestas científicas del ITER para colaborar en la lucha contra la COVID-19”). T.H.M. was supported by grants from the Novo Nordisk Foundation (Grants NNF20OC0064890 and NNF21OC0067157). C.M.B. is supported by a Michael Smith Foundation for Health Research Health Professional-Investigator Award. P.Q.H. and L. Hammarström were funded by the European Union’s Horizon 2020 research and innovation program (Antibody Therapy Against Coronavirus consortium, Grant 101003650). Work at Y.-L.L.’s laboratory in the University of Hong Kong (HKU) was supported by the Society for the Relief of Disabled Children. MBBS/PhD study of D.L. in HKU was supported by the Croucher Foundation. J.L.F. was supported in part by the Evaluation-Orientation de la Coopération Scientifique (ECOS) Nord - Coopération Scientifique France-Colombie (ECOS-Nord/Columbian Administrative department of Science, Technology and Innovation [COLCIENCIAS]/Colombian Ministry of National Education [MEN]/Colombian Institute of Educational Credit and Technical Studies Abroad [ICETEX, Grant 806-2018] and Colciencias Contract 713-2016 [Code 111574455633]). A. Klocperk was, in part, supported by Grants NU20-05-00282 and NV18-05-00162 issued by the Czech Health Research Council and Ministry of Health, Czech Republic. L.P. was funded by Program Project COVID-19 OSR-UniSR and Ministero della Salute (Grant COVID-2020-12371617). I.M. is a Senior Clinical Investigator at the Research Foundation–Flanders and is supported by the CSL Behring Chair of Primary Immunodeficiencies (PID); by the Katholieke Universiteit Leuven C1 Grant C16/18/007; by a Flanders Institute for Biotechnology-Grand Challenges - PID grant; by the FWO Grants G0C8517N, G0B5120N, and G0E8420N; and by the Jeffrey Modell Foundation. I.M. has received funding under the European Union’s Horizon 2020 research and innovation program (Grant Agreement 948959). E.A. received funding from the Hellenic Foundation for Research and Innovation (Grant INTERFLU 1574). M. Vidigal received funding from the São Paulo Research Foundation (Grant 2020/09702-1) and JBS SA (Grant 69004). The NH-COVAIR study group consortium was supported by a grant from the Meath Foundation.
Published: 2022
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50. Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing

Author: Baurand, Amandine, Falcon-Eicher, Sylvie, Laurent, Gabriel, Villain, Elisabeth, Bonnet, Caroline, Thauvin-Robinet, Christel, Jacquot, Caroline, Eicher, Jean-Christophe, Gourraud, Jean-Baptiste, Schmitt, Sébastien, Bézieau, Stéphane, Giraud, Mathilde, Dumont, Solenne, Kuentz, Paul, Probst, Vincent, Burguet, Antoine, Kyndt, Florence, and Faivre, Laurence
Published: 2017
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