143 results on '"Elloumi, Houda"'
Search Results
2. Further delineation of the SCAF4-associated neurodevelopmental disorder
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Schmid, Cosima M., Gregor, Anne, Ruiz, Anna, Manso Bazús, Carmen, Herman, Isabella, Ammouri, Farah, Kotzaeridou, Urania, McNiven, Vanda, Dupuis, Lucie, Steindl, Katharina, Begemann, Anaïs, Rauch, Anita, Suter, Aude-Annick, Isidor, Bertrand, Mercier, Sandra, Nizon, Mathilde, Cogné, Benjamin, Deb, Wallid, Besnard, Thomas, Haack, Tobias B., Falb, Ruth J., Müller, Amelie J., Linden, Tobias, Haldeman-Englert, Chad R., Ockeloen, Charlotte W., Mattioli, Francesca, Reymond, Alexandre, Ibrahim, Nazia, Naz, Shagufta, Lacaze, Elodie, Bassetti, Jennifer A., Hoefele, Julia, Brunet, Theresa, Riedhammer, Korbinian M., Elloumi, Houda Z., Person, Richard, Zou, Fanggeng, Kahle, Juliette J., Cremer, Kirsten, Schmidt, Axel, Delrue, Marie-Ange, Almeida, Pedro M., Ramos, Fabiana, Srivastava, Siddharth, Quinlan, Aisling, Robertson, Stephen, Manka, Eva, Kuechler, Alma, Spranger, Stephanie, Nowaczyk, Malgorzata J. M., Elshafie, Reem M., Alsharhan, Hind, Hillman, Paul R., Dunnington, Leslie A., Braakman, Hilde M. H., McKee, Shane, Moresco, Angelica, Ignat, Andrea-Diana, Newbury-Ecob, Ruth, Banneau, Guillaume, Patat, Olivier, Kuerbitz, Jeffrey, Rzucidlo, Susan, Sell, Susan S., Gordon, Patricia, Schuhmann, Sarah, Reis, André, Halleb, Yosra, Stoeva, Radka, Keren, Boris, Al Masseri, Zainab, Tümer, Zeynep, Hammer-Hansen, Sophia, Krüger Sølyst, Sofus, Steigerwald, Connolly G., Abreu, Nicolas J., Faust, Helene, Müller-Nedebock, Amica, Tran Mau-Them, Frédéric, Sticht, Heinrich, and Zweier, Christiane
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- 2024
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3. Novel variants in the SOX11 gene: clinical description of seven new patients
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Schincariol-Manhe, Beatriz, Campagnolo, Érica, Spineli-Silva, Samira, de Leeuw, Nicole, Correia-Costa, Gabriela Roldão, Pessoa, André, de Souza, Carolina Fischinger Moura, Stevens, Cathy, Javaher, Poupak, Scallet, Helena Fabbri, Mohr, Julia, Biskup, Saskia, Herkert, Johanna C., Pfundt, Rolph, Mehta, Lakshmi, Rekab, Aisha, Elloumi, Houda Zghal, Sanyoura, May, Maciel-Guerra, Andréa Trevas, Gil-da-Silva-Lopes, Vera Lúcia, dos Santos, Ana Mondadori, and Vieira, Társis Paiva
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- 2024
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4. Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles
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Bassani, Sissy, Chrast, Jacqueline, Ambrosini, Giovanna, Voisin, Norine, Schütz, Frédéric, Brusco, Alfredo, Sirchia, Fabio, Turban, Lydia, Schubert, Susanna, Abou Jamra, Rami, Schlump, Jan-Ulrich, DeMille, Desiree, Bayrak-Toydemir, Pinar, Nelson, Gary Rex, Wong, Kristen Nicole, Duncan, Laura, Mosera, Mackenzie, Gilissen, Christian, Vissers, Lisenka E. L. M., Pfundt, Rolph, Kersseboom, Rogier, Yttervik, Hilde, Hansen, Geir Åsmund Myge, Smeland, Marie Falkenberg, Butler, Kameryn M., Lyons, Michael J., Carvalho, Claudia M. B., Zhang, Chaofan, Lupski, James R., Potocki, Lorraine, Flores-Gallegos, Leticia, Morales-Toquero, Rodrigo, Petit, Florence, Yalcin, Binnaz, Tuttle, Annabelle, Elloumi, Houda Zghal, McCormick, Lane, Kukolich, Mary, Klaas, Oliver, Horvath, Judit, Scala, Marcello, Iacomino, Michele, Operto, Francesca, Zara, Federico, Writzl, Karin, Maver, Aleš, Haanpää, Maria K., Pohjola, Pia, Arikka, Harri, Kievit, Anneke J. A., Calandrini, Camilla, Iseli, Christian, Guex, Nicolas, and Reymond, Alexandre
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- 2024
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5. Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum
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Calame, Daniel G., Wong, Jovi Huixin, Panda, Puravi, Nguyen, Dat Tuan, Leong, Nancy C.P., Sangermano, Riccardo, Patankar, Sohil G., Abdel-Hamid, Mohamed S., AlAbdi, Lama, Safwat, Sylvia, Flannery, Kyle P., Dardas, Zain, Fatih, Jawid M., Murali, Chaya, Kannan, Varun, Lotze, Timothy E., Herman, Isabella, Ammouri, Farah, Rezich, Brianna, Efthymiou, Stephanie, Alavi, Shahryar, Murphy, David, Firoozfar, Zahra, Nasab, Mahya Ebrahimi, Bahreini, Amir, Ghasemi, Majid, Haridy, Nourelhoda A., Goldouzi, Hamid Reza, Eghbal, Fatemeh, Karimiani, Ehsan Ghayoor, Begtrup, Amber, Elloumi, Houda, Srinivasan, Varunvenkat M., Gowda, Vykuntaraju K., Du, Haowei, Jhangiani, Shalini N., Coban-Akdemir, Zeynep, Marafi, Dana, Rodan, Lance, Isikay, Sedat, Rosenfeld, Jill A., Ramanathan, Subhadra, Staton, Michael, Oberg, Kerby C., Clark, Robin D., Wenman, Catharina, Loughlin, Sam, Saad, Ramy, Ashraf, Tazeen, Male, Alison, Tadros, Shereen, Boostani, Reza, Abdel-Salam, Ghada M.H., Zaki, Maha, Mardi, Ali, Hashemi-Gorji, Farzad, Abdalla, Ebtesam, Manzini, M. Chiara, Pehlivan, Davut, Posey, Jennifer E., Gibbs, Richard A., Houlden, Henry, Alkuraya, Fowzan S., Bujakowska, Kinga, Maroofian, Reza, Lupski, James R., and Nguyen, Long N.
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- 2025
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6. Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
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Gracia-Diaz, Carolina, Zhou, Yijing, Yang, Qian, Maroofian, Reza, Espana-Bonilla, Paula, Lee, Chul-Hwan, Zhang, Shuo, Padilla, Natàlia, Fueyo, Raquel, Waxman, Elisa A., Lei, Sunyimeng, Otrimski, Garrett, Li, Dong, Sheppard, Sarah E., Mark, Paul, Harr, Margaret H., Hakonarson, Hakon, Rodan, Lance, Jackson, Adam, Vasudevan, Pradeep, Powel, Corrina, Mohammed, Shehla, Maddirevula, Sateesh, Alzaidan, Hamad, Faqeih, Eissa A., Efthymiou, Stephanie, Turchetti, Valentina, Rahman, Fatima, Maqbool, Shazia, Salpietro, Vincenzo, Ibrahim, Shahnaz H., di Rosa, Gabriella, Houlden, Henry, Alharbi, Maha Nasser, Al-Sannaa, Nouriya Abbas, Bauer, Peter, Zifarelli, Giovanni, Estaras, Conchi, Hurst, Anna C. E., Thompson, Michelle L., Chassevent, Anna, Smith-Hicks, Constance L., de la Cruz, Xavier, Holtz, Alexander M., Elloumi, Houda Zghal, Hajianpour, M J, Rieubland, Claudine, Braun, Dominique, Banka, Siddharth, French, Deborah L., Heller, Elizabeth A., Saade, Murielle, Song, Hongjun, Ming, Guo-li, Alkuraya, Fowzan S., Agrawal, Pankaj B., Reinberg, Danny, Bhoj, Elizabeth J., Martínez-Balbás, Marian A., and Akizu, Naiara
- Published
- 2023
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7. Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
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Hiatt, Susan M., Trajkova, Slavica, Sebastiano, Matteo Rossi, Partridge, E. Christopher, Abidi, Fatima E., Anderson, Ashlyn, Ansar, Muhammad, Antonarakis, Stylianos E., Azadi, Azadeh, Bachmann-Gagescu, Ruxandra, Bartuli, Andrea, Benech, Caroline, Berkowitz, Jennifer L., Betti, Michael J., Brusco, Alfredo, Cannon, Ashley, Caron, Giulia, Chen, Yanmin, Cochran, Meagan E., Coleman, Tanner F., Crenshaw, Molly M., Cuisset, Laurence, Curry, Cynthia J., Darvish, Hossein, Demirdas, Serwet, Descartes, Maria, Douglas, Jessica, Dyment, David A., Elloumi, Houda Zghal, Ermondi, Giuseppe, Faoucher, Marie, Farrow, Emily G., Felker, Stephanie A., Fisher, Heather, Hurst, Anna C.E., Joset, Pascal, Kelly, Melissa A., Kmoch, Stanislav, Leadem, Benjamin R., Lyons, Michael J., Macchiaiolo, Marina, Magner, Martin, Mandrile, Giorgia, Mattioli, Francesca, McEown, Megan, Meadows, Sarah K., Medne, Livija, Meeks, Naomi J.L., Montgomery, Sarah, Napier, Melanie P., Natowicz, Marvin, Newberry, Kimberly M., Niceta, Marcello, Noskova, Lenka, Nowak, Catherine B., Noyes, Amanda G., Osmond, Matthew, Prijoles, Eloise J., Pugh, Jada, Pullano, Verdiana, Quélin, Chloé, Rahimi-Aliabadi, Simin, Rauch, Anita, Redon, Sylvia, Reymond, Alexandre, Schwager, Caitlin R., Sellars, Elizabeth A., Scheuerle, Angela E., Shukarova-Angelovska, Elena, Skraban, Cara, Stolerman, Elliot, Sullivan, Bonnie R., Tartaglia, Marco, Thiffault, Isabelle, Uguen, Kevin, Umaña, Luis A., van Bever, Yolande, van der Crabben, Saskia N., van Slegtenhorst, Marjon A., Waisfisz, Quinten, Washington, Camerun, Rodan, Lance H., Myers, Richard M., and Cooper, Gregory M.
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- 2023
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8. Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities
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Whittle, Ella F., Chilian, Madison, Karimiani, Ehsan Ghayoor, Progri, Helga, Buhas, Daniela, Kose, Melis, Ganetzky, Rebecca D., Toosi, Mehran Beiraghi, Torbati, Paria Najarzadeh, Badv, Reza Shervin, Shelihan, Ivan, Yang, Hui, Elloumi, Houda Zghal, Lee, Sukyeong, Jamshidi, Yalda, Pittman, Alan M., Houlden, Henry, Ignatius, Erika, Rahman, Shamima, Maroofian, Reza, Yoon, Wan Hee, and Carroll, Christopher J.
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- 2023
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9. Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome
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Steele, Jacqueline L., Morrow, Michelle M., Sarnat, Harvey B., Alkhunaizi, Ebba, Brandt, Tracy, Chitayat, David A., DeFilippo, Colette P., Douglas, Ganka V., Dubbs, Holly A., Elloumi, Houda Zghal, Glassford, Megan R., Hannibal, Mark C., Héron, Bénédicte, Kim, Linda E., Marco, Elysa J., Mignot, Cyril, Monaghan, Kristin G., Myers, Kenneth A., Parikh, Sumit, Quinonez, Shane C., Rajabi, Farrah, Shankar, Suma P., Shinawi, Marwan S., van de Kamp, Jiddeke J.P., Veerapandiyan, Aravindhan, Waldman, Amy T., and Graf, William D.
- Published
- 2022
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10. Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
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Weerts, Marjolein J.A., Lanko, Kristina, Guzmán-Vega, Francisco J., Jackson, Adam, Ramakrishnan, Reshmi, Cardona-Londoño, Kelly J., Peña-Guerra, Karla A., van Bever, Yolande, van Paassen, Barbara W., Kievit, Anneke, van Slegtenhorst, Marjon, Allen, Nicholas M., Kehoe, Caroline M., Robinson, Hannah K., Pang, Lewis, Banu, Selina H., Zaman, Mashaya, Efthymiou, Stephanie, Houlden, Henry, Järvelä, Irma, Lauronen, Leena, Määttä, Tuomo, Schrauwen, Isabelle, Leal, Suzanne M., Ruivenkamp, Claudia A.L., Barge-Schaapveld, Daniela Q.C.M., Peeters-Scholte, Cacha M.P.C.D., Galehdari, Hamid, Mazaheri, Neda, Sisodiya, Sanjay M., Harrison, Victoria, Sun, Angela, Thies, Jenny, Pedroza, Luis Alberto, Lara-Taranchenko, Yana, Chinn, Ivan K., Lupski, James R., Garza-Flores, Alexandra, McGlothlin, Jeffery, Yang, Lin, Huang, Shaoping, Wang, Xiaodong, Jewett, Tamison, Rosso, Gretchen, Lin, Xi, Mohammed, Shehla, Merritt, J. Lawrence, II, Mirzaa, Ghayda M., Timms, Andrew E., Scheck, Joshua, Elting, Mariet W., Polstra, Abeltje M., Schenck, Lauren, Ruzhnikov, Maura R.Z., Vetro, Annalisa, Montomoli, Martino, Guerrini, Renzo, Koboldt, Daniel C., Mosher, Theresa Mihalic, Pastore, Matthew T., McBride, Kim L., Peng, Jing, Pan, Zou, Willemsen, Marjolein, Koning, Susanne, Turnpenny, Peter D., de Vries, Bert B.A., Gilissen, Christian, Pfundt, Rolph, Lees, Melissa, Braddock, Stephen R., Klemp, Kara C., Vansenne, Fleur, van Gijn, Marielle E., Quindipan, Catherine, Deardorff, Matthew A., Hamm, J. Austin, Putnam, Abbey M., Baud, Rebecca, Walsh, Laurence, Lynch, Sally A., Baptista, Julia, Person, Richard E., Monaghan, Kristin G., Crunk, Amy, Keller-Ramey, Jennifer, Reich, Adi, Elloumi, Houda Zghal, Alders, Marielle, Kerkhof, Jennifer, McConkey, Haley, Haghshenas, Sadegheh, Maroofian, Reza, Sadikovic, Bekim, Banka, Siddharth, Arold, Stefan T., and Barakat, Tahsin Stefan
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- 2021
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11. Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish
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Lin, Sheng-Jia, Vona, Barbara, Barbalho, Patricia G., Kaiyrzhanov, Rauan, Maroofian, Reza, Petree, Cassidy, Severino, Mariasavina, Stanley, Valentina, Varshney, Pratishtha, Bahena, Paulina, Alzahrani, Fatema, Alhashem, Amal, Pagnamenta, Alistair T., Aubertin, Gudrun, Estrada-Veras, Juvianee I., Hernández, Héctor Adrián Díaz, Mazaheri, Neda, Oza, Andrea, Thies, Jenny, Renaud, Deborah L., Dugad, Sanmati, McEvoy, Jennifer, Sultan, Tipu, Pais, Lynn S., Tabarki, Brahim, Villalobos-Ramirez, Daniel, Rad, Aboulfazl, Ambrose, J.C., Arumugam, P., Bleda, M., Boardman-Pretty, F., Boustred, C.R., Brittain, H., Caulfield, M.J., Chan, G.C., Fowler, T., Giess, A., Hamblin, A., Henderson, S., Hubbard, T.J.P., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., O‘Donovan, P., Odhams, C.A., Patch, C., Perez-Gil, D., Pereira, M.B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smith, S.C., Sosinsky, A., Stuckey, A., Tanguy, M., Thomas, E.R.A., Thompson, S.R., Tucci, A., Walsh, E., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Galehdari, Hamid, Ashrafzadeh, Farah, Sahebzamani, Afsaneh, Saeidi, Kolsoum, Torti, Erin, Elloumi, Houda Z., Mora, Sara, Palculict, Timothy B., Yang, Hui, Wren, Jonathan D., Ben Fowler, Joshi, Manali, Behra, Martine, Burgess, Shawn M., Nath, Swapan K., Hanna, Michael G., Kenna, Margaret, Merritt, J. Lawrence, II, Houlden, Henry, Karimiani, Ehsan Ghayoor, Zaki, Maha S., Haaf, Thomas, Alkuraya, Fowzan S., Gleeson, Joseph G., and Varshney, Gaurav K.
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- 2021
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12. Chromatin assembly factor subunit CHAF1Aas a monogenic cause for oculo-auriculo-vertebral spectrum
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Pingault, Véronique, Neiva-Vaz, Cécilia, de Oliveira, Judite, Martínez-Gil, Núria, Lasa-Aranzasti, Amaia, Campos, Berta, Lakeman, Inge M. M., Nibbeling, Esther A. R., Stoeva, Radka, Jayakar, Parul, Dabir, Tabib, Elloumi, Houda Zghal, Strong, Alanna, Hanein, Sylvain, Picard, Arnaud, Ochsenbein, Francoise, Blanc, Pierre, and Amiel, Jeanne
- Abstract
Oculo-auriculo-vertebral spectrum (OAVS) is characterized by abnormal development of the 1st and 2nd branchial arches. Despite arguments against a monogenic condition, a few genes have been involved in a minority of cases. We now report heterozygous, presumably loss-of function variants in the CHAF1Agene in 8 individuals, including 3 members of the same family. Four cases fulfill stringent diagnostic criteria for OAVS, including asymmetric ear dysplasia, preauricular tags, mandibular asymmetry +/− vertebral malformations. Two patients also presented with kidney malformations. CHAF1Aencodes a subunit of CAF-1 (chromatin assembly factor-1), a heterotrimeric protein complex responsible for the deposition of newly synthesized histones H3-H4 onto the newly synthetized DNA strand during replication. The identification of loss-of-unction variants in CHAF1Ais consistent with the hypothesis of early developmental genes dysregulation driving OAVS and other associations recently lumped under the acronym Recurrent Constellations of Embryonic Malformations (RCEM).
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- 2025
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13. Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype
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Garber, Alison, primary, Weingarten, Lisa S., additional, Abreu, Nicolas J., additional, Elloumi, Houda Zghal, additional, Haack, Tobias, additional, Hildebrant, Clara, additional, Martínez‐Gil, Núria, additional, Mathews, Jennifer, additional, Müller, Amelie Johanna, additional, Valenzuela Palafoll, Irene, additional, Steigerwald, Connolly, additional, and Chung, Wendy K., additional
- Published
- 2024
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14. Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants
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Genetica, Genetica Klinische Genetica, Circulatory Health, Sewani, Soha, Azamian, Mahshid S., Mendelsohn, Bryce A., Mau-Them, Frederic Tran, Réda, Manon, Nambot, Sophie, Isidor, Bertrand, van der Smagt, Jasper J., Shen, Joseph J., Shillington, Amelle, White, Lori, Elloumi, Houda Zghal, Baker, Peter R., Svihovec, Shayna, Brown, Kathleen, Koopman-Keemink, Yvonne, Hoffer, Mariette J.V., Lakeman, Inge M.M., Brischoux-Boucher, Elise, Kinali, Maria, Zhao, Xiaonan, Lalani, Seema R., Scott, Daryl A., Genetica, Genetica Klinische Genetica, Circulatory Health, Sewani, Soha, Azamian, Mahshid S., Mendelsohn, Bryce A., Mau-Them, Frederic Tran, Réda, Manon, Nambot, Sophie, Isidor, Bertrand, van der Smagt, Jasper J., Shen, Joseph J., Shillington, Amelle, White, Lori, Elloumi, Houda Zghal, Baker, Peter R., Svihovec, Shayna, Brown, Kathleen, Koopman-Keemink, Yvonne, Hoffer, Mariette J.V., Lakeman, Inge M.M., Brischoux-Boucher, Elise, Kinali, Maria, Zhao, Xiaonan, Lalani, Seema R., and Scott, Daryl A.
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- 2024
15. Variant-specific pathophysiological mechanisms ofAFF3differently influence transcriptome profiles
- Author
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Bassani, Sissy, primary, Chrast, Jacqueline, additional, Ambrosini, Giovanna, additional, Voisin, Norine, additional, Schütz, Frédéric, additional, Brusco, Alfredo, additional, Sirchia, Fabio, additional, Turban, Lydia, additional, Schubert, Susanna, additional, Jamra, Rami Abou, additional, Schlump, Jan-Ulrich, additional, DeMille, Desiree, additional, Bayrak-Toydemir, Pinar, additional, Nelson, Gary Rex, additional, Wong, Kristen Nicole, additional, Duncan, Laura, additional, Mosera, Mackenzie, additional, Gilissen, Christian, additional, Vissers, Lisenka E.L.M., additional, Pfundt, Rolph, additional, Kersseboom, Rogier, additional, Yttervik, Hilde, additional, Hansen, Geir Åsmund Myge, additional, Smeland, Marie Falkenberg, additional, Butler, Kameryn M., additional, Lyons, Michael J., additional, Carvalho, Claudia M.B., additional, Zhang, Chaofan, additional, Lupski, James R., additional, Potocki, Lorraine, additional, Flores-Gallegos, Leticia, additional, Morales-Toquero, Rodrigo, additional, Petit, Florence, additional, Yalcin, Binnaz, additional, Tuttle, Annabelle, additional, Elloumi, Houda Zghal, additional, Mccormick, Lane, additional, Kukolich, Mary, additional, Klaas, Oliver, additional, Horvath, Judit, additional, Scala, Marcello, additional, Iacomino, Michele, additional, Operto, Francesca, additional, Zara, Federico, additional, Writzl, Karin, additional, Maver, Ales, additional, Haanpää, Maria K., additional, Pohjola, Pia, additional, Arikka, Harri, additional, Iseli, Christian, additional, Guex, Nicolas, additional, and Reymond, Alexandre, additional
- Published
- 2024
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16. Novel variants in the SOX11 gene: additional evidence for the involvement of SOX11 in hypogonadotropic hypogonadism
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Vieira, Tarsis, primary, Schincariol-Manhe, Beatriz, additional, Campagnolo, Érica, additional, Spineli-Silva, Samira, additional, de Leeuw, Nicole, additional, Correia-Costa, Gabriela, additional, Pessoa, André, additional, de Souza, Carolina, additional, Stevens, Cathy, additional, Javaher, Poupak, additional, Scallet, Helena, additional, Mohr, Julia, additional, Biskup, Saskia, additional, Herkert, Johanna, additional, Pfundt, Rolph, additional, Mehta, Lakshmi, additional, Rekab, Aisha, additional, Elloumi, Houda, additional, Maciel-Guerra, Andréa, additional, Lopes, Vera Lucia Gil da Silva, additional, Santos, Ana dos, additional, and Sanyoura, May, additional
- Published
- 2024
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17. Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein
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de Boer, Elke, primary, Ockeloen, Charlotte W., additional, Kampen, Rosalie A., additional, Hampstead, Juliet E., additional, Dingemans, Alexander J.M., additional, Rots, Dmitrijs, additional, Lütje, Lukas, additional, Ashraf, Tazeen, additional, Baker, Rachel, additional, Barat-Houari, Mouna, additional, Angle, Brad, additional, Chatron, Nicolas, additional, Denommé-Pichon, Anne-Sophie, additional, Devinsky, Orrin, additional, Dubourg, Christèle, additional, Elmslie, Frances, additional, Elloumi, Houda Zghal, additional, Faivre, Laurence, additional, Fitzgerald-Butt, Sarah, additional, Geneviève, David, additional, Goos, Jacqueline A.C., additional, Helm, Benjamin M., additional, Kini, Usha, additional, Lasa-Aranzasti, Amaia, additional, Lesca, Gaetan, additional, Lynch, Sally A., additional, Mathijssen, Irene M.J., additional, McGowan, Ruth, additional, Monaghan, Kristin G., additional, Odent, Sylvie, additional, Pfundt, Rolph, additional, Putoux, Audrey, additional, van Reeuwijk, Jeroen, additional, Santen, Gijs W.E., additional, Sasaki, Erina, additional, Sorlin, Arthur, additional, van der Spek, Peter J., additional, Stegmann, Alexander P.A., additional, Swagemakers, Sigrid M.A., additional, Valenzuela, Irene, additional, Viora-Dupont, Eléonore, additional, Vitobello, Antonio, additional, Ware, Stephanie M., additional, Wéber, Mathys, additional, Gilissen, Christian, additional, Low, Karen J., additional, Fisher, Simon E., additional, Vissers, Lisenka E.L.M., additional, Wong, Maggie M.K., additional, and Kleefstra, Tjitske, additional
- Published
- 2023
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18. Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss‐of‐function variants
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Sewani, Soha, primary, Azamian, Mahshid S., additional, Mendelsohn, Bryce A., additional, Mau‐Them, Frederic Tran, additional, Réda, Manon, additional, Nambot, Sophie, additional, Isidor, Bertrand, additional, van der Smagt, Jasper J., additional, Shen, Joseph J., additional, Shillington, Amelle, additional, White, Lori, additional, Elloumi, Houda Zghal, additional, Baker, Peter R., additional, Svihovec, Shayna, additional, Brown, Kathleen, additional, Koopman‐Keemink, Yvonne, additional, Hoffer, Mariette J. V., additional, Lakeman, Inge M. M., additional, Brischoux‐Boucher, Elise, additional, Kinali, Maria, additional, Zhao, Xiaonan, additional, Lalani, Seema R., additional, and Scott, Daryl A., additional
- Published
- 2023
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19. Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss‐of‐function variants.
- Author
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Sewani, Soha, Azamian, Mahshid S., Mendelsohn, Bryce A., Mau‐Them, Frederic Tran, Réda, Manon, Nambot, Sophie, Isidor, Bertrand, van der Smagt, Jasper J., Shen, Joseph J., Shillington, Amelle, White, Lori, Elloumi, Houda Zghal, Baker, Peter R., Svihovec, Shayna, Brown, Kathleen, Koopman‐Keemink, Yvonne, Hoffer, Mariette J. V., Lakeman, Inge M. M., Brischoux‐Boucher, Elise, and Kinali, Maria
- Abstract
The bromodomain adjacent to zinc finger 2B (BAZ2B) gene encodes a chromatin remodeling protein that has been shown to perform a variety of regulatory functions. It has been proposed that loss of BAZ2B function is associated with neurodevelopmental phenotypes, and some recurrent structural birth defects and dysmorphic features have been documented among individuals carrying heterozygous loss‐of‐function BAZ2B variants. However, additional evidence is needed to confirm that these phenotypes are attributable to BAZ2B deficiency. Here, we report 10 unrelated individuals with heterozygous deletions, stop‐gain, frameshift, missense, splice junction, indel, and start‐loss variants affecting BAZ2B. These included a paternal intragenic deletion and a maternal frameshift variant that were inherited from mildly affected or asymptomatic parents. The analysis of molecular and clinical data from this cohort, and that of individuals previously reported, suggests that BAZ2B haploinsufficiency causes an autosomal dominant neurodevelopmental syndrome that is incompletely penetrant. The phenotypes most commonly seen in association with loss of BAZ2B function include developmental delay, intellectual disability, autism spectrum disorder, speech delay—with some affected individuals being non‐verbal—behavioral abnormalities, seizures, vision‐related issues, congenital heart defects, poor fetal growth, and an indistinct pattern of dysmorphic features in which epicanthal folds and small ears are particularly common. [ABSTRACT FROM AUTHOR]
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- 2024
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20. P180: Expanding the phenotype spectrum of Mendelian diseases with a genotype-first approach
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Sacoto, Maria Guillen, Elloumi, Houda, McGee, Stephen, Ustach, Vincent, and Brandt, Tracy
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- 2024
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21. P130: Phenotypic spectrum of individuals with SLC16A2 variants: Allan-Herndon-Dudley syndrome*
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McWalter, Kirsty, Bauer, Andrew, Elloumi, Houda, Sidlow, Richard, Willis, Ben, and Walsh, John
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- 2024
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22. Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
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National Institutes of Health (US), Ministerio de Economía y Competitividad (España), Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), University of Alabama at Birmingham, Ministerio de Ciencia e Innovación (España), Ministerio de Educación y Ciencia (España), Manchester Biomedical Research Centre, European Commission, National Institute for Health Research (UK), Wellcome Trust, Cancer Research UK, Medical Research Council (UK), Wellcome Sanger Institute, Gracia-Díaz, Carolina, Zhou, Yijing, Yang, Qian, Maroofian, Reza, España-Bonilla, Paula, Lee, Chul-Hwan, Zhang, Shuo, Padilla, Natàlia, Fueyo, Raquel, Waxman, Elisa A., Lei, Sunyimeng, Otrimski, Garrett, Li, Dong, Sheppard, Sarah E., Mark, Paul, Harr, Margaret H., Hakonarson, Hakon, Rodan, Lance, Jackson, Adam, Vasudevan, Pradeep, Powel, Corrina, Mohammed, Shehla, Maddirevula, Sateesh, Alzaidan, Hamad, Faqeih, Eissa A., Efthymiou, Stephanie, Turchetti, Valentina, Rahman, Fátima, Maqbool, Shazia, Salpietro, Vincenzo, Ibrahim, Shahnaz H., di Rosa, Gabriella, Houlden, Henry, Alharbi, Maha Nasser, Al-Sannaa, Nouriya Abbas, Bauer, Peter, Zifarelli, Giovanni, Estaras, Conchi, Hurst, Anna C. E., Thompson, Michelle L., Chassevent, Anna, Smith-Hicks, Constance L., Cruz, Xavier de la, Holtz, Alexander M., Elloumi, Houda Zghal, Hajianpour, M. J., Rieubland, Claudine, Braun, Dominique, Banka, Siddharth, French, Deborah L., Heller, Elizabeth A., Saade, Murielle, Song, Hongjun, Ming, Guo-Li, Alkuraya, Fowzan S., Agrawal, Pankaj B., Reinberg, Danny, Bhoj, Elizabeth J., Martínez-Balbás, Marian, Akizu, Naiara, National Institutes of Health (US), Ministerio de Economía y Competitividad (España), Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), University of Alabama at Birmingham, Ministerio de Ciencia e Innovación (España), Ministerio de Educación y Ciencia (España), Manchester Biomedical Research Centre, European Commission, National Institute for Health Research (UK), Wellcome Trust, Cancer Research UK, Medical Research Council (UK), Wellcome Sanger Institute, Gracia-Díaz, Carolina, Zhou, Yijing, Yang, Qian, Maroofian, Reza, España-Bonilla, Paula, Lee, Chul-Hwan, Zhang, Shuo, Padilla, Natàlia, Fueyo, Raquel, Waxman, Elisa A., Lei, Sunyimeng, Otrimski, Garrett, Li, Dong, Sheppard, Sarah E., Mark, Paul, Harr, Margaret H., Hakonarson, Hakon, Rodan, Lance, Jackson, Adam, Vasudevan, Pradeep, Powel, Corrina, Mohammed, Shehla, Maddirevula, Sateesh, Alzaidan, Hamad, Faqeih, Eissa A., Efthymiou, Stephanie, Turchetti, Valentina, Rahman, Fátima, Maqbool, Shazia, Salpietro, Vincenzo, Ibrahim, Shahnaz H., di Rosa, Gabriella, Houlden, Henry, Alharbi, Maha Nasser, Al-Sannaa, Nouriya Abbas, Bauer, Peter, Zifarelli, Giovanni, Estaras, Conchi, Hurst, Anna C. E., Thompson, Michelle L., Chassevent, Anna, Smith-Hicks, Constance L., Cruz, Xavier de la, Holtz, Alexander M., Elloumi, Houda Zghal, Hajianpour, M. J., Rieubland, Claudine, Braun, Dominique, Banka, Siddharth, French, Deborah L., Heller, Elizabeth A., Saade, Murielle, Song, Hongjun, Ming, Guo-Li, Alkuraya, Fowzan S., Agrawal, Pankaj B., Reinberg, Danny, Bhoj, Elizabeth J., Martínez-Balbás, Marian, and Akizu, Naiara
- Abstract
Genetic variants in chromatin regulators are frequently found in neurodevelopmental disorders, but their effect in disease etiology is rarely determined. Here, we uncover and functionally define pathogenic variants in the chromatin modifier EZH1 as the cause of dominant and recessive neurodevelopmental disorders in 19 individuals. EZH1 encodes one of the two alternative histone H3 lysine 27 methyltransferases of the PRC2 complex. Unlike the other PRC2 subunits, which are involved in cancers and developmental syndromes, the implication of EZH1 in human development and disease is largely unknown. Using cellular and biochemical studies, we demonstrate that recessive variants impair EZH1 expression causing loss of function effects, while dominant variants are missense mutations that affect evolutionarily conserved aminoacids, likely impacting EZH1 structure or function. Accordingly, we found increased methyltransferase activity leading to gain of function of two EZH1 missense variants. Furthermore, we show that EZH1 is necessary and sufficient for differentiation of neural progenitor cells in the developing chick embryo neural tube. Finally, using human pluripotent stem cell-derived neural cultures and forebrain organoids, we demonstrate that EZH1 variants perturb cortical neuron differentiation. Overall, our work reveals a critical role of EZH1 in neurogenesis regulation and provides molecular diagnosis for previously undefined neurodevelopmental disorders.
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- 2023
23. Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein
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de Boer, Elke, Ockeloen, Charlotte, Kampen, Rosalie, Hampstead, Juliet, Dingemans, Alexander, Rots, Dmitrijs, Lütje, Lukas, Ashraf, Tazeen, Baker, Rachel, Barat-Houari, Mouna, Angle, Brad, Chatron, Nicolas, Denommé-Pichon, Anne-Sophie, Devinsky, Orrin, Dubourg, Christèle, Elmslie, Frances, Elloumi, Houda Zghal, Faivre, Laurence, Fitzgerald-Butt, Sarah, Geneviève, David, Goos, Jacqueline, Helm, Benjamin, Kini, Usha, Lasa-Aranzasti, Amaia, Lesca, Gaetan, Lynch, Sally, Mathijssen, Irene, Mcgowan, Ruth, Monaghan, Kristin, Odent, Sylvie, Pfundt, Rolph, Putoux, Audrey, van Reeuwijk, Jeroen, Santen, Gijs, Sasaki, Erina, Sorlin, Arthur, van der Spek, Peter, Stegmann, Alexander, Swagemakers, Sigrid, Valenzuela, Irene, Viora-Dupont, Eléonore, Vitobello, Antonio, Ware, Stephanie, Wéber, Mathys, Gilissen, Christian, Low, Karen, Fisher, Simon, Dingemans, Alexander J.M., Goos, Jacqueline A.C., Mathijssen, Irene M.J., Santen, Gijs W.E., Stegmann, Alexander P.A., Swagemakers, Sigrid M.A., Vissers, Lisenka E.L.M., Wong, Maggie M.K., Kleefstra, Tjitske, MUMC+: DA KG Lab Specialisten (9), RS: FHML non-thematic output, Pathology, Plastic and Reconstructive Surgery and Hand Surgery, Radboud University [Nijmegen], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Hospices Civils de Lyon (HCL), Institut NeuroMyoGène (INMG), 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), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Agro Dijon, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), CHU Pontchaillou [Rennes], Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), FHU TRANSLAD (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Max Planck Institute for Psycholinguistics, Max-Planck-Gesellschaft, This work was financially supported by Aspasia grants of the Dutch Research Council (015.014.036 to T.K. and 015.014.066 to L.E.L.M.V.), Netherlands Organization for Health Research and Development (91718310 to T.K.), and the Max Planck Society (M.M.K.W., S.E.F.). Individual 4 was sequenced at the Scottish Genomes Partnership. The Scottish Genomes Partnership was funded by the Chief Scientist Office of the Scottish Government Health Directorates (SGP/1) and the Medical Research Council Whole Genome Sequencing for Health and Wealth Initiative (MC/PC/15080). The Deciphering Developmental Disorders study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003). This study makes use of Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources (https://www.deciphergenomics.org/), which is funded by Wellcome. See Deciphering Developmental Disorders study8 or https://www.ddduk.org/access.html for full acknowledgment., Institut Català de la Salut, [de Boer E, Dingemans AJM, Rots D] Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands. Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands. [Ockeloen CW] Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands. [Kampen RA] Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands. [Hampstead JE] Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands. Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, The Netherlands. [Lasa-Aranzasti A] Àrea de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca en Medicina Genètica, Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain, and Vall d'Hebron Barcelona Hospital Campus
- Subjects
Neuroinformatics ,Proteasome Endopeptidase Complex ,[SDV]Life Sciences [q-bio] ,fenómenos genéticos::variación genética::mutación::mutación de sentido erróneo [FENÓMENOS Y PROCESOS] ,Mutation, Missense ,Genotype-phenotype study ,enfermedades musculoesqueléticas::enfermedades óseas::enfermedades óseas del desarrollo [ENFERMEDADES] ,Ossos - Malalties - Aspectes genètics ,ANKRD11 ,All institutes and research themes of the Radboud University Medical Center ,Missense variants ,Intellectual Disability ,Other subheadings::Other subheadings::/genetics [Other subheadings] ,Humans ,Genotype–phenotype study ,Musculoskeletal Diseases::Bone Diseases::Bone Diseases, Developmental [DISEASES] ,Abnormalities, Multiple ,Genetics (clinical) ,[SDV.GEN]Life Sciences [q-bio]/Genetics ,Bone Diseases, Developmental ,Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital Abnormalities::Stomatognathic System Abnormalities::Tooth Abnormalities [DISEASES] ,Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7] ,Otros calificadores::Otros calificadores::/genética [Otros calificadores] ,Tooth Abnormalities ,Neurodevelopmental disorders ,Facies ,Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6] ,KBG syndrome ,Repressor Proteins ,Anomalies cromosòmiques ,Phenotype ,enfermedades y anomalías neonatales congénitas y hereditarias::anomalías congénitas::anomalías del sistema estomatognático::anomalías dentarias [ENFERMEDADES] ,Genetic Phenomena::Genetic Variation::Mutation::Mutation, Missense [PHENOMENA AND PROCESSES] ,Chromosome Deletion ,Dents - Malformacions - Aspectes genètics ,Transcription Factors - Abstract
KBG syndrome; Missense variants; Neurodevelopmental disorders Síndrome KBG; Variants de missense; Trastorns del neurodesenvolupament Síndrome KBG; Variantes de missense; Trastornos del neurodesarrollo Purpose Although haploinsufficiency of ANKRD11 is among the most common genetic causes of neurodevelopmental disorders, the role of rare ANKRD11 missense variation remains unclear. We characterized clinical, molecular, and functional spectra of ANKRD11 missense variants. Methods We collected clinical information of individuals with ANKRD11 missense variants and evaluated phenotypic fit to KBG syndrome. We assessed pathogenicity of variants through in silico analyses and cell-based experiments. Results We identified 20 unique, mostly de novo, ANKRD11 missense variants in 29 individuals, presenting with syndromic neurodevelopmental disorders similar to KBG syndrome caused by ANKRD11 protein truncating variants or 16q24.3 microdeletions. Missense variants significantly clustered in repression domain 2 at the ANKRD11 C-terminus. Of the 10 functionally studied missense variants, 6 reduced ANKRD11 stability. One variant caused decreased proteasome degradation and loss of ANKRD11 transcriptional activity. Conclusion Our study indicates that pathogenic heterozygous ANKRD11 missense variants cause the clinically recognizable KBG syndrome. Disrupted transrepression capacity and reduced protein stability each independently lead to ANKRD11 loss-of-function, consistent with haploinsufficiency. This highlights the diagnostic relevance of ANKRD11 missense variants, but also poses diagnostic challenges because the KBG-associated phenotype may be mild and inherited pathogenic ANKRD11 (missense) variants are increasingly observed, warranting stringent variant classification and careful phenotyping.
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- 2022
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24. Phenotypic continuum ofNFU1‐related disorders
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Kaiyrzhanov, Rauan, primary, Zaki, Maha S., additional, Lau, Tracy, additional, Sen, Sambuddha, additional, Azizimalamiri, Reza, additional, Zamani, Mina, additional, Sayin, Gözde Yeşil, additional, Hilander, Taru, additional, Efthymiou, Stephanie, additional, Chelban, Viorica, additional, Brown, Ruth, additional, Thompson, Kyle, additional, Scarano, Maria Irene, additional, Ganesh, Jaya, additional, Koneev, Kairgali, additional, Gülaçar, Ismail Musab, additional, Person, Richard, additional, Sadykova, Dinara, additional, Maidyrov, Yerdan, additional, Seifi, Tahereh, additional, Zadagali, Aizhan, additional, Bernard, Geneviève, additional, Allis, Katrina, additional, Elloumi, Houda Zghal, additional, Lindy, Amanda, additional, Taghiabadi, Ehsan, additional, Verma, Sumit, additional, Logan, Rachel, additional, Kirmse, Brian, additional, Bai, Renkui, additional, Khalaf, Shaimaa M., additional, Abdel‐Hamid, Mohamed S., additional, Sedaghat, Alireza, additional, Shariati, Gholamreza, additional, Issa, Mahmoud, additional, Zeighami, Jawaher, additional, Elbendary, Hasnaa M., additional, Brown, Garry, additional, Taylor, Robert W., additional, Galehdari, Hamid, additional, Gleeson, Joseph J., additional, Carroll, Christopher J., additional, Cowan, James A., additional, Moreno‐De‐Luca, Andres, additional, Houlden, Henry, additional, and Maroofian, Reza, additional
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- 2022
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25. Deleterious, protein-altering variants in the X-linked transcriptional coregulator ZMYM3 in 22 individuals with a neurodevelopmental delay phenotype
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Hiatt, Susan M., primary, Trajkova, Slavica, additional, Sebastiano, Matteo Rossi, additional, Partridge, E. Christopher, additional, Abidi, Fatima E., additional, Anderson, Ashlyn, additional, Ansar, Muhammad, additional, Antonarakis, Stylianos E., additional, Azadi, Azadeh, additional, Bachmann-Gagescu, Ruxandra, additional, Bartuli, Andrea, additional, Benech, Caroline, additional, Berkowitz, Jennifer L., additional, Betti, Michael J., additional, Brusco, Alfredo, additional, Cannon, Ashley, additional, Caron, Giulia, additional, Chen, Yanmin, additional, Crenshaw, Molly M., additional, Cuisset, Laurence, additional, Curry, Cynthia J., additional, Darvish, Hossein, additional, Demirdas, Serwet, additional, Descartes, Maria, additional, Douglas, Jessica, additional, Dyment, David A., additional, Elloumi, Houda Zghal, additional, Ermondi, Giuseppe, additional, Faoucher, Marie, additional, Farrow, Emily G., additional, Felker, Stephanie A., additional, Fisher, Heather, additional, Hurst, Anna C. E., additional, Joset, Pascal, additional, Kmoch, Stanislav, additional, Leadem, Benjamin R., additional, Macchiaiolo, Marina, additional, Magner, Martin, additional, Mandrile, Giorgia, additional, Mattioli, Francesca, additional, McEown, Megan, additional, Meadows, Sarah K., additional, Medne, Livija, additional, Meeks, Naomi J. L., additional, Montgomery, Sarah, additional, Napier, Melanie P., additional, Natowicz, Marvin, additional, Newberry, Kimberly M., additional, Niceta, Marcello, additional, Noskova, Lenka, additional, Nowak, Catherine, additional, Noyes, Amanda G., additional, Osmond, Matthew, additional, Pullano, Verdiana, additional, Quélin, Chloé, additional, Rahimi-Aliabadi, Simin, additional, Rauch, Anita, additional, Redon, Sylvia, additional, Reymond, Alexandre, additional, Schwager, Caitlin R., additional, Sellars, Elizabeth A., additional, Scheuerle, Angela, additional, Shukarova-Angelovska, Elena, additional, Skraban, Cara, additional, Sullivan, Bonnie R., additional, Tartaglia, Marco, additional, Thiffault, Isabelle, additional, Uguen, Kevin, additional, Umaña, Luis A., additional, van Bever, Yolande, additional, van der Crabben, Saskia N., additional, van Slegtenhorst, Marjon A., additional, Waisfisz, Quinten, additional, Myers, Richard M., additional, and Cooper, Gregory M., additional
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- 2022
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26. The commercial genetic testing landscape for Parkinson's disease
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Brice, Alexis, Kumeh, Amasi, West, Andrew B., Singleton, Andrew, Naito, Anna, Schüle, Birgitt, Fiske, Brian, Gabbert, Carolin, Klein, Christine, Marras, Connie, Blauwendraat, Cornelis, Thaxton, Courtney, Alessi, Dario, Craig, David, Fon, Edward A., Forbes, Emily, Valente, Enza Maria, Sammler, Esther, Chao, Gill, Riboldi, Giulietta, Elloumi, Houda Zghal, Mata, Ignacio, Beck, James C., Fong, Jamie C., Corvol, Jean-Christophe, Schulze, Jeanine, Verbrugge, Jennifer, Shulman, Joshua, Peterschmitt, Judith, Marder, Karen, Lohmann, Katja, Nudelman, Kelly, Lange, Lara, Cook, Lola, Cookson, Mark R., Nance, Martha, Farrer, Matthew, Grigorian, Melina, Schwarzschild, Michael A., Mencacci, Niccolo, Ross, Owen, Mistry, Pramod, Hodges, Priscila, Blake, Rachel, Saunders-Pullman, Rachel, Alcalay, Roy N., Sardi, S. Pablo, Farhan, Sali, Strom, Samuel, Padmanabhan, Shalini, Mohan, Shruthi, Longerich, Simonne, Schneider, Susanne, Lesage, Suzanne, Bardakjian, Tanya, Foroud, Tatiana, Courtin, Thomas, Tropea, Thomas, Liu, Yunlong, Gan-Or, Ziv, Shalash, Ali S., Hall, Anne, Thaler, Avner, Sue, Carolyn M., Mascalzoni, Deborah, Raymond, Deborah, Gatto, Emilia Mabel, Pal, Gian D., König, Inke, Novakovic, Ivana, Merello, Marcelo, Salari, Mehri, Mencacci, Niccolo Emanuele, Hattori, Nobutaka, Suchowersky, Oksana, Bardien, Soraya, Chung, Sun Ju, Simuni, Tatyana, Lynch, Timothy, Bonifati, Vincenzo, and Marder, Karen S.
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- 2021
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27. Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia
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Vinh, Donald C., Patel, Smita Y., Uzel, Gulbu, Anderson, Victoria L., Freeman, Alexandra F., Olivier, Kenneth N., Spalding, Christine, Hughes, Stephen, Pittaluga, Stefania, Raffeld, Mark, Sorbara, Lynn R., Elloumi, Houda Z., Kuhns, Douglas B., Turner, Maria L., Cowen, Edward W., Fink, Danielle, Long-Priel, Debra, Hsu, Amy P., Ding, Li, Paulson, Michelle L., Whitney, Adeline R., Sampaio, Elizabeth P., Frucht, David M., DeLeo, Frank R., and Holland, Steven M.
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- 2010
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28. The commercial genetic testing landscape for Parkinson's disease
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Cook, Lola, primary, Schulze, Jeanine, additional, Verbrugge, Jennifer, additional, Beck, James C., additional, Marder, Karen S., additional, Saunders-Pullman, Rachel, additional, Klein, Christine, additional, Naito, Anna, additional, Alcalay, Roy N., additional, Brice, Alexis, additional, Kumeh, Amasi, additional, West, Andrew B., additional, Singleton, Andrew, additional, Schüle, Birgitt, additional, Fiske, Brian, additional, Gabbert, Carolin, additional, Marras, Connie, additional, Blauwendraat, Cornelis, additional, Thaxton, Courtney, additional, Alessi, Dario, additional, Craig, David, additional, Fon, Edward A., additional, Forbes, Emily, additional, Valente, Enza Maria, additional, Sammler, Esther, additional, Chao, Gill, additional, Riboldi, Giulietta, additional, Elloumi, Houda Zghal, additional, Mata, Ignacio, additional, Fong, Jamie C., additional, Corvol, Jean-Christophe, additional, Shulman, Joshua, additional, Peterschmitt, Judith, additional, Marder, Karen, additional, Lohmann, Katja, additional, Nudelman, Kelly, additional, Lange, Lara, additional, Cook, Lola, additional, Cookson, Mark R., additional, Nance, Martha, additional, Farrer, Matthew, additional, Grigorian, Melina, additional, Schwarzschild, Michael A., additional, Mencacci, Niccolo, additional, Ross, Owen, additional, Mistry, Pramod, additional, Hodges, Priscila, additional, Blake, Rachel, additional, Sardi, S. Pablo, additional, Farhan, Sali, additional, Strom, Samuel, additional, Padmanabhan, Shalini, additional, Mohan, Shruthi, additional, Longerich, Simonne, additional, Schneider, Susanne, additional, Lesage, Suzanne, additional, Bardakjian, Tanya, additional, Foroud, Tatiana, additional, Courtin, Thomas, additional, Tropea, Thomas, additional, Liu, Yunlong, additional, Gan-Or, Ziv, additional, Shalash, Ali S., additional, Hall, Anne, additional, Thaler, Avner, additional, Sue, Carolyn M., additional, Mascalzoni, Deborah, additional, Raymond, Deborah, additional, Gatto, Emilia Mabel, additional, Pal, Gian D., additional, König, Inke, additional, Novakovic, Ivana, additional, Merello, Marcelo, additional, Salari, Mehri, additional, Mencacci, Niccolo Emanuele, additional, Hattori, Nobutaka, additional, Suchowersky, Oksana, additional, Bardien, Soraya, additional, Chung, Sun Ju, additional, Simuni, Tatyana, additional, Lynch, Timothy, additional, and Bonifati, Vincenzo, additional
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- 2021
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29. Complex regulation of human cathelicidin gene expression: Novel splice variants and 5′UTR negative regulatory element
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Elloumi, Houda Zghal and Holland, Steven M.
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- 2008
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30. EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum
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H��ffmeier, Ulrike, Kraus, Cornelia, Reuter, Miriam S, Uebe, Steffen, Abbott, Mary-Alice, Ahmed, Syed A, Rawson, Kristyn L, Barr, Eileen, Li, Hong, Bruel, Ange-Line, Faivre, Laurence, Tran Mau-Them, Fr��d��ric, Botti, Christina, Brooks, Susan, Burns, Kaitlyn, Ward, D Isum, Dutra-Clarke, Marina, Martinez-Agosto, Julian A, Lee, Hane, Nelson, Stanley F, Zacher, Pia, Abou Jamra, Rami, Kl��ckner, Chiara, McGaughran, Julie, Kohlhase, J��rgen, Schuhmann, Sarah, Moran, Ellen, Pappas, John, Raas-Rothschild, Annick, Sacoto, Maria J Guillen, Henderson, Lindsay B, Palculict, Timothy Blake, Mullegama, Sureni V, Zghal Elloumi, Houda, Reich, Adi, Schrier Vergano, Samantha A, Wahl, Erica, Reis, Andr��, and Zweier, Christiane
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Cleft Lip ,Eukaryotic Initiation Factor-3 ,Research ,EIF3F gene ,610 Medicine & health ,Deafness ,Cleft Palate ,Short stature ,Neurodevelopmental disorder ,Neurodevelopmental Disorders ,Intellectual Disability ,Microcephaly ,Behavioral difficulties ,Humans ,Altered muscular tone ,ddc:610 - Abstract
Background An identical homozygous missense variant in EIF3F, identified through a large-scale genome-wide sequencing approach, was reported as causative in nine individuals with a neurodevelopmental disorder, characterized by variable intellectual disability, epilepsy, behavioral problems and sensorineural hearing-loss. To refine the phenotypic and molecular spectrum of EIF3F-related neurodevelopmental disorder, we examined independent patients. Results 21 patients were homozygous and one compound heterozygous for c.694T>G/p.(Phe232Val) in EIF3F. Haplotype analyses in 15 families suggested that c.694T>G/p.(Phe232Val) was a founder variant. All affected individuals had developmental delays including delayed speech development. About half of the affected individuals had behavioral problems, altered muscular tone, hearing loss, and short stature. Moreover, this study suggests that microcephaly, reduced sensitivity to pain, cleft lip/palate, gastrointestinal symptoms and ophthalmological symptoms are part of the phenotypic spectrum. Minor dysmorphic features were observed, although neither the individuals’ facial nor general appearance were obviously distinctive. Symptoms in the compound heterozygous individual with an additional truncating variant were at the severe end of the spectrum in regard to motor milestones, speech delay, organic problems and pre- and postnatal growth of body and head, suggesting some genotype–phenotype correlation. Conclusions Our study refines the phenotypic and expands the molecular spectrum of EIF3F-related syndromic neurodevelopmental disorder. Supplementary Information The online version contains supplementary material available at 10.1186/s13023-021-01744-1.
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- 2021
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31. Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy
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Moreno-De-Luca, Andrés, primary, Millan, Francisca, additional, Pesacreta, Denis R., additional, Elloumi, Houda Z., additional, Oetjens, Matthew T., additional, Teigen, Claire, additional, Wain, Karen E., additional, Scuffins, Julie, additional, Myers, Scott M., additional, Torene, Rebecca I., additional, Gainullin, Vladimir G., additional, Arvai, Kevin, additional, Kirchner, H. Lester, additional, Ledbetter, David H., additional, Retterer, Kyle, additional, and Martin, Christa L., additional
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- 2021
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32. Impaired [T.sub.H]17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome
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Milnert, Joshua D., Brenchley, Jason M., Laurence, Arian, Freeman, Alexandra F., Hills, Brenna J., Elias, Kevin M., Kanno, Yuka, Spalding, Christine, Elloumi, Houda Z., Paulson, Michelle L., Davis, Joie, Hsu, Amy, Asher, Ava I., O'Shea, John, Holland, Steven M., Paul, William E., and Douek, Daniel C.
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T cells -- Physiological aspects -- Health aspects -- Research -- Genetic aspects ,Phagocyte bactericidal dysfunction -- Genetic aspects -- Complications and side effects -- Research -- Risk factors ,Infection -- Risk factors -- Genetic aspects -- Research -- Complications and side effects ,Interleukins -- Physiological aspects -- Health aspects -- Research ,Environmental issues ,Science and technology ,Zoology and wildlife conservation ,Complications and side effects ,Physiological aspects ,Genetic aspects ,Research ,Risk factors ,Health aspects - Abstract
The autosomal dominant hyper-IgE syndrome (HIES, 'Job's syndrome') is characterized by recurrent and often severe pulmonary infections, pneumatoceles, eczema, staphylococcal abscesses, mucocutaneous candidiasis, and abnormalities of bone and connective tissue [...]
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- 2008
33. Diagnostic Assays for Chronic Granulomatous Disease and Other Neutrophil Disorders
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Elloumi, Houda Zghal, primary and Holland, Steven M., additional
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- 2014
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34. Early-onset phenotype of bi-allelic GRN mutations
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Neuray, Caroline, primary, Sultan, Tipu, additional, Alvi, Javeira Raza, additional, Franca, Marcondes C, additional, Assmann, Birgit, additional, Wagner, Matias, additional, Canafoglia, Laura, additional, Franceschetti, Silvana, additional, Rossi, Giacomina, additional, Santana, Isabel, additional, Macario, Maria C, additional, Almeida, Maria R, additional, Kamate, Mahesh, additional, Parikh, Sumit, additional, Elloumi, Houda Zghal, additional, Murphy, David, additional, Efthymiou, Stephanie, additional, Maroofian, Reza, additional, and Houlden, Henry, additional
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- 2020
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35. EIF3F-related neurodevelopmental disorder: delineating and expanding the phenotypic and molecular spectrum
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Hueffmeier, Ulrike, primary, Kraus, Cornelia, additional, Reuter, Miriam, additional, Uebe, Steffen, additional, Abbott, Mary-Alice, additional, Ahmed, Syed, additional, Rawson, Kristyn, additional, Barr, Eileen, additional, Li, Hong, additional, bruel, ange-line, additional, Faivre, Laurence, additional, Them, Frederic Tran Mau, additional, Botti, Christina, additional, Brooks, Susan, additional, Burns, Kaitlyn, additional, Ward, Isum, additional, Dutra-Clarke, Marina, additional, Martinez-Agosto, Julian, additional, Lee, Hane, additional, Nelson, Stanley, additional, Disease, UCLA California Center for Rare, additional, Zacher, Pia, additional, Jamra, Rami Abou, additional, Klöckner, Chiara, additional, MacGaughran, Julie, additional, Kohlhase, Juergen, additional, Schuhmann, Sarah, additional, Moran, Ellen, additional, Pappas, John, additional, Rothschild, Annick, additional, Sacoto, Maria Guillen, additional, Henderson, Lindsay, additional, Palculict, Timothy, additional, Mullegama, Sureni, additional, Elloumi, Houda, additional, Reich, Adi, additional, Vergano, Samantha Schrier, additional, Wahl, Erica, additional, Reis, André, additional, and Zweier, Christiane, additional
- Published
- 2020
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36. Diagnostic Assays for Chronic Granulomatous Disease and Other Neutrophil Disorders
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Elloumi, Houda Zghal, primary and Holland, Steven M., additional
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- 2007
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37. Mycobacterium abscessus and M. avium Trigger Toll-Like Receptor 2 and Distinct Cytokine Response in Human Cells
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Sampaio, Elizabeth P., Elloumi, Houda Z., Zelazny, Adrian, Ding, Li, Paulson, Michelle L., Sher, Alan, Bafica, Andre L., Shea, Yvonne R., and Holland, Steven M.
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- 2008
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38. Impaired TH17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome
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Milner, Joshua D., Brenchley, Jason M., Laurence, Arian, Freeman, Alexandra F., Hill, Brenna J., Elias, Kevin M., Kanno, Yuka, Spalding, Christine, Elloumi, Houda Z., Paulson, Michelle L., Davis, Joie, Hsu, Amy, Asher, Ava I., O'Shea, John, Holland, Steven M., Paul, William E., and Douek, Daniel C.
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- 2008
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39. Missense variants in ANKRD11cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein
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de Boer, Elke, Ockeloen, Charlotte W., Kampen, Rosalie A., Hampstead, Juliet E., Dingemans, Alexander J.M., Rots, Dmitrijs, Lütje, Lukas, Ashraf, Tazeen, Baker, Rachel, Barat-Houari, Mouna, Angle, Brad, Chatron, Nicolas, Denommé-Pichon, Anne-Sophie, Devinsky, Orrin, Dubourg, Christèle, Elmslie, Frances, Elloumi, Houda Zghal, Faivre, Laurence, Fitzgerald-Butt, Sarah, Geneviève, David, Goos, Jacqueline A.C., Helm, Benjamin M., Kini, Usha, Lasa-Aranzasti, Amaia, Lesca, Gaetan, Lynch, Sally A., Mathijssen, Irene M.J., McGowan, Ruth, Monaghan, Kristin G., Odent, Sylvie, Pfundt, Rolph, Putoux, Audrey, van Reeuwijk, Jeroen, Santen, Gijs W.E., Sasaki, Erina, Sorlin, Arthur, van der Spek, Peter J., Stegmann, Alexander P.A., Swagemakers, Sigrid M.A., Valenzuela, Irene, Viora-Dupont, Eléonore, Vitobello, Antonio, Ware, Stephanie M., Wéber, Mathys, Gilissen, Christian, Low, Karen J., Fisher, Simon E., Vissers, Lisenka E.L.M., Wong, Maggie M.K., and Kleefstra, Tjitske
- Abstract
Although haploinsufficiency of ANKRD11is among the most common genetic causes of neurodevelopmental disorders, the role of rare ANKRD11missense variation remains unclear. We characterized clinical, molecular, and functional spectra of ANKRD11missense variants.
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- 2022
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40. STAT3 Mutations in the Hyper-IgE Syndrome
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Holland, Steven M., DeLeo, Frank R., Elloumi, Houda Z., Hsu, Amy P., Uzel, Gulbu, Brodsky, Nina, Freeman, Alexandra F., Demidowich, Andrew, Davis, Joie, Turner, Maria L., Anderson, Victoria L., Darnell, Dirk N., Welch, Pamela A., Kuhns, Douglas B., Frucht, David M., Malech, Harry L., Gallin, John I., Kobayashi, Scott D., Whitney, Adeline R., Voyich, Jovanka M., Musser, James M., Woellner, Cristina, Schaffer, Alejandro A., Puck, Jennifer M., and Grimbacher, Bodo.
- Published
- 2007
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41. Benefits of a Small Gene Panel for CMT in the Era of Genomics (S42.007)
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Elloumi, Houda Zghal, primary, Pickersgill, Courtney Downtain, additional, McKnight, Dee, additional, and Brandt, Tracy, additional
- Published
- 2019
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42. Genetic testing of >1300 patients with cerebral palsy reveals an etiology in one-third of cases, underscoring the need for broad genetic testing and a significant recurrence risk for families. (P4.6-028)
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Millan, Francisca, primary, Elloumi, Houda, additional, Teigen, Claire, additional, Scuffins, Julie, additional, Torene, Rebecca, additional, and McKnight, Dianalee, additional
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- 2019
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43. Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy.
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Moreno-De-Luca, Andrés, Millan, Francisca, Pesacreta, Denis R., Elloumi, Houda Z., Oetjens, Matthew T., Teigen, Claire, Wain, Karen E., Scuffins, Julie, Myers, Scott M., Torene, Rebecca I., Gainullin, Vladimir G., Arvai, Kevin, Kirchner, H. Lester, Ledbetter, David H., Retterer, Kyle, and Martin, Christa L.
- Subjects
GENETIC mutation ,GENETICS ,CROSS-sectional method ,GENETIC testing ,RETROSPECTIVE studies ,DISEASE prevalence ,RESEARCH funding ,CEREBRAL palsy ,DISEASE complications - Abstract
Importance: Cerebral palsy is a common neurodevelopmental disorder affecting movement and posture that often co-occurs with other neurodevelopmental disorders. Individual cases of cerebral palsy are often attributed to birth asphyxia; however, recent studies indicate that asphyxia accounts for less than 10% of cerebral palsy cases.Objective: To determine the molecular diagnostic yield of exome sequencing (prevalence of pathogenic and likely pathogenic variants) in individuals with cerebral palsy.Design, Setting, and Participants: A retrospective cohort study of patients with cerebral palsy that included a clinical laboratory referral cohort with data accrued between 2012 and 2018 and a health care-based cohort with data accrued between 2007 and 2017.Exposures: Exome sequencing with copy number variant detection.Main Outcomes and Measures: The primary outcome was the molecular diagnostic yield of exome sequencing.Results: Among 1345 patients from the clinical laboratory referral cohort, the median age was 8.8 years (interquartile range, 4.4-14.7 years; range, 0.1-66 years) and 601 (45%) were female. Among 181 patients in the health care-based cohort, the median age was 41.9 years (interquartile range, 28.0-59.6 years; range, 4.8-89 years) and 96 (53%) were female. The molecular diagnostic yield of exome sequencing was 32.7% (95% CI, 30.2%-35.2%) in the clinical laboratory referral cohort and 10.5% (95% CI, 6.0%-15.0%) in the health care-based cohort. The molecular diagnostic yield ranged from 11.2% (95% CI, 6.4%-16.2%) for patients without intellectual disability, epilepsy, or autism spectrum disorder to 32.9% (95% CI, 25.7%-40.1%) for patients with all 3 comorbidities. Pathogenic and likely pathogenic variants were identified in 229 genes (29.5% of 1526 patients); 86 genes were mutated in 2 or more patients (20.1% of 1526 patients) and 10 genes with mutations were independently identified in both cohorts (2.9% of 1526 patients).Conclusions and Relevance: Among 2 cohorts of patients with cerebral palsy who underwent exome sequencing, the prevalence of pathogenic and likely pathogenic variants was 32.7% in a cohort that predominantly consisted of pediatric patients and 10.5% in a cohort that predominantly consisted of adult patients. Further research is needed to understand the clinical implications of these findings. [ABSTRACT FROM AUTHOR]- Published
- 2021
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44. Biallelic variants in KARS1are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish
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Lin, Sheng-Jia, Vona, Barbara, Barbalho, Patricia G., Kaiyrzhanov, Rauan, Maroofian, Reza, Petree, Cassidy, Severino, Mariasavina, Stanley, Valentina, Varshney, Pratishtha, Bahena, Paulina, Alzahrani, Fatema, Alhashem, Amal, Pagnamenta, Alistair T., Aubertin, Gudrun, Estrada-Veras, Juvianee I., Hernández, Héctor Adrián Díaz, Mazaheri, Neda, Oza, Andrea, Thies, Jenny, Renaud, Deborah L., Dugad, Sanmati, McEvoy, Jennifer, Sultan, Tipu, Pais, Lynn S., Tabarki, Brahim, Villalobos-Ramirez, Daniel, Rad, Aboulfazl, Ambrose, J.C., Arumugam, P., Bleda, M., Boardman-Pretty, F., Boustred, C.R., Brittain, H., Caulfield, M.J., Chan, G.C., Fowler, T., Giess, A., Hamblin, A., Henderson, S., Hubbard, T.J.P., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., O‘Donovan, P., Odhams, C.A., Patch, C., Perez-Gil, D., Pereira, M.B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smith, S.C., Sosinsky, A., Stuckey, A., Tanguy, M., Thomas, E.R.A., Thompson, S.R., Tucci, A., Walsh, E., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Galehdari, Hamid, Ashrafzadeh, Farah, Sahebzamani, Afsaneh, Saeidi, Kolsoum, Torti, Erin, Elloumi, Houda Z., Mora, Sara, Palculict, Timothy B., Yang, Hui, Wren, Jonathan D., Fowler, Ben, Joshi, Manali, Behra, Martine, Burgess, Shawn M., Nath, Swapan K., Hanna, Michael G., Kenna, Margaret, Merritt, J. Lawrence, Houlden, Henry, Karimiani, Ehsan Ghayoor, Zaki, Maha S., Haaf, Thomas, Alkuraya, Fowzan S., Gleeson, Joseph G., and Varshney, Gaurav K.
- Abstract
Pathogenic variants in Lysyl-tRNA synthetase 1 (KARS1) have increasingly been recognized as a cause of early-onset complex neurological phenotypes. To advance the timely diagnosis of KARS1-related disorders, we sought to delineate its phenotype and generate a disease model to understand its function in vivo.
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- 2021
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45. Biallelic variation in the choline and ethanolamine transporter FLVCR1underlies a severe developmental disorder spectrum
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Calame, Daniel G., Wong, Jovi Huixin, Panda, Puravi, Nguyen, Dat Tuan, Leong, Nancy C.P., Sangermano, Riccardo, Patankar, Sohil G., Abdel-Hamid, Mohamed S., AlAbdi, Lama, Safwat, Sylvia, Flannery, Kyle P., Dardas, Zain, Fatih, Jawid M., Murali, Chaya, Kannan, Varun, Lotze, Timothy E., Herman, Isabella, Ammouri, Farah, Rezich, Brianna, Efthymiou, Stephanie, Alavi, Shahryar, Murphy, David, Firoozfar, Zahra, Nasab, Mahya Ebrahimi, Bahreini, Amir, Ghasemi, Majid, Haridy, Nourelhoda A., Goldouzi, Hamid Reza, Eghbal, Fatemeh, Karimiani, Ehsan Ghayoor, Begtrup, Amber, Elloumi, Houda, Srinivasan, Varunvenkat M., Gowda, Vykuntaraju K., Du, Haowei, Jhangiani, Shalini N., Coban-Akdemir, Zeynep, Marafi, Dana, Rodan, Lance, Isikay, Sedat, Rosenfeld, Jill A., Ramanathan, Subhadra, Staton, Michael, Oberg, Kerby C., Clark, Robin D., Wenman, Catharina, Loughlin, Sam, Saad, Ramy, Ashraf, Tazeen, Male, Alison, Tadros, Shereen, Boostani, Reza, Abdel-Salam, Ghada M.H., Zaki, Maha, Mardi, Ali, Hashemi-Gorji, Farzad, Abdalla, Ebtesam, Manzini, M. Chiara, Pehlivan, Davut, Posey, Jennifer E., Gibbs, Richard A., Houlden, Henry, Alkuraya, Fowzan S., Bujakowska, Kinga, Maroofian, Reza, Lupski, James R., and Nguyen, Long Nam
- Abstract
FLVCR1encodes a solute carrier protein implicated in heme, choline, and ethanolamine transport. Although Flvcr1−/−mice exhibit skeletal malformations and defective erythropoiesis reminiscent of Diamond-Blackfan anemia (DBA), biallelic FLVCR1variants in humans have previously only been linked to childhood or adult-onset ataxia, sensory neuropathy, and retinitis pigmentosa.
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- 2024
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46. Missense variants in ANKRD11cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein
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de Boer, Elke, Ockeloen, Charlotte W., Kampen, Rosalie A., Hampstead, Juliet E., Dingemans, Alexander J.M., Rots, Dmitrijs, Lütje, Lukas, Ashraf, Tazeen, Baker, Rachel, Barat-Houari, Mouna, Angle, Brad, Chatron, Nicolas, Denommé-Pichon, Anne-Sophie, Devinsky, Orrin, Dubourg, Christèle, Elmslie, Frances, Elloumi, Houda Zghal, Faivre, Laurence, Fitzgerald-Butt, Sarah, Geneviève, David, Goos, Jacqueline A.C., Helm, Benjamin M., Kini, Usha, Lasa-Aranzasti, Amaia, Lesca, Gaetan, Lynch, Sally A., Mathijssen, Irene M.J., McGowan, Ruth, Monaghan, Kristin G., Odent, Sylvie, Pfundt, Rolph, Putoux, Audrey, van Reeuwijk, Jeroen, Santen, Gijs W.E., Sasaki, Erina, Sorlin, Arthur, van der Spek, Peter J., Stegmann, Alexander P.A., Swagemakers, Sigrid M.A., Valenzuela, Irene, Viora-Dupont, Eléonore, Vitobello, Antonio, Ware, Stephanie M., Wéber, Mathys, Gilissen, Christian, Low, Karen J., Fisher, Simon E., Vissers, Lisenka E.L.M., Wong, Maggie M.K., and Kleefstra, Tjitske
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- 2023
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47. A Cell Permeable Peptide Inhibitor of NFAT Inhibits Macrophage Cytokine Expression and Ameliorates Experimental Colitis
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Elloumi, Houda Z., primary, Maharshak, Nitsan, additional, Rao, Kavitha N., additional, Kobayashi, Taku, additional, Ryu, Hyungjin S., additional, Mühlbauer, Marcus, additional, Li, Fengling, additional, Jobin, Christian, additional, and Plevy, Scott E., additional
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- 2012
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48. Early Life Stress Triggers Persistent Colonic Barrier Dysfunction and Exacerbates Colitis in IL-10(-/-) Mice
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Moeser, Adam J., primary, Bond, Shaleea, additional, Russo, Steven, additional, Zghal Elloumi, Houda, additional, and Plevy, Scott E., additional
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- 2011
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49. NFIL3 Is a Regulator of IL-12 p40 in Macrophages and Mucosal Immunity
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Kobayashi, Taku, primary, Matsuoka, Katsuyoshi, additional, Sheikh, Shehzad Z., additional, Elloumi, Houda Z., additional, Kamada, Nobuhiko, additional, Hisamatsu, Tadakazu, additional, Hansen, Jonathan J., additional, Doty, Kevin R., additional, Pope, Scott D., additional, Smale, Stephen T., additional, Hibi, Toshifumi, additional, Rothman, Paul B., additional, Kashiwada, Masaki, additional, and Plevy, Scott E., additional
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- 2011
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50. S1756 The Bzip Protein E4bp4 Mediates IL-10 Regulation of Intestinal Macrophage Tolerance to the Enteric Microbiota
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Kobayashi, Taku, primary, Matsuoka, Katsuyoshi, additional, Sheikh, Shehzad Z., additional, Elloumi, Houda Zghal, additional, and Plevy, Scott E., additional
- Published
- 2010
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