Search

Your search keyword '"Liskova, Petra"' showing total 416 results
Start Over Author "Liskova, Petra"
416 results on '"Liskova, Petra"'

1. Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Author

Hitti-Malin, Rebekkah, Panneman, Daan, Corradi, Zelia, Boonen, Erica, Astuti, Galuh, Dhaenens, Claire-Marie, Stöhr, Heidi, Weber, Bernhard, Sharon, Dror, Banin, Eyal, Karali, Marianthi, Banfi, Sandro, Ben-Yosef, Tamar, Glavač, Damjan, Farrar, G, Ayuso, Carmen, Liskova, Petra, Dudakova, Lubica, Vajter, Marie, Ołdak, Monika, Szaflik, Jacek, Matynia, Anna, Gorin, Michael, Kämpjärvi, Kati, Bauwens, Miriam, De Baere, Elfride, Hoyng, Carel, Li, Catherina, Klaver, Caroline, Inglehearn, Chris, Fujinami, Kaoru, Rivolta, Carlo, Allikmets, Rando, Zernant, Jana, Lee, Winston, Podhajcer, Osvaldo, Fakin, Ana, Sajovic, Jana, AlTalbishi, Alaa, Valeina, Sandra, Taurina, Gita, Vincent, Andrea, Roberts, Lisa, Ramesar, Raj, Sartor, Giovanna, Luppi, Elena, Downes, Susan, van den Born, L, McLaren, Terri, De Roach, John, Lamey, Tina, Thompson, Jennifer, Chen, Fred, Tracewska, Anna, Kamakari, Smaragda, Sallum, Juliana, Bolz, Hanno, Kayserili, Hülya, Roosing, Susanne, and Cremers, Frans

Subjects
inherited, macula, maculopathies, penetrance, retinal, sequencing, Humans, Mutation, Penetrance, Pedigree, Macular Degeneration, Retina, Phenotype, ATP-Binding Cassette Transporters, Eye Proteins, Cadherin Related Proteins, Nerve Tissue Proteins
Abstract

Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region of the retina. To investigate the genetic basis of iMDs, we used single-molecule Molecular Inversion Probes to sequence 105 maculopathy-associated genes in 1352 patients diagnosed with iMDs. Within this cohort, 39.8% of patients were considered genetically explained by 460 different variants in 49 distinct genes of which 73 were novel variants, with some affecting splicing. The top five most frequent causative genes were ABCA4 (37.2%), PRPH2 (6.7%), CDHR1 (6.1%), PROM1 (4.3%) and RP1L1 (3.1%). Interestingly, variants with incomplete penetrance were revealed in almost one-third of patients considered solved (28.1%), and therefore, a proportion of patients may not be explained solely by the variants reported. This includes eight previously reported variants with incomplete penetrance in addition to CDHR1:c.783G>A and CNGB3:c.1208G>A. Notably, segregation analysis was not routinely performed for variant phasing-a limitation, which may also impact the overall diagnostic yield. The relatively high proportion of probands without any putative causal variant (60.2%) highlights the need to explore variants with incomplete penetrance, the potential modifiers of disease and the genetic overlap between iMDs and age-related macular degeneration. Our results provide valuable insights into the genetic landscape of iMDs and warrant future exploration to determine the involvement of other maculopathy genes.

Published
2024

3. Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1

Author

Patterson, Karynne, Chong, Jessica X., Chung, Doug D., Lisch, Walter, Karp, Carol L., Dreisler, Erling, Lockington, David, Rohrbach, Jens M., Garczarczyk-Asim, Dorota, Müller, Thomas, Tuft, Stephen J., Skalicka, Pavlina, Wilnai, Yael, Samra, Nadra Naser, Ibrahim, Ali, Mandel, Hanna, Davidson, Alice E., Liskova, Petra, Aldave, Anthony J., Bamshad, Michael J., and Janecke, Andreas R.

Published
2024
Full Text
View/download PDF

4. Artificial intelligence extension of the OSCAR‐IB criteria

Author

Petzold, Axel, Albrecht, Philipp, Balcer, Laura, Bekkers, Erik, Brandt, Alexander U, Calabresi, Peter A, Deborah, Orla Galvin, Graves, Jennifer S, Green, Ari, Keane, Pearse A, Bijvank, Jenny A Nij, Sander, Josemir W, Paul, Friedemann, Saidha, Shiv, Villoslada, Pablo, Wagner, Siegfried K, Yeh, E Ann, Aktas, Orhan, Antel, Jack, Asgari, Nasrin, Audo, Isabelle, Avasarala, Jagannadha, Avril, Daly, Bagnato, Francesca R, Banwell, Brenda, Bar‐Or, Amit, Behbehani, Raed, Manterola, Arnaldo Belzunce, Bennett, Jeffrey, Benson, Leslie, Bernard, Jacqueline, Bremond‐Gignac, Dominique, Britze, Josefine, Burton, Jodie, Calkwood, Jonathan, Carroll, William, Chandratheva, Arvind, Cohen, Jeffrey, Comi, Giancarlo, Cordano, Christian, Costa, Silvana, Costello, Fiona, Courtney, Ardith, Cruz‐Herranz, Anes, Cutter, Gary, Crabb, David, Delott, Lindsey, De Seze, Jerome, Diem, Ricarda, Dollfuss, Helene, Ayoubi, Nabil K El, Fasser, Christina, Finke, Carsten, Fischer, Dominik, Fitzgerald, Kathryn, Fonseca, Pedro, Frederiksen, Jette L, Frohman, Elliot, Frohman, Teresa, Fujihara, Kazuo, Cuellar, Iñigo Gabilondo, Galetta, Steven, Garcia‐Martin, Elena, Giovannoni, Gavin, Glebauskiene, Brigita, Suárez, Inés González, Jensen, Gorm Pihl, Hamann, Steffen, Hartung, Hans‐Peter, Havla, Joachim, Hemmer, Bernhard, Huang, Su‐Chun, Imitola, Jaime, Jasinskas, Vytautas, Jiang, Hong, Kafieh, Rahele, Kappos, Ludwig, Kardon, Randy, Keegan, David, Kildebeck, Eric, Kim, Ungsoo Samuel, Klistorner, Sasha, Knier, Benjamin, Kolbe, Scott, Korn, Thomas, Krupp, Lauren, Lagrèze, Wolf, Leocani, Letizia, Levin, Netta, Liskova, Petra, Preiningerova, Jana Lizrova, Lorenz, Birgit, May, Eugene, Miller, David, Mikolajczak, Janine, Saïd, Saddek Mohand, Montalban, Xavier, Morrow, Mark, Mowry, Ellen, and Murta, Joaquim

Subjects
Biomedical and Clinical Sciences, Neurosciences, Bioengineering, Biomedical Imaging, Autoimmune Disease, Neurodegenerative, Aging, Brain Disorders, Neurological, Algorithms, Artificial Intelligence, Big Data, Cohort Studies, Humans, Nervous System Diseases, Retina, Tomography, Optical Coherence, IMSVISUAL, ERN-EYE Consortium, Clinical Sciences, Clinical and health psychology
Abstract

Artificial intelligence (AI)-based diagnostic algorithms have achieved ambitious aims through automated image pattern recognition. For neurological disorders, this includes neurodegeneration and inflammation. Scalable imaging technology for big data in neurology is optical coherence tomography (OCT). We highlight that OCT changes observed in the retina, as a window to the brain, are small, requiring rigorous quality control pipelines. There are existing tools for this purpose. Firstly, there are human-led validated consensus quality control criteria (OSCAR-IB) for OCT. Secondly, these criteria are embedded into OCT reporting guidelines (APOSTEL). The use of the described annotation of failed OCT scans advances machine learning. This is illustrated through the present review of the advantages and disadvantages of AI-based applications to OCT data. The neurological conditions reviewed here for the use of big data include Alzheimer disease, stroke, multiple sclerosis (MS), Parkinson disease, and epilepsy. It is noted that while big data is relevant for AI, ownership is complex. For this reason, we also reached out to involve representatives from patient organizations and the public domain in addition to clinical and research centers. The evidence reviewed can be grouped in a five-point expansion of the OSCAR-IB criteria to embrace AI (OSCAR-AI). The review concludes by specific recommendations on how this can be achieved practically and in compliance with existing guidelines.

Published
2021

5. Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability

Author

Corradi, Zelia, Khan, Mubeen, Hitti-Malin, Rebekkah, Mishra, Ketan, Whelan, Laura, Cornelis, Stéphanie S., Hoyng, Carel B., Kämpjärvi, Kati, Klaver, Caroline C.W., Liskova, Petra, Stöhr, Heidi, Weber, Bernhard H.F., Banfi, Sandro, Farrar, G. Jane, Sharon, Dror, Zernant, Jana, Allikmets, Rando, Dhaenens, Claire-Marie, and Cremers, Frans P.M.

Published
2023
Full Text
View/download PDF

6. A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.

Author

Hardcastle, Alison J, Liskova, Petra, Bykhovskaya, Yelena, McComish, Bennet J, Davidson, Alice E, Inglehearn, Chris F, Li, Xiaohui, Choquet, Hélène, Habeeb, Mahmoud, Lucas, Sionne EM, Sahebjada, Srujana, Pontikos, Nikolas, Lopez, Karla E Rojas, Khawaja, Anthony P, Ali, Manir, Dudakova, Lubica, Skalicka, Pavlina, Van Dooren, Bart TH, Geerards, Annette JM, Haudum, Christoph W, Faro, Valeria Lo, Tenen, Abi, Simcoe, Mark J, Patasova, Karina, Yarrand, Darioush, Yin, Jie, Siddiqui, Salina, Rice, Aine, Farraj, Layal Abi, Chen, Yii-Der Ida, Rahi, Jugnoo S, Krauss, Ronald M, Theusch, Elisabeth, Charlesworth, Jac C, Szczotka-Flynn, Loretta, Toomes, Carmel, Meester-Smoor, Magda A, Richardson, Andrea J, Mitchell, Paul A, Taylor, Kent D, Melles, Ronald B, Aldave, Anthony J, Mills, Richard A, Cao, Ke, Chan, Elsie, Daniell, Mark D, Wang, Jie Jin, Rotter, Jerome I, Hewitt, Alex W, MacGregor, Stuart, Klaver, Caroline CW, Ramdas, Wishal D, Craig, Jamie E, Iyengar, Sudha K, O'Brart, David, Jorgenson, Eric, Baird, Paul N, Rabinowitz, Yaron S, Burdon, Kathryn P, Hammond, Chris J, Tuft, Stephen J, and Hysi, Pirro G

Abstract

Keratoconus is characterised by reduced rigidity of the cornea with distortion and focal thinning that causes blurred vision, however, the pathogenetic mechanisms are unknown. It can lead to severe visual morbidity in children and young adults and is a common indication for corneal transplantation worldwide. Here we report the first large scale genome-wide association study of keratoconus including 4,669 cases and 116,547 controls. We have identified significant association with 36 genomic loci that, for the first time, implicate both dysregulation of corneal collagen matrix integrity and cell differentiation pathways as primary disease-causing mechanisms. The results also suggest pleiotropy, with some disease mechanisms shared with other corneal diseases, such as Fuchs endothelial corneal dystrophy. The common variants associated with keratoconus explain 12.5% of the genetic variance, which shows potential for the future development of a diagnostic test to detect susceptibility to disease.

Published
2021

8. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Author

Abbott, Kristin M., Banka, Siddharth, de Boer, Elke, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Denommé-Pichon, Anne-Sophie, Faivre, Laurence, Gilissen, Christian, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jackson, Adam, Kerstjens, Mieke, Kleefstra, Tjitske, Martín, Estrella López, Macek, Milan, Jr., Matalonga, Leslie, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Pizzi, Simone, Posada, Manuel, Radio, Francesca C., Renieri, Alessandra, Riess, Olaf, Rooryck, Caroline, Ryba, Lukas, Agathe, Jean-Madeleine de Sainte, Santen, Gijs W.E., Schwarz, Martin, Tartaglia, Marco, Thauvin, Christel, Torella, Annalaura, Trimouille, Aurélien, Verloes, Alain, Vissers, Lisenka, Vitobello, Antonio, Votypka, Pavel, Zguro, Kristina, Boer, Elke de, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B.A.W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, ‘t Hoen, Peter A.C., Vissers, Lisenka E.L.M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Duffourd, Yannis, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Lišková, Petra, Doležalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Başak, Ayşe Nazlı, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A.L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Radio, Francesca Clementina, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Fallerini, Chiara, Benetti, Elisa, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, Alembik, Yves, Jean-Marçais, Nolwenn, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Safraou, Hana, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, de Vries, Bert B.A., Willemsen, Marjolein H., and Philippe, Christophe

Published
2023
Full Text
View/download PDF

9. Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction

Author

Reurink, Janine, Weisschuh, Nicole, Garanto, Alejandro, Dockery, Adrian, van den Born, L. Ingeborgh, Fajardy, Isabelle, Haer-Wigman, Lonneke, Kohl, Susanne, Wissinger, Bernd, Farrar, G. Jane, Ben-Yosef, Tamar, Pfiffner, Fatma Kivrak, Berger, Wolfgang, Weener, Marianna E., Dudakova, Lubica, Liskova, Petra, Sharon, Dror, Salameh, Manar, Offenheim, Ashley, Heon, Elise, Girotto, Giorgia, Gasparini, Paolo, Morgan, Anna, Bergen, Arthur A., ten Brink, Jacoline B., Klaver, Caroline C.W., Tranebjærg, Lisbeth, Rendtorff, Nanna D., Vermeer, Sascha, Smits, Jeroen J., Pennings, Ronald J.E., Aben, Marco, Oostrik, Jaap, Astuti, Galuh D.N., Galbany, Jordi Corominas, Kroes, Hester Y., Phan, Milan, van Zelst-Stams, Wendy A.G., Thiadens, Alberta A.H.J., Verheij, Joke B.G.M., van Schooneveld, Mary J., de Bruijn, Suzanne E., Li, Catherina H.Z., Hoyng, Carel B., Gilissen, Christian, Vissers, Lisenka E.L.M., Cremers, Frans P.M., Kremer, Hannie, van Wijk, Erwin, and Roosing, Susanne

Published
2023
Full Text
View/download PDF

10. Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease

Author

Bhattacharyya, Nihar, primary, Chai, Niuzheng, additional, Hafford-Tear, Nathaniel J., additional, Sadan, Amanda N., additional, Szabo, Anita, additional, Zarouchlioti, Christina, additional, Jedlickova, Jana, additional, Leung, Szi Kay, additional, Liao, Tianyi, additional, Dudakova, Lubica, additional, Skalicka, Pavlina, additional, Parekh, Mohit, additional, Moghul, Ismail, additional, Jeffries, Aaron R., additional, Cheetham, Michael E., additional, Muthusamy, Kirithika, additional, Hardcastle, Alison J., additional, Pontikos, Nikolas, additional, Liskova, Petra, additional, Tuft, Stephen J., additional, and Davidson, Alice E., additional

Published
2024
Full Text
View/download PDF

11. Diagnosis and classification of optic neuritis

Author

Petzold, Axel, Fraser, Clare L, Abegg, Mathias, Alroughani, Raed, Alshowaeir, Daniah, Alvarenga, Regina, Andris, Cécile, Asgari, Nasrin, Barnett, Yael, Battistella, Roberto, Behbehani, Raed, Berger, Thomas, Bikbov, Mukharram M, Biotti, Damien, Biousse, Valerie, Boschi, Antonella, Brazdil, Milan, Brezhnev, Andrei, Calabresi, Peter A, Cordonnier, Monique, Costello, Fiona, Cruz, Franz M, Cunha, Leonardo Provetti, Daoudi, Smail, Deschamps, Romain, de Seze, Jerome, Diem, Ricarda, Etemadifar, Masoud, Flores-Rivera, Jose, Fonseca, Pedro, Frederiksen, Jette, Frohman, Elliot, Frohman, Teresa, Tilikete, Caroline Froment, Fujihara, Kazuo, Gálvez, Alberto, Gouider, Riadh, Gracia, Fernando, Grigoriadis, Nikolaos, Guajardo, José M, Habek, Mario, Hawlina, Marko, Martínez-Lapiscina, Elena H, Hooker, Juzar, Hor, Jyh Yung, Howlett, William, Huang-Link, Yumin, Idrissova, Zhannat, Illes, Zsolt, Jancic, Jasna, Jindahra, Panitha, Karussis, Dimitrios, Kerty, Emilia, Kim, Ho Jin, Lagrèze, Wolf, Leocani, Letizia, Levin, Netta, Liskova, Petra, Liu, Yaou, Maiga, Youssoufa, Marignier, Romain, McGuigan, Chris, Meira, Dália, Merle, Harold, Monteiro, Mário L R, Moodley, Anand, Moura, Frederico, Muñoz, Silvia, Mustafa, Sharik, Nakashima, Ichiro, Noval, Susana, Oehninger, Carlos, Ogun, Olufunmilola, Omoti, Afekhide, Pandit, Lekha, Paul, Friedemann, Rebolleda, Gema, Reddel, Stephen, Rejdak, Konrad, Rejdak, Robert, Rodriguez-Morales, Alfonso J, Rougier, Marie-Bénédicte, Sa, Maria Jose, Sanchez-Dalmau, Bernardo, Saylor, Deanna, Shatriah, Ismail, Siva, Aksel, Stiebel-Kalish, Hadas, Szatmary, Gabriella, Ta, Linh, Tenembaum, Silvia, Tran, Huy, Trufanov, Yevgen, van Pesch, Vincent, Wang, An-Guor, Wattjes, Mike P, Willoughby, Ernest, Zakaria, Magd, Zvornicanin, Jasmin, Balcer, Laura, and Plant, Gordon T

Published
2022
Full Text
View/download PDF

12. Contributors

Author

Aleman, Tomas S., primary, Amati-Bonneau, Patrizia, additional, Arveiler, Benoît, additional, Ashworth, Jane L., additional, Audo, Isabelle, additional, Bacci, Giacomo M., additional, Balducci, Nicole, additional, Balikova, Irina, additional, Bauwens, Miriam, additional, Barboni, Piero, additional, Birtel, Johannes, additional, Biswas, Susmito, additional, Black, Graeme C.M., additional, Blanchet, Catherine, additional, Bocquet, Béatrice, additional, Boon, Camiel J.F., additional, Brézin, Antoine, additional, Roziers, Cyril Burin des, additional, Burkitt-Wright, Emma, additional, Callea, Michele, additional, Carbonelli, Michele, additional, Carelli, Valerio, additional, Cehajic-Kapetanovic, Jasmina, additional, Chandler, Kate E., additional, Chandra, Aman, additional, Clayton-Smith, Jill, additional, Colijn, Johanna M., additional, Coppieters, Frauke, additional, A. Cukras, Catherine, additional, Daly, Avril, additional, De Baere, Elfride, additional, De Zaeytijd, Julie, additional, Borman, Arundhati Dev, additional, Dollfus, Hélène, additional, Houge, Sofia Douzgou, additional, Engle, Elizabeth C., additional, Escher, Pascal, additional, Evans, D. Gareth, additional, Fahnehjelm, Kristina Teär, additional, Fasser, Christina, additional, Fiore, Mathieu, additional, Fujinami, Kaoru, additional, Fujinami-Yokokawa, Yu, additional, Gallie, Brenda L., additional, Georgiou, Michalis, additional, Gliem, Martin, additional, Grudzinska Pechhacker, Monika K., additional, Hall, Georgina, additional, Harmening, Wolf M., additional, Henderson, Robert H., additional, Héon, Elise, additional, Hirji, Nashila, additional, Holz, Frank G., additional, A. Huryn, Laryssa, additional, Jones, Elizabeth A., additional, Kalatzis, Vasiliki, additional, Khan, Arif O., additional, Kim, Ungsoo S., additional, Klaver, Caroline C.W., additional, Kumaran, Neruban, additional, La Morgia, Chiara, additional, Lalloo, Fiona, additional, Lasseaux, Eulalie, additional, Lee, Helena, additional, Lenaers, Guy, additional, Lenassi, Eva, additional, Leroy, Bart P., additional, Liskova, Petra, additional, Lloyd, I. Christopher, additional, MacLaren, Robert E., additional, Mahroo, Omar A., additional, Mejia-Vergara, Alvaro J., additional, Meunier, Isabelle, additional, Michaelides, Michel, additional, Moore, Anthony T., additional, Moosajee, Mariya, additional, Morice-Picard, Fanny, additional, Munier, Francis L., additional, Neveu, Magella M., additional, O'Neil, Erin C., additional, Nordenström, Anna, additional, Parry, Neil R.A., additional, Patrício, Maria I., additional, Parulekar, Manoj V., additional, Ram, Dipak, additional, Ramsden, Simon C., additional, Robitaille, Johane, additional, Robson, Anthony G., additional, Rothschild, Pierre-Raphaël, additional, Sadun, Alfredo A., additional, Schuerch, Kaspar, additional, Seabra, Miguel C., additional, Self, Jay E., additional, Sergouniotis, Panagiotis I., additional, Shaya, Fadi, additional, Sieving, Paul A., additional, Strubbe, Ine, additional, Simonelli, Francesca, additional, Small, Kent W., additional, Snead, Martin P., additional, Stepien, Karolina M., additional, Talib, Mays, additional, Taylor, Rachel L., additional, Testa, Francesco, additional, Thiadens, Alberta A.H.J., additional, Traboulsi, Elias I., additional, Tran, Viet H., additional, Vaclavik, Veronika, additional, Valleix, Sophie, additional, Van Cauwenbergh, Caroline, additional, Van Schil, Kristof, additional, Whitman, Mary C., additional, Willoughby, Colin E., additional, Xue, Kanmin, additional, Yang, Jingyan, additional, Yu-Wai-Man, Patrick, additional, Zeitz, Christina, additional, and Zinkernagel, Martin, additional

Published
2022
Full Text
View/download PDF

13. Tissue-Specific Dynamics of TCF4 Triplet Repeat Instability Revealed by Optical Genome Mapping

Author

Zarouchlioti, Christina, primary, Efthymiou, Stephanie, additional, Fracchini, Stefano, additional, Dominik, Natalia, additional, Bhattacharyya, Nihar, additional, Liu, Siyin, additional, Abreu Costa, Marcos, additional, Szabo, Anita, additional, Sadan, Amanda N, additional, Jun, Albert, additional, Bugiardini, Enrico, additional, Houlden, Henry, additional, Cortese, Andrea, additional, Skalicka, Pavlina, additional, Dudakova, Lubica, additional, Muthusamy, Kirithika, additional, Cheetham, Michael E, additional, Hardcastle, Alison J, additional, Liskova, Petra, additional, Tuft, Stephen J, additional, and Davidson, Alice, additional

Published
2024
Full Text
View/download PDF

14. Disease-Causing TIMP3 Variants and Deep Phenotyping of Two Czech Families with Sorsby Fundus Dystrophy Associated with Novel p.(Tyr152Cys) Mutation

Author

Vergaro, Andrea, primary, Pankievic, Monika, additional, Jedlickova, Jana, additional, Dudakova, Lubica, additional, Vajter, Marie, additional, Michaelides, Michel, additional, Meliska, Martin, additional, Nemec, Pavel, additional, Babincova, Daniela, additional, Kousal, Bohdan, additional, and Liskova, Petra, additional

Published
2024
Full Text
View/download PDF

15. Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy

Author

Dudakova, Lubica, primary, Noskova, Lenka, additional, Kmoch, Stanislav, additional, Filipec, Martin, additional, Filous, Ales, additional, Davidson, Alice E., additional, Toulis, Vasileios, additional, Jedlickova, Jana, additional, Skalicka, Pavlina, additional, Hartmannova, Hana, additional, Stranecky, Viktor, additional, Drabova, Jana, additional, Novotna, Drahuse, additional, Havlovicova, Marketa, additional, Sedlacek, Zdenek, additional, and Liskova, Petra, additional

Published
2024
Full Text
View/download PDF

16. Blau Syndrome: Challenging Molecular Genetic Diagnostics of Autoinflammatory Disease.

Author

Brichova, Michaela, Klimova, Aneta, Heissigerova, Jarmila, Svozilkova, Petra, Vaneckova, Manuela, Dolezalova, Pavla, Nemcova, Dana, Michalickova, Marcela, Jedlickova, Jana, Dudakova, Lubica, and Liskova, Petra

Subjects
AUTOINFLAMMATORY diseases, MOLECULAR diagnosis, CONSCIOUSNESS raising, SYMPTOMS, SYNDROMES
Abstract

The aim of this study was to describe the clinical and molecular genetic findings in seven individuals from three unrelated families with Blau syndrome. A complex ophthalmic and general health examination including diagnostic imaging was performed. The NOD2 mutational hot spot located in exon 4 was Sanger sequenced in all three probands. Two individuals also underwent autoinflammatory disorder gene panel screening, and in one subject, exome sequencing was performed. Blau syndrome presenting as uveitis, skin rush or arthritis was diagnosed in four cases from three families. In two individuals from one family, only camptodactyly was noted, while another member had camptodactyly in combination with non-active uveitis and angioid streaks. One proband developed two attacks of meningoencephalitis attributed to presumed neurosarcoidosis, which is a rare finding in Blau syndrome. The probands from families 1 and 2 carried pathogenic variants in NOD2 (NM_022162.3): c.1001G>A p.(Arg334Gln) and c.1000C>T p.(Arg334Trp), respectively. In family 3, two variants of unknown significance in a heterozygous state were found: c.1412G>T p.(Arg471Leu) in NOD2 and c.928C>T p.(Arg310*) in NLRC4 (NM_001199139.1). In conclusion, Blau syndrome is a phenotypically highly variable, and there is a need to raise awareness about all clinical manifestations, including neurosarcoidosis. Variants of unknown significance pose a significant challenge regarding their contribution to etiopathogenesis of autoinflammatory diseases. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

17. Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data

Author

Cipriani, Valentina, primary, Vestito, Letizia, additional, Magavern, Emma F, additional, Jacobsen, Julius OB, additional, Arno, Gavin, additional, Behr, Elijah R, additional, Benson, Katherine A, additional, Bertoli, Marta, additional, Bockenhauer, Detlef, additional, Bowl, Michael R, additional, Burley, Kate, additional, Chan, Li F, additional, Chinnery, Patrick, additional, Conlon, Peter, additional, Costa, Marcos, additional, Davidson, Alice E, additional, Dawson, Sally J, additional, Elhassan, Elhussein, additional, Flanagan, Sarah E, additional, Futema, Marta, additional, Gale, Daniel P, additional, García-Ruiz, Sonia, additional, Corcia, Cecilia Gonzalez, additional, Griffin, Helen R, additional, Hambleton, Sophie, additional, Hicks, Amy R, additional, Houlden, Henry, additional, Houlston, Richard S, additional, Howles, Sarah A, additional, Kleta, Robert, additional, Lekkerkerker, Iris, additional, Lin, Siying, additional, Liskova, Petra, additional, Mitchison, Hannah, additional, Morsy, Heba, additional, Mumford, Andrew D, additional, Newman, William G, additional, Neatu, Ruxandra, additional, O’Toole, Edel A, additional, Ong, Albert CM, additional, Pagnamenta, Alistair T, additional, Rahman, Shamima, additional, Rajan, Neil, additional, Robinson, Peter N, additional, Ryten, Mina, additional, Sadeghi-Alavijeh, Omid, additional, Sayer, John A, additional, Shovlin, Claire L, additional, Taylor, Jenny C, additional, Teltsh, Omri, additional, Tomlinson, Ian, additional, Tucci, Arianna, additional, Turnbull, Clare, additional, van Eerde, Albertien M, additional, Ware, James S, additional, Watts, Laura M, additional, Webster, Andrew R, additional, Westbury, Sarah K, additional, Zheng, Sean L, additional, Caulfield, Mark, additional, and Smedley, Damian, additional

Published
2023
Full Text
View/download PDF

18. Dysfunction of peripheral somatic and autonomic nervous system in patients with severe forms of Crohn’s disease on biological therapy with TNFα inhibitors–A single center study

Author

Wasserbauer, Martin, primary, Mala, Sarka, additional, Stechova, Katerina, additional, Hlava, Stepan, additional, Cernikova, Pavlina, additional, Stovicek, Jan, additional, Drabek, Jiri, additional, Broz, Jan, additional, Pichlerova, Dita, additional, Kucerova, Barbora, additional, Liskova, Petra, additional, Kral, Jan, additional, Bartuskova, Lucia, additional, and Keil, Radan, additional

Published
2023
Full Text
View/download PDF

21. Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Author

Khan, Mubeen, Cornelis, Stéphanie S., Pozo-Valero, Marta Del, Whelan, Laura, Runhart, Esmee H., Mishra, Ketan, Bults, Femke, AlSwaiti, Yahya, AlTalbishi, Alaa, De Baere, Elfride, Banfi, Sandro, Banin, Eyal, Bauwens, Miriam, Ben-Yosef, Tamar, Boon, Camiel J. F., van den Born, L. Ingeborgh, Defoort, Sabine, Devos, Aurore, Dockery, Adrian, Dudakova, Lubica, Fakin, Ana, Farrar, G. Jane, Sallum, Juliana Maria Ferraz, Fujinami, Kaoru, Gilissen, Christian, Glavač, Damjan, Gorin, Michael B., Greenberg, Jacquie, Hayashi, Takaaki, Hettinga, Ymkje M., Hoischen, Alexander, Hoyng, Carel B., Hufendiek, Karsten, Jägle, Herbert, Kamakari, Smaragda, Karali, Marianthi, Kellner, Ulrich, Klaver, Caroline C. W., Kousal, Bohdan, Lamey, Tina M., MacDonald, Ian M., Matynia, Anna, McLaren, Terri L., Mena, Marcela D., Meunier, Isabelle, Miller, Rianne, Newman, Hadas, Ntozini, Buhle, Oldak, Monika, Pieterse, Marc, Podhajcer, Osvaldo L., Puech, Bernard, Ramesar, Raj, Rüther, Klaus, Salameh, Manar, Salles, Mariana Vallim, Sharon, Dror, Simonelli, Francesca, Spital, Georg, Steehouwer, Marloes, Szaflik, Jacek P., Thompson, Jennifer A., Thuillier, Caroline, Tracewska, Anna M., van Zweeden, Martine, Vincent, Andrea L., Zanlonghi, Xavier, Liskova, Petra, Stöhr, Heidi, Roach, John N. De, Ayuso, Carmen, Roberts, Lisa, Weber, Bernhard H. F., Dhaenens, Claire‐Marie, and Cremers, Frans P. M.

Published
2020
Full Text
View/download PDF

26. Application of diagnostic criteria for optic neuritis – Authors' reply

Author

Petzold, Axel, primary, Liu, Yaou, additional, Fraser, Clare, additional, Abegg, Mathias, additional, Alroughani, Raed, additional, Alshowaeir, Daniah, additional, Alvarenga, Regina, additional, Andris, Cécile, additional, Asgari, Nasrin, additional, Barnett, Yael, additional, Battistella, Roberto, additional, Behbehani, Raed, additional, Berger, Thomas, additional, Bikbov, Mukharram M., additional, Biotti, Damien, additional, Biousse, Valerie, additional, Boschi, Antonella, additional, Brazdil, Milan, additional, Brezhnev, Andrei, additional, Calabresi, Peter, additional, Cordonnier, Monique, additional, Costello, Fiona, additional, Cruz, Franz Marie, additional, Cunha, Leonardo Provetti, additional, Daoudi, Smail, additional, Deschamps, Romain, additional, DeSeze, Jerome, additional, Diem, Ricarda, additional, Etemadifar, Masoud, additional, Flores-Rivera, Jose, additional, Fonseca, Pedro, additional, Frederiksen, Jette, additional, Frohman, Elliot, additional, Frohman, Teresa, additional, FromentTilikete, Caroline, additional, Fujihara, Kazuo, additional, Gálvez, Alberto, additional, Gouider, Riadh, additional, Gracia, Fernando, additional, Grigoriadis, Nikolaos, additional, Guajardo, José Manuel, additional, Habek, Mario, additional, Hawlina, Marko, additional, Hernández-Martínez de Lapiscina, Elena, additional, Hooker, Juzar, additional, Hor, Jyh Yung, additional, Howlett, William, additional, Huang-Link, Yumin, additional, Idrissova, Zhannat, additional, Illes, Zsolt, additional, Jancic, Jasna, additional, Jindahra, Panitha, additional, Karussis, Dimitrios, additional, Kerty, Emilia, additional, Kim, Ho Jin, additional, Lagrèze, Wolf, additional, Leocani, Letizia, additional, Levin, Netta, additional, Liskova, Petra, additional, Maiga, Youssoufa, additional, Marignier, Romain, additional, McGuigan, Chris, additional, Meira, Dália, additional, Merle, Harold, additional, Monteiro, Mário L.R., additional, Moodley, Anand, additional, Moura, Frederico, additional, Muñoz, Silvia, additional, Mustafa, Sharik, additional, Nakashima, Ichiro, additional, Noval, Susana, additional, Oehninger, Carlos, additional, Ogun, Olufunmilola, additional, Omoti, Afekhide, additional, Pandit, Lekha, additional, Paul, Friedemann, additional, Rebolleda, Gema, additional, Reddel, Stephen, additional, Rejdak, Konrad, additional, Rejdak, Robert, additional, Rodriguez-Morales, Alfonso, additional, Rougier, Marie-Bénédicte, additional, Sa, Maria Jose, additional, Sanchez-Dalmau, Bernardo, additional, Saylor, Deanna, additional, Shatriah, Ismail, additional, Siva, Aksel, additional, Stiebel-Kalish, Hadas, additional, Szatmary, Gabriella, additional, Ta, Linh, additional, Tenembaum, Sylvia, additional, Tran, Huy, additional, Trufanov, Yevgen, additional, VanPesch, Vincent, additional, Wang, An-Guor, additional, Wattjes, Mike P., additional, Willoughby, Ernie, additional, Zakaria, Magd, additional, Zvornicanin, Jasmin, additional, Balcer, Laura, additional, and Plant, Gordon T., additional

Published
2023
Full Text
View/download PDF

28. MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early‐onset cataracts and congenital glaucoma.

Author

Jedlickova, Jana, Vajter, Marie, Barta, Tomas, Black, Graeme C. M., Perveen, Rahat, Mares, Jan, Fichtl, Marek, Kousal, Bohdan, Dudakova, Lubica, and Liskova, Petra

Subjects
CONGENITAL glaucoma, DYSTROPHY, CATARACT, HAPLOTYPES, ALBINOS & albinism
Abstract

Four members of a three‐generation Czech family with early‐onset chorioretinal dystrophy were shown to be heterozygous carriers of the n.37C>T in MIR204. The identification of this previously reported pathogenic variant confirms the existence of a distinct clinical entity caused by a sequence change in MIR204. Chorioretinal dystrophy was variably associated with iris coloboma, congenital glaucoma, and premature cataracts extending the phenotypic range of the condition. In silico analysis of the n.37C>T variant revealed 713 novel targets. Additionally, four family members were shown to be affected by albinism resulting from biallelic pathogenic OCA2 variants. Haplotype analysis excluded relatedness with the original family reported to harbour the n.37C>T variant in MIR204. Identification of a second independent family confirms the existence of a distinct MIR204‐associated clinical entity and suggests that the phenotype may also involve congenital glaucoma. [ABSTRACT FROM AUTHOR]

Published
2023
Full Text
View/download PDF

29. Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease

Author

Bhattacharyya, Nihar, primary, Chai, Niuzheng, additional, Hafford-Tear, Nathaniel J, additional, Sadan, Amanda N, additional, Szabo, Anita, additional, Zarouchlioti, Christina, additional, Jedlickova, Jana, additional, Leung, Szi Kay, additional, Liao, Tianyi, additional, Dudakova, Lubica, additional, Skalicka, Pavlina, additional, Parekh, Mohit, additional, Moghul, Ismail, additional, Jeffries, Aaron R, additional, Cheetham, Michael E, additional, Muthusamy, Kirithika, additional, Hardcastle, Alison J, additional, Pontikos, Nikolas, additional, Liskova, Petra, additional, Tuft, Stephen J, additional, and Davidson, Alice E, additional

Published
2023
Full Text
View/download PDF

30. Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy

Author

Liu, Siyin, primary, Sadan, Amanda N., additional, Muthusamy, Kirithika, additional, Zarouchlioti, Christina, additional, Jedlickova, Jana, additional, Pontikos, Nikolas, additional, Thaung, Caroline, additional, Hardcastle, Alison J., additional, Netukova, Magdalena, additional, Skalicka, Pavlina, additional, Dudakova, Lubica, additional, Bunce, Catey, additional, Tuft, Stephen J., additional, Davidson, Alice E., additional, and Liskova, Petra, additional

Published
2023
Full Text
View/download PDF

31. Familial Limbal Stem Cell Deficiency: Clinical, Cytological and Genetic Characterization

Author

Dudakova, Lubica, Cheong, Sek-Shir, Merjava, Stanislava Reinstein, Skalicka, Pavlina, Michalickova, Marcela, Palos, Michalis, Mahelkova, Gabriela, Krizova, Deli, Hlozanek, Martin, Trkova, Marie, Chojnowski, Jena L., Hrdlickova, Enkela, Pontikos, Nikolas, Plagnol, Vincent, Veselá, Viera, Jirsova, Katerina, Hardcastle, Alison J., Filipec, Martin, Lauderdale, James D., and Liskova, Petra

Published
2017
Full Text
View/download PDF

37. Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

Author

Van de Sompele, Stijn, primary, Small, Kent W., additional, Cicekdal, Munevver Burcu, additional, Soriano, Víctor López, additional, D’haene, Eva, additional, Shaya, Fadi S., additional, Agemy, Steven, additional, Van der Snickt, Thijs, additional, Rey, Alfredo Dueñas, additional, Rosseel, Toon, additional, Van Heetvelde, Mattias, additional, Vergult, Sarah, additional, Balikova, Irina, additional, Bergen, Arthur A., additional, Boon, Camiel J.F., additional, De Zaeytijd, Julie, additional, Inglehearn, Chris F., additional, Kousal, Bohdan, additional, Leroy, Bart P., additional, Rivolta, Carlo, additional, Vaclavik, Veronika, additional, van den Ende, Jenneke, additional, van Schooneveld, Mary J., additional, Gómez-Skarmeta, José Luis, additional, Tena, Juan J., additional, Martinez-Morales, Juan R., additional, Liskova, Petra, additional, Vleminckx, Kris, additional, and De Baere, Elfride, additional

Published
2022
Full Text
View/download PDF

40. Axenfeld-Rieger syndrome: more than meets the eye

Author

Reis, Linda M., primary, Maheshwari, Mohit, additional, Capasso, Jenina, additional, Atilla, Huban, additional, Dudakova, Lubica, additional, Thompson, Samuel, additional, Zitano, Lia, additional, Lay-Son, Guillermo, additional, Lowry, R. Brian, additional, Black, Jennifer, additional, Lee, Joseph, additional, Shue, Ann, additional, Kremlikova Pourova, Radka, additional, Vaneckova, Manuela, additional, Skalicka, Pavlina, additional, Jedlickova, Jana, additional, Trkova, Marie, additional, Williams, Bradley, additional, Richard, Gabriele, additional, Bachman, Kristine, additional, Seeley, Andrea H., additional, Costakos, Deborah, additional, Glaser, Thomas M, additional, Levin, Alex V., additional, Liskova, Petra, additional, Murray, Jeffrey C., additional, and Semina, Elena V., additional

Published
2022
Full Text
View/download PDF

44. Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

Author

Solaki, Maria, primary, Baumann, Britta, additional, Reuter, Peggy, additional, Andreasson, Sten, additional, Audo, Isabelle, additional, Ayuso, Carmen, additional, Balousha, Ghassan, additional, Benedicenti, Francesco, additional, Birch, David, additional, Bitoun, Pierre, additional, Blain, Delphine, additional, Bocquet, Beatrice, additional, Branham, Kari, additional, Català‐Mora, Jaume, additional, De Baere, Elfride, additional, Dollfus, Helene, additional, Falana, Mohammed, additional, Giorda, Roberto, additional, Golovleva, Irina, additional, Gottlob, Irene, additional, Heckenlively, John R., additional, Jacobson, Samuel G., additional, Jones, Kaylie, additional, Jägle, Herbert, additional, Janecke, Andreas R., additional, Kellner, Ulrich, additional, Liskova, Petra, additional, Lorenz, Birgit, additional, Martorell‐Sampol, Loreto, additional, Messias, André, additional, Meunier, Isabelle, additional, Belga Ottoni Porto, Fernanda, additional, Papageorgiou, Eleni, additional, Plomp, Astrid S., additional, de Ravel, Thomy J. L., additional, Reiff, Charlotte M., additional, Renner, Agnes B., additional, Rosenberg, Thomas, additional, Rudolph, Günther, additional, Salati, Roberto, additional, Sener, E. Cumhur, additional, Sieving, Paul A., additional, Stanzial, Franco, additional, Traboulsi, Elias I., additional, Tsang, Stephen H., additional, Varsanyi, Balázs, additional, Weleber, Richard G., additional, Zobor, Ditta, additional, Stingl, Katarina, additional, Wissinger, Bernd, additional, and Kohl, Susanne, additional

Published
2022
Full Text
View/download PDF

46. Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

Author

Van de Sompele, Stijn, primary, Small, Kent W., additional, Cicekdal, Munevver Burcu, additional, Soriano, Víctor López, additional, D’haene, Eva, additional, Shaya, Fadi S., additional, Agemy, Steven, additional, Van der Snickt, Thijs, additional, Rey, Alfredo Dueñas, additional, Rosseel, Toon, additional, Van Heetvelde, Mattias, additional, Vergult, Sarah, additional, Balikova, Irina, additional, Bergen, Arthur A., additional, Boon, Camiel J. F., additional, De Zaeytijd, Julie, additional, Inglehearn, Chris F., additional, Kousal, Bohdan, additional, Leroy, Bart P., additional, Rivolta, Carlo, additional, Vaclavik, Veronika, additional, van den Ende, Jenneke, additional, van Schooneveld, Mary J., additional, Gómez-Skarmeta, José Luis, additional, Tena, Juan J., additional, Martinez-Morales, Juan R., additional, Liskova, Petra, additional, Vleminckx, Kris, additional, and De Baere, Elfride, additional

Published
2022
Full Text
View/download PDF

48. Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population

Author

Kousal, Bohdan, Hlavata, Lucia, Vlaskova, Hana, Dvorakova, Lenka, Brichova, Michaela, Dubska, Zora, Langrova, Hana, Vincent, Andrea L., Dudakova, Lubica, and Liskova, Petra

Subjects
Sulfonamides, RS1, Adolescent, Retinoschisis, Infant, Thiophenes, QH426-470, Article, Pedigree, novel variant, Gene Frequency, Child, Preschool, Mutation, uveitis, Genetics, Humans, Child, Eye Proteins, Antihypertensive Agents, Tomography, Optical Coherence, X-linked retinoschisis, steroid treatment, Czech Republic
Abstract

The aim of this study was to identify RS1 pathogenic variants in Czech patients with X-linked retinoschisis (XLRS) and to describe the associated phenotypes, including natural history, in some cases. Twenty-one affected males from 17 families were included. The coding region of RS1 was directly sequenced and segregation of the identified mutations was performed in available family members. In total, 12 disease-causing variants within RS1 were identified, of these c.20del, c.275G&gt, A, c.[375_379del, 386A&gt, T], c.539C&gt, A and c.575_576insT were novel, all predicted to be null alleles. The c.539C&gt, A mutation occurred de novo. Three patients (aged 8, 11 and 19 years) were misdiagnosed as having intermediate uveitis and treated with systemic steroids. Repeat spectral domain optical coherence tomography examinations in four eyes documented the transition from cystoid macular lesions to macular atrophy in the fourth decade of life. Four individuals were treated with topical dorzolamide and in two of them, complete resolution of the cystic macular lesions bilaterally was achieved, while one patient was noncompliant. Rebound phenomenon after discontinuation of dorzolamide for 7 days was documented in one case. Misdiagnosis of XLRS for uveitis is not uncommon, therefore, identification of disease-causing variants is of considerable benefit to the affected individuals.

Published
2021

49. Machine Learning Algorithms to Detect Subclinical Keratoconus: Systematic Review

Author

Maile, Howard, primary, Li, Ji-Peng Olivia, additional, Gore, Daniel, additional, Leucci, Marcello, additional, Mulholland, Padraig, additional, Hau, Scott, additional, Szabo, Anita, additional, Moghul, Ismail, additional, Balaskas, Konstantinos, additional, Fujinami, Kaoru, additional, Hysi, Pirro, additional, Davidson, Alice, additional, Liskova, Petra, additional, Hardcastle, Alison, additional, Tuft, Stephen, additional, and Pontikos, Nikolas, additional

Published
2021
Full Text
View/download PDF

50. Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?

Author

Dudakova, Lubica, primary, Skalicka, Pavlina, additional, Davidson, Alice E., additional, Sadan, Amanda N., additional, Chylova, Monika, additional, Jahnova, Helena, additional, Anteneova, Nicole, additional, Tesarova, Marketa, additional, Honzik, Tomas, additional, and Liskova, Petra, additional

Published
2021
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results