Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes von Čopíková, Jana, Paděrová, Jana, Románková, Věra, Havlovicová, Markéta, Balaščáková, Miroslava, Zelinová, Michaela, Vejvalková, Šárka, Simandlová, Martina, Štěpánková, Jana, Hořínová, Věra, Kantorová, Eva, Křečková, Gabriela, Pospíšilová, Jana, Boday, Arpád, Meszarosová, Anna Uhrová, Turnovec, Marek, Votýpka, Pavel, Lišková, Petra, Kremlíková Pourová, Radka

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The Key Role of Purine Metabolism in the Folate-Dependent Phenotype of Autism Spectrum Disorders: An In Silico Analysis von Geryk, Jan, Krsicka, Daniel, Vlckova, Marketa, Havlovicova, Marketa, Macek, Milan, Pourova, Radka Kremlikova

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Long-term anatomical and functional outcomes of surgical treatment of retinal complications in children and adolescents with Stickler syndrome between 2004 and 2021 von Burdová, Marie Česká, Štěpánková, Jana, Pourová, Radka Kremlíková, Mahelková, Gabriela, Hložánek, Martin, Kožner, Pavel, Dotřelová, Dagmar

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A TBC1D24 gene variant coincides with STRC compound heterozygosity in a family with hearing loss: a case report von Schwarz, Martin, Hanková, Kamila, Havlovicová, Markéta, Kremlíková Pourová, Radka, Bouček, Jan

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Correction: The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages von Jackson, Leigh, O’Connor, Anita, Paneque, Milena, Curtisova, Vaclava, Lunt, Peter W., Pourova, Radka Kremlíková, MacekJr, Milan, Stefansdottir, Vigdis, Turchetti, Daniela, Campos, Mariana, Henneman, Lidewij, Godino, Lea, Skirton, Heather, Cornel, Martina C.

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Speech Perception and Production in Cochlear Implant Recipients with Pendred Syndrome von Skrivan, Jiri, Jurovcik, Michal, Aksenovova, Zdenka, Astl, Jaromir, Pourova, Radka Kremlikova, Dytrych, Petra, Sieger, Tomas

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A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature von Tesner, Pavel, Drabova, Jana, Stolfa, Miroslav, Kudr, Martin, Kyncl, Martin, Moslerova, Veronika, Novotna, Drahuse, Kremlikova Pourova, Radka, Kocarek, Eduard, Rasplickova, Tereza, Sedlacek, Zdenek, Vlckova, Marketa

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Hereditary hyperferritinemia-cataract syndrome in three Czech families: molecular genetic testing and clinical implications von Moravikova, Jana, Honzik, Tomas, Jadvidzakova, Eva, Zdrahalova, Katerina, Kremlikova Pourova, Radka, Korbasova, Marta, Liskova, Petra, Dudakova, Lubica

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The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages von Jackson, Leigh, O’Connor, Anita, Paneque, Milena, Curtisova, Vaclava, Lunt, Peter W., Pourova, Radka Kremlíková, Macek, Milan, Stefansdottir, Vigdis, Turchetti, Daniela, Campos, Mariana, Henneman, Lidewij, Godino, Lea, Skirton, Heather, Cornel, Martina C.

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SD-OCT imaging as a valuable tool to support molecular genetic diagnostics of Usher syndrome type 1 von Kremlikova Pourova, Radka, Paderova, Jana, Copikova, Jana, Kousal, Bohdan, Dudakova, Lubica, Liskova, Petra

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Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases von Zurek, Birte, Ellwanger, Kornelia, Vissers, Lisenka E. L. M., Schuele, Rebecca, Synofzik, Matthis, Topf, Ana, de Voer, Richarda M., Laurie, Steven, Matalonga, Leslie, Gilissen, Christian, Ossowski, Stephan, 't Hoen, Peter A. C., Vitobello, Antonio, Schulze-Hentrich, Julia M., Riess, Olaf, Brunner, Han G., Brookes, Anthony J., Rath, Ana, Bonne, Gisele, Gumus, Gulcin, Verloes, Alain, Hoogerbrugge, Nicoline, Evangelista, Teresinha, Harmuth, Tina, Swertz, Morris, Spalding, Dylan, Hoischen, Alexander, Beltran, Sergi, Graessner, Holm

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Molecular Cytogenetic Diagnostics of Marker Chromosomes: Analysis in Four Prenatal Cases and Long-Term Clinical Evaluation of Carriers von Tesner, Pavel, Vlckova, Marketa, Drabova, Jana, Vseticka, Jan, Klimova, Anna, Lastuvkova, Jana, Zidovska, Jana, Kremlikova Pourova, Radka, Hancarova, Miroslava, Sedlacek, Zdenek, Kocarek, Eduard

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Solving unsolved rare neurological diseases-a Solve-RD viewpoint von Schuele, Rebecca, Timmann, Dagmar, Erasmus, Corrie E., Reichbauer, Jennifer, Wayand, Melanie, van de Warrenburg, Bart, Schoels, Ludger, Wilke, Carlo, Bevot, Andrea, Zuchner, Stephan, Beltran, Sergi, Laurie, Steven, Matalonga, Leslie, Graessner, Holm, Synofzik, Matthis

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Twist exome capture allows for lower average sequence coverage in clinical exome sequencing von Yaldiz, Burcu, Kucuk, Erdi, Hampstead, Juliet, Hofste, Tom, Pfundt, Rolph, Corominas Galbany, Jordi, Rinne, Tuula, Yntema, Helger G, Hoischen, Alexander, Nelen, Marcel, Gilissen, Christian

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Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint von Schüle, Rebecca, Timmann, Dagmar, Erasmus, Corrie E., Reichbauer, Jennifer, Wayand, Melanie, Baets, Jonathan, Balicza, Peter, Chinnery, Patrick, Dürr, Alexandra, Haack, Tobias, Hengel, Holger, Horvath, Rita, Houlden, Henry, Kamsteeg, Erik-Jan, Kamsteeg, Christoph, Lohmann, Katja, Macaya, Alfons, Marcé-Grau, Anna, Maver, Ales, Molnar, Judit, Münchau, Alexander, Peterlin, Borut, Riess, Olaf, Schöls, Ludger, Stevanin, Giovanni, Synofzik, Matthis, Timmerman, Vincent, van de Warrenburg, Bart, van Os, Nienke, Vandrovcova, Jana, Wilke, Carlo, Wilke, Carlo, Bevot, Andrea, Zuchner, Stephan, Beltran, Sergi, Laurie, Steven, Matalonga, Leslie, Graessner, Holm, Synofzik, Matthis, Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, Hoischen, Alexander, ’t Hoen, Peter A. C., Vissers, Lisenka E. L. M., Gilissen, Christian, Steyaert, Wouter, Sablauskas, Karolis, de Voer, Richarda M., Janssen, Erik, de Boer, Elke, Steehouwer, Marloes, Yaldiz, Burcu, Kleefstra, Tjitske, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Wadsley, Marc, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Töpf, Ana, Straub, Volker, Bettolo, Chiara Marini, Specht, Sabine, Clayton-Smith, Jill, Banka, Siddharth, Alexander, Elizabeth, Jackson, Adam, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Tisserant, Emilie, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Garcia, Carles, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Paramonov, Ida

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Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases von Zurek, Birte, Ellwanger, Kornelia, Vissers, Lisenka E. L. M., Schüle, Rebecca, Synofzik, Matthis, Töpf, Ana, de Voer, Richarda M., Laurie, Steven, Matalonga, Leslie, Gilissen, Christian, Ossowski, Stephan, ’t Hoen, Peter A. C., Vitobello, Antonio, Schulze-Hentrich, Julia M., Riess, Olaf, Brunner, Han G., Brookes, Anthony J., Rath, Ana, Bonne, Gisèle, Gumus, Gulcin, Verloes, Alain, Hoogerbrugge, Nicoline, Evangelista, Teresinha, Harmuth, Tina, Swertz, Morris, Spalding, Dylan, Hoischen, Alexander, Beltran, Sergi, Graessner, Holm, Haack, Tobias B., Zurek, Birte, Ellwanger, Kornelia, Demidov, German, Sturm, Marc, Kessler, Christoph, Wayand, Melanie, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Heutink, Peter, Brunner, Han, Scheffer, Hans, Steyaert, Wouter, Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, te Paske, Iris, Janssen, Erik, de Boer, Elke, Steehouwer, Marloes, Yaldiz, Burcu, Kleefstra, Tjitske, Veal, Colin, Gibson, Spencer, Wadsley, Marc, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Specht, Sabine, Clayton-Smith, Jill, Banka, Siddharth, Alexander, Elizabeth, Jackson, Adam, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Tisserant, Emilie, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Garcia, Carles, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Paramonov, Ida, Lochmüller, Hanns, Bros-Facer, Virginie, Hanauer, Marc, Olry, Annie, Lagorce, David, Havrylenko, Svitlana, Izem, Katia, Rigour, Fanny, Stevanin, Giovanni

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Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data von Matalonga, Leslie, Hernández-Ferrer, Carles, Piscia, Davide, Cohen, Enzo, Cuesta, Isabel, Danis, Daniel, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Gilissen, Christian, Johari, Mridul, Laurie, Steven, Li, Shuang, Nelson, Isabelle, Peters, Sophia, Paramonov, Ida, Prasanth, Sivakumar, Robinson, Peter, Sablauskas, Karolis, Savarese, Marco, Steyaert, Wouter, van der Velde, Joeri K., Vitobello, Antonio, Schüle, Rebecca, Synofzik, Matthis, Töpf, Ana, Vissers, Lisenka E. L. M., de Voer, Richarda, Aretz, Stefan, Capella, Gabriel, de Voer, Richarda M., Evans, Gareth, Pelaez, Jose Garcia, Holinski-Feder, Elke, Hoogerbrugge, Nicoline, Laner, Andreas, Oliveira, Carla, Rump, Andreas, Schröck, Evelin, Sommer, Anna Katharina, Steinke-Lange, Verena, Paske, Iris te, Tischkowitz, Marc, Valle, Laura, Banka, Siddharth, Benetti, Elisa, Casari, Giorgio, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, de Boer, Elke, Ellwanger, Kornelia, Faivre, Laurence, Graessner, Holm, Haack, Tobias B., Hammarsjö, Anna, Havlovicova, Marketa, Hoischen, Alexander, Hugon, Anne, Jackson, Adam, Kleefstra, Tjitske, Lindstrand, Anna, López-Martín, Estrella, Macek, Milan, Morleo, Manuela, Nigro, Vicenzo, Nordgren, Ann, Pettersson, Maria, Pinelli, Michele, Pizzi, Simone, Posada, Manuel, Radio, Francesca Clementina, Renieri, Alessandra, Rooryck, Caroline, Ryba, Lukas, Schwarz, Martin, Tartaglia, Marco, Thauvin, Christel, Torella, Annalaura, Trimouille, Aurélien, Verloes, Alain, Vissers, Lisenka, Votypka, Pavel, Vyshka, Klea, Zurek, Birte, Baets, Jonathan, Beijer, Danique, Bonne, Gisèle, Cossins, Judith, Evangelista, Teresinha, Ferlini, Alessandra, Hackman, Peter, Hanna, Michael G., Horvath, Rita, Houlden, Henry, Lau, Jarred, Lochmüller, Hanns, Macken, William L., Musacchia, Francesco, Nascimento, Andres, Natera-de Benito, Daniel

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Twist exome capture allows for lower average sequence coverage in clinical exome sequencing von Hampstead, Juliet, Yntema, Helger G, Nelen, Marcel, Haack, Tobias B, Graessner, Holm, Zurek, Birte, Demidov, German, Schulze-Hentrich, Julia M, Wayand, Melanie, Synofzik, Matthis, Traschütz, Andreas, Schöls, Ludger, Lerche, Holger, Scheffer, Hans, Vissers, Lisenka E. L. M, Steyaert, Wouter, de Voer, Richarda M, Kamsteeg, Erik-Jan, van Os, Nienke, te Paske, Iris, Steehouwer, Marloes, Kleefstra, Tjitske, Mehtarizadeh, Mehdi, Shorter, Thomas, Töpf, Ana, Engelhardt, Karin, Clayton-Smith, Jill, Banka, Siddharth, Denommé-Pichon, Anne-Sophie, Bruel, Ange-Line, Peyron, Christine, Gut, Ivo Glynne, Matalonga, Leslie, Bullich, Gemma, Corvo, Alberto, Hongnat, Oscar, Chahdil, Maroua, Stevanin, Giovanni, Davoine, Claire-Sophie, Heinzmann, Anna, Metay, Corinne, Cohen, Enzo, Stojkovic, Tanya, Thomasová, Dana, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Robinson, Peter, Costa, Alessia, Reilly, Mary, Cali, Elisa, Muntoni, Francesco, Timmerman, Vincent, Beijer, Danique, Weckhuysen, Sarah, Morleo, Manuela, Varavallo, Alessandra, Ferlini, Alessandra, Bigoni, Stefania, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Gullo, Irene, Swertz, Morris A, Johansson, Lennart, Neerincx, Pieter B, Ruvolo, David, Abbott, Kristin M, Frederikse, Wilhemina SKerstjens, Roelofs-Prins, Dieuwke, Keren, Boris, Lacombe, Didier, De la Paz, Manuel Posada, Ciolfi, Andrea, Pizzi, Simone, Radio, Francesca Clementina, Furini, Simone, Münchau, Alexander, Lohmann, Katja, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Osorio, Andrés Nascimento, Udd, Bjarne, Chinnery, Patrick F, Ratnaike, Thiloka, Schon, Katherine, Başak, Ayşe Nazlı, Dermaut, Bart, Balestrini, Simona, Claeys, Kristl, Bijlsma, Emilia K, Ruivenkamp, Claudia A. L, Haimel, Matthias, Zaganas, Ioannis, Riva, Antonella, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Solve-RD consortium, [missing]

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Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia von Ebrahimi-Fakhari, Darius, Teinert, Julian, Behne, Robert, Wimmer, Miriam, D'Amore, Angelica, Eberhardt, Kathrin, Brechmann, Barbara, Ziegler, Marvin, Jensen, Dana M., Nagabhyrava, Premsai, Geisel, Gregory, Carmody, Erin, Shamshad, Uzma, Dies, Kira A., Yuskaitis, Christopher J., Salussolia, Catherine L., Ebrahimi-Fakhari, Daniel, Pearson, Toni S., Saffari, Afshin, Ziegler, Andreas, Koelker, Stefan, Volkmann, Jens, Wiesener, Antje, Bearden, David R., Lakhani, Shenela, Segal, Devorah, Udwadia-Hegde, Anaita, Martinuzzi, Andrea, Hirst, Jennifer, Perlman, Seth, Takiyama, Yoshihisa, Xiromerisiou, Georgia, Vill, Katharina, Walker, William O., Shukla, Anju, Gupta, Rachana Dubey, Dahl, Niklas, Aksoy, Ayse, Verhelst, Helene, Delgado, Mauricio R., Pourova, Radka Kremlikova, Sadek, Abdelrahim A., Elkhateeb, Nour M., Blumkin, Lubov, Brea-Fernandez, Alejandro J., Dacruz-Alvarez, David, Smol, Thomas, Ghoumid, Jamal, Miguel, Diego, Heine, Constanze, Schlump, Jan-Ulrich, Langen, Hendrik, Baets, Jonathan, Bulk, Saskia, Darvish, Hossein, Bakhtiari, Somayeh, Kruer, Michael C., Lim-Melia, Elizabeth, Aydinli, Nur, Alanay, Yasemin, El-Rashidy, Omnia, Nampoothiri, Sheela, Patel, Chirag, Beetz, Christian, Bauer, Peter, Yoon, Grace, Guillot, Mireille, Miller, Steven P., Bourinaris, Thomas, Houlden, Henry, Robelin, Laura, Anheim, Mathieu, Alamri, Abdullah S., Mahmoud, Adel A. H., Inaloo, Soroor, Habibzadeh, Parham, Faghihi, Mohammad Ali, Jansen, Anna C., Brock, Stefanie, Roubertie, Agathe, Darras, Basil T., Agrawal, Pankaj B., Santorelli, Filippo M., Gleeson, Joseph, Zaki, Maha S., Sheikh, Sarah, Bennett, James T., Sahin, Mustafa

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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features von Li, Dong, Bayat, Allan, Zhou, Yijing, Granger, Leslie, Petersen, Andrea K, Aznar-Laín, Gemma, Hancarova, Miroslava, Pourova, Radka Kremlikova, Sedlacek, Zdenek, Keena, Beth A, Hou, Cuiping, Bhoj, Elizabeth J, Harr, Margaret H, Lemire, Gabrielle, Towne, Meghan, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Parker, Michael J, Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Wright, Meredith, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Cooper, Annina, Maarup, Timothy J, Byler, Melissa, Lebel, Robert Roger, Balci, Tugce B, Louie, Raymond, Lyons, Michael, Afenjar, Alexandra, Hoyer, Juliane, Keren, Boris, Motazacker, Mahdi M, Martinez-Agosto, Julian A, Ruggiero, Sarah M, Helbig, Ingo, Palko, Mary Ellen, Ganapathi, Mythily, Gelb, Bruce D, Jobanputra, Vaidehi, Wilson, Ashley, Greally, John, Jacquemont, Sébastien, Jizi, Khadijé, Bruel, Ange Line, Quelin, Chloé, Chick, Erika, Romano, Corrado, Greco, Donatella, Arena, Alessia, Nigro, Vincenzo, Matsumoto, Naomichi, Taira, Ryoji, Tashiro, Katsuya, Sakai, Yasunari, Wollnik, Bernd, Wagner, Michael, Kutsche, Barbara, Hurst, Anna C.E, Thompson, Michelle L, Schmidt, Ryan, Randolph, Linda, Spillmann, Rebecca C, Higginbotham, Edward J, Cordeiro, Dawn, Carnevale, Amanda, Costain, Gregory, Osmond, Matthew, Quercia, Nada, Carrasco, Diana, Sanchez-Valle, Amarilis, Kelley, Meghan, Nizon, Mathilde, Sulem, Patrick, Busa, Tiffany, Habdallah, Hamza Hadj, Lesieur-Sebellin, Marion, Amiel, Jeanne, Mercier, Sandra, Vincent, Marie, Philippe, Christophe, Halligan, Rebecca K, Rosser, Jane, Shoubridge, Cheryl, Barnett, Christopher, Gecz, Jozef, Leppig, Kathleen, Slavotinek, Anne, Pfundt, Rolph, de Vries, Bert B.A, Brooks, Alice S, Rambaud, Thomas, Zackai, Elaine H, Song, Yuanquan, Hakonarson, Hakon

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