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1. 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
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2. Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Author

Wang, Tianyun, Hoekzema, Kendra, Vecchio, Davide, Wu, Huidan, Sulovari, Arvis, Coe, Bradley P, Gillentine, Madelyn A, Wilfert, Amy B, Perez-Jurado, Luis A, Kvarnung, Malin, Sleyp, Yoeri, Earl, Rachel K, Rosenfeld, Jill A, Geisheker, Madeleine R, Han, Lin, Du, Bing, Barnett, Chris, Thompson, Elizabeth, Shaw, Marie, Carroll, Renee, Friend, Kathryn, Catford, Rachael, Palmer, Elizabeth E, Zou, Xiaobing, Ou, Jianjun, Li, Honghui, Guo, Hui, Gerdts, Jennifer, Avola, Emanuela, Calabrese, Giuseppe, Elia, Maurizio, Greco, Donatella, Lindstrand, Anna, Nordgren, Ann, Anderlid, Britt-Marie, Vandeweyer, Geert, Van Dijck, Anke, Van der Aa, Nathalie, McKenna, Brooke, Hancarova, Miroslava, Bendova, Sarka, Havlovicova, Marketa, Malerba, Giovanni, Bernardina, Bernardo Dalla, Muglia, Pierandrea, van Haeringen, Arie, Hoffer, Mariette JV, Franke, Barbara, Cappuccio, Gerarda, Delatycki, Martin, Lockhart, Paul J, Manning, Melanie A, Liu, Pengfei, Scheffer, Ingrid E, Brunetti-Pierri, Nicola, Rommelse, Nanda, Amaral, David G, Santen, Gijs WE, Trabetti, Elisabetta, Sedláček, Zdeněk, Michaelson, Jacob J, Pierce, Karen, Courchesne, Eric, Kooy, R Frank, Nordenskjöld, Magnus, Romano, Corrado, Peeters, Hilde, Bernier, Raphael A, Gecz, Jozef, Xia, Kun, and Eichler, Evan E

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Commerce, Management, Tourism and Services, SPARK Consortium
Abstract

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Published
2020

3. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Author

Wang, Tianyun, Hoekzema, Kendra, Vecchio, Davide, Wu, Huidan, Sulovari, Arvis, Coe, Bradley P, Gillentine, Madelyn A, Wilfert, Amy B, Perez-Jurado, Luis A, Kvarnung, Malin, Sleyp, Yoeri, Earl, Rachel K, Rosenfeld, Jill A, Geisheker, Madeleine R, Han, Lin, Du, Bing, Barnett, Chris, Thompson, Elizabeth, Shaw, Marie, Carroll, Renee, Friend, Kathryn, Catford, Rachael, Palmer, Elizabeth E, Zou, Xiaobing, Ou, Jianjun, Li, Honghui, Guo, Hui, Gerdts, Jennifer, Avola, Emanuela, Calabrese, Giuseppe, Elia, Maurizio, Greco, Donatella, Lindstrand, Anna, Nordgren, Ann, Anderlid, Britt-Marie, Vandeweyer, Geert, Van Dijck, Anke, Van der Aa, Nathalie, McKenna, Brooke, Hancarova, Miroslava, Bendova, Sarka, Havlovicova, Marketa, Malerba, Giovanni, Bernardina, Bernardo Dalla, Muglia, Pierandrea, van Haeringen, Arie, Hoffer, Mariette JV, Franke, Barbara, Cappuccio, Gerarda, Delatycki, Martin, Lockhart, Paul J, Manning, Melanie A, Liu, Pengfei, Scheffer, Ingrid E, Brunetti-Pierri, Nicola, Rommelse, Nanda, Amaral, David G, Santen, Gijs WE, Trabetti, Elisabetta, Sedláček, Zdeněk, Michaelson, Jacob J, Pierce, Karen, Courchesne, Eric, Kooy, R Frank, Nordenskjöld, Magnus, Romano, Corrado, Peeters, Hilde, Bernier, Raphael A, Gecz, Jozef, Xia, Kun, and Eichler, Evan E

Subjects
Genetics, Prevention, 2.1 Biological and endogenous factors, Aetiology, Basic Helix-Loop-Helix Transcription Factors, CCCTC-Binding Factor, Case-Control Studies, Cohort Studies, DNA Mutational Analysis, DNA-Binding Proteins, Female, Genetic Association Studies, Genetic Predisposition to Disease, Heterogeneous-Nuclear Ribonucleoprotein U, High-Throughput Nucleotide Sequencing, Humans, KCNQ3 Potassium Channel, Male, Mutation, Neurodevelopmental Disorders, RNA-Binding Proteins, Repressor Proteins, Transcription Factors, SPARK Consortium
Abstract

Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the significance in case-control mutation burden analysis is unestablished. Here, we sequence 63 genes in 16,294 NDD cases and an additional 62 genes in 6,211 NDD cases. By combining these with published data, we assess a total of 125 genes in over 16,000 NDD cases and compare the mutation burden to nonpsychiatric controls from ExAC. We identify 48 genes (25 newly reported) showing significant burden of ultra-rare (MAF

Published
2020

4. Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant

Author

Boer, Elke de, Cohen, Enzo, Cuesta, Isabel, Danis, Daniel, Denommé-Pichon, Anne-Sophie, Gao, Fei, Gilissen, Christian, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Matalonga, Leslie, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, Paske, Iris B.A.W. te, Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, Trimouille, Aurélien, van der Velde, Joeri K., Vandrovcova, Jana, Vitobello, Antonio, Zurek, Birte, Abbot, Kristin M., Banka, Siddharth, Benetti, Elisa, de Boer, Elke, Casari, Giorgio, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Ellwanger, Kornelia, Faivre, Laurence, Graessner, Holm, Haack, Tobias B., Hammarsjö, Anna, Havlovicova, Marketa, Hoischen, Alexander, Hugon, Anne, Jackson, Adam, Kerstjens, Mieke, Kleefstra, Tjitske, Lindstrand, Anna, Martín, Estrella López, Macek, Milan, Jr., Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Nordgren, Ann, Pettersson, Maria, Pinelli, Michele, Pizzi, Simone, Posada, Manuel, Radio, Francesca C., Renieri, Alessandra, Rooryck, Caroline, Ryba, Lukas, Santen, Gijs W.E., Schwarz, Martin, Tartaglia, Marco, Thauvin, Christel, Torella, Annalaura, Verloes, Alain, Vissers, Lisenka, Votypka, Pavel, Vyshka, Klea, Zguro, Kristina, Yaldiz, Burcu, Laurie, Steve, de Reuver, Rick, Kwint, Michael, Pfundt, Rolph, Willemsen, Michèl A.A.P., Vries, Bert B.A. de, Vitobello, A., and Vissers, Lisenka E.L.M.

Published
2022
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6. 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
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8. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Author

Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Denommé-Pichon, Anne-Sophie, Matalonga, Leslie, de Boer, Elke, Jackson, Adam, Benetti, Elisa, Banka, Siddharth, Bruel, Ange-Line, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Duffourd, Yannis, Ellwanger, Kornelia, Fallerini, Chiara, Gilissen, Christian, Graessner, Holm, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jean-Marçais, Nolwenn, Kleefstra, Tjitske, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Pizzi, Simone, Posada, Manuel, Radio, Francesca Clementina, Renieri, Alessandra, Rooryck, Caroline, Ryba, Lukas, Safraou, Hana, Schwarz, Martin, Tartaglia, Marco, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, Trimouille, Aurélien, Votypka, Pavel, de Vries, Bert B. A., Willemsen, Marjolein H., Zurek, Birte, Verloes, Alain, Philippe, Christophe, Abbott, Kristin M., Faivre, Laurence, Kerstjens, Mieke, Martín, Estrella López, Macek Jr., Milan, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Radio, Francesca C., Riess, Olaf, Agathe, Jean-Madeleine De Sainte, Santen, Gijs W. E., Thauvin, Christel, Torella, Annalaura, Vissers, Lisenka, Vitobello, Antonio, 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, 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, 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, Li\vsková, Petra, Dole\vzalová, 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, 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, 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, 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, Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Denommé-Pichon, Anne-Sophie, Matalonga, Leslie, de Boer, Elke, Jackson, Adam, Benetti, Elisa, Banka, Siddharth, Bruel, Ange-Line, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Duffourd, Yannis, Ellwanger, Kornelia, Fallerini, Chiara, Gilissen, Christian, Graessner, Holm, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jean-Marçais, Nolwenn, Kleefstra, Tjitske, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Pizzi, Simone, Posada, Manuel, Radio, Francesca Clementina, Renieri, Alessandra, Rooryck, Caroline, Ryba, Lukas, Safraou, Hana, Schwarz, Martin, Tartaglia, Marco, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, Trimouille, Aurélien, Votypka, Pavel, de Vries, Bert B. A., Willemsen, Marjolein H., Zurek, Birte, Verloes, Alain, Philippe, Christophe, Abbott, Kristin M., Faivre, Laurence, Kerstjens, Mieke, Martín, Estrella López, Macek Jr., Milan, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Radio, Francesca C., Riess, Olaf, Agathe, Jean-Madeleine De Sainte, Santen, Gijs W. E., Thauvin, Christel, Torella, Annalaura, Vissers, Lisenka, Vitobello, Antonio, 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, 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, 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, Li\vsková, Petra, Dole\vzalová, 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, 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, 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, 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, and Alembik, Yves

Abstract

Purpose Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion The “ClinVar low-hanging fruit” analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock.

Published
2023

9. A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Author

Denommé-Pichon, Anne-Sophie, primary, Matalonga, Leslie, additional, de Boer, Elke, additional, Jackson, Adam, additional, Benetti, Elisa, additional, Banka, Siddharth, additional, Bruel, Ange-Line, additional, Ciolfi, Andrea, additional, Clayton-Smith, Jill, additional, Dallapiccola, Bruno, additional, Duffourd, Yannis, additional, Ellwanger, Kornelia, additional, Fallerini, Chiara, additional, Gilissen, Christian, additional, Graessner, Holm, additional, Haack, Tobias B., additional, Havlovicova, Marketa, additional, Hoischen, Alexander, additional, Jean-Marçais, Nolwenn, additional, Kleefstra, Tjitske, additional, López-Martín, Estrella, additional, Macek, Milan, additional, Mencarelli, Maria Antonietta, additional, Moutton, Sébastien, additional, Pfundt, Rolph, additional, Pizzi, Simone, additional, Posada, Manuel, additional, Radio, Francesca Clementina, additional, Renieri, Alessandra, additional, Rooryck, Caroline, additional, Ryba, Lukas, additional, Safraou, Hana, additional, Schwarz, Martin, additional, Tartaglia, Marco, additional, Thauvin-Robinet, Christel, additional, Thevenon, Julien, additional, Mau-Them, Frédéric Tran, additional, Trimouille, Aurélien, additional, Votypka, Pavel, additional, de Vries, Bert B.A., additional, Willemsen, Marjolein H., additional, Zurek, Birte, additional, Verloes, Alain, additional, Philippe, Christophe, additional, Vitobello, Antonio, additional, Vissers, Lisenka E.L.M., additional, and Faivre, Laurence, additional

Published
2023
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11. A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

Author

de Boer, Elke, Ockeloen, Charlotte W., Matalonga, Leslie, Horvath, Rita, 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, Töpf, Ana, van der Velde, Joeri K., Vitobello, Antonio, Rodenburg, Richard J., Coenen, Marieke J. H., Janssen, Mirian, Henssen, Dylan, Banka, Siddharth, Benetti, Elisa, Casari, Giorgio, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, 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, Verloes, Alain, Vissers, Lisenka, Votypka, Pavel, Vyshka, Klea, Zurek, Birte, Trimouille, Aurélien, Vissers, Lisenka E. L. M., Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique [Robert Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), European Research Council, Evelyn Trust, Newton Fund, European Project: 825619,AI4EU, Dutch Research Council (Holanda), Medical Research Council (Reino Unido), Lily Foundation, Unión Europea. Comisión Europea. H2020, Ockeloen, Charlotte W [0000-0003-0329-1520], Horvath, Rita [0000-0002-9841-170X], Rodenburg, Richard J [0000-0001-5227-3527], Gilissen, Christian [0000-0003-1693-9699], Steyaert, Wouter [0000-0001-8393-0788], Trimouille, Aurélien [0000-0002-3457-5684], Verloes, Alain [0000-0003-4819-0264], Vissers, Lisenka ELM [0000-0001-6470-5497], Apollo - University of Cambridge Repository, de Boer, E., Ockeloen, C. W., Matalonga, L., Horvath, R., Rodenburg, R. J., Coenen, M. J. H., Janssen, M., Henssen, D., Gilissen, C., Steyaert, W., Paramonov, I., Trimouille, A., Kleefstra, T., Verloes, A., Vissers, L. E. L. M., Nigro, V., Torella, A., and Banfi, S.

Subjects
Male, Proband, Mitochondrial DNA, RNA, Transfer, Leu, Brief Communication, Quadriplegia, Whole Exome Sequencing, Healthcare improvement science Radboud Institute for Health Sciences [Radboudumc 18], Young Adult, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Intellectual Disability, Exome Sequencing, Genetics research, Intellectual disability, Genetics, medicine, Humans, Genetics (clinical), Exome sequencing, 0303 health sciences, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], business.industry, Neurodevelopmental disorders, 030305 genetics & heredity, Correction, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Translational research, medicine.disease, Heteroplasmy, 3. Good health, MT-TL1, Mutation, Inflammatory diseases Radboud Institute for Health Sciences [Radboudumc 5], Spastic tetraparesis, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Neurological disorders, 030217 neurology & neurosurgery
Abstract

Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis. Eur J Hum Genet. 2021 Sep;29(9):1470-1471. doi: 10.1038/s41431-021-00937-3. The genetic etiology of intellectual disability remains elusive in almost half of all affected individuals. Within the Solve-RD consortium, systematic re-analysis of whole exome sequencing (WES) data from unresolved cases with (syndromic) intellectual disability (n = 1,472 probands) was performed. This re-analysis included variant calling of mitochondrial DNA (mtDNA) variants, although mtDNA is not specifically targeted in WES. We identified a functionally relevant mtDNA variant in MT-TL1 (NC_012920.1:m.3291T > C; NC_012920.1:n.62T > C), at a heteroplasmy level of 22% in whole blood, in a 23-year-old male with severe intellectual disability, epilepsy, episodic headaches with emesis, spastic tetraparesis, brain abnormalities, and feeding difficulties. Targeted validation in blood and urine supported pathogenicity, with heteroplasmy levels of 23% and 58% in index, and 4% and 17% in mother, respectively. Interestingly, not all phenotypic features observed in the index have been previously linked to this MT-TL1 variant, suggesting either broadening of the m.3291T > C-associated phenotype, or presence of a co-occurring disorder. Hence, our case highlights the importance of underappreciated mtDNA variants identifiable from WES data, especially for cases with atypical mitochondrial phenotypes and their relatives in the maternal line. This work was financially supported by Aspasia grants of the Dutch Research Council (015.014.036 to TK and 015.014.066 to LELMV), the European Research Council (ERC to RH), the Well come Investigator Award (109915/Z/15/Z to RH), the Medical Research Council UK (MR/N025431/1 to RH), the Newton Fund (MR/N027302/1 to RH), the Lily Foundation (RH), and the Evelyn Trust (RH). The Solve-RD project has received funding from the European Union’s Horizon 2020 research and innovation program under grant agreement No. 779257. Sí

Published
2021

12. Brief Report: Significant Differences in Perceived Odor Pleasantness Found in Children with ASD

Author

Hrdlicka, Michal, Vodicka, Jan, and Havlovicova, Marketa

Abstract

The aim of our study was to explore possible differences in estimation of odor pleasantness in children with autism spectrum disorders (ASD) compared to controls. Thirty-five patients with Asperger's syndrome and high functioning autism (mean age 10.8 [plus or minus] 3.6 years; 31 boys) were compared with 35 healthy control subjects (mean age 10.4 [plus or minus] 2.4 years; 28 boys). Odor pleasantness was assessed on a 5-point scale using the Sniffin' Sticks test (Identification part of the test). Patients with ASD, compared to healthy controls, perceived the smell of cinnamon and pineapple as significantly less pleasant (p less than 0.05); at the trend level, the same was true of cloves (p less than 0.1). The possibility of olfactory dysfunctions as an autism biomarker is discussed.

Published
2011
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Aleksic, Olivera, Pejovic-Milovancevic, Milica, Popovic-Deusic, Smiljka, Pirgic, Biljana, Sojic, Ivana, Correll, Christoph, Parikh, Umesh, Olshanskiy, Vladimir, Chopra, Bhrigu, Kane, John M., Malhotra, Anil K., Sieslack, Sonja, Barth, Gottfried Maria, Klosinski, Gunther, Sadigorsky, Sheila, Kronenberg, Sefi, Frisch, Amos, Williams, Nicola, Tonge, Bruce, King, Neville, Melvin, Glenn, Dudley, Amanda, Gordon, Michael, Klimkeit, Ester, Hatch, Simon, Breddy, John, DeCory, Heleen, Cameron, Sara, Solanto, Mary, Serra-Pinheiro, Maria, Sousa, Isabella, Mattos, Paulo, Gomes, Fernanda, Pastura, Giuseppe, Milinkovic, Desna, Bilke, Oliver, Kühnel, Sibille, Winterfeld, Bernhard, Campo, John, Perel, James, Axelson, David, Bridge, Jeff, Birmaher, Boris, Ryan, Neal, Brent, David, Sonuga-Barke, Edmund J. S., Sanchez, Dorothea Y., Pavuluri, Mani, Henry, David B., Carbray, Julie A., Sampson, Gwendolyn, Naylor, Michael W., Janicak, Philip G., Gebhardt, Stefan, Theisen, Frank, Haberhausen, Michael, Heinzel-Gutenbrunner, Monika, Wehmeier, Peter, Krieg, Jürgen-Christian, Kühnau, Wolfgang, Schmidtke, Jörg, Remschmidt, Helmut, Hebebrand, Johannes, Clement, Hans-Willi, Fleischhaker, Christian, Hennighausen, Klaus, Schulz, Eberhard, Frank, Reiner, Karamete, Belda, Löndahl, Gunnel, Gustafsson, Peik, Parnegdrd, Anneli, Rigon, Giancarlo, Chiodo, Simona, Mancaruso, Alessandra, Poggioli, Daniele Giovanni, Costa, Stefano, Pires, Pedro, Brito, Isabel, Carvalho, Isabel, Almeida, Sara, Zaragoza, Paula, Shevchenko, Yury, Korneeva, Vasilisa, Stankovic, Miodrag, Lakic, Aneta, Milovanovic, Vesna, Stankovic, Sandra, Hobrücker, Bernard, Caby, Filip, Chambry, Jean, Laudrin, Stéphane, Graindorge, Catherine, Oiji, Arata, Morioka, Yukiko, Murata, Ami, Sato, Madoka, Hashizume, Yume, Müller, Katarina, Werner, Willigis, Martin, Matthias, Mattejat, Eva, Olivieri, Myriam, Simoncini, Annalisa, Marchegiani, Sonia, Muratori, Marco Lazzorotto, Borsetti, Gabriele, Farrag, Shewikar, Coltrinari, Riccardo, Habib, Doa, Fung, Daniel, Lee, Nelson, Ohmann, Susanne, Popow, C., Lanzenberger, M., Herzog, H., Schuch, S., Miksch, S., Abdollahy, Fatemeh, Khani, S., Shabankhani, B., Guerra, Joao, Fontes, Claudia, Martins, Vania, Teles, Ana, Rodrigues, Corina, Correia, Zulmira, Becht-Jördens, Gereon, McElearney, Catherine, Marsh, Michael Fitzgerald Henry, Naumann, Alexander, Holst, Dirk, Engbarth, Annette, Mircea, Tiberiu, Nehra, Ashima, Malhotra, Savita, Chakrabarti, Subho, Kiran, Shashi, Shoba, Srinath, Hvolby, Allan, Jorgensen, Jan Ib, Medeiros, Marco, Correia, Ariete, Gabilondo, Maria, da Silva, Pedro Caldeira, Carreira, Augusto, Yang, Jae-Won, Kim, Yeoung-Rang, Hong, Sung-Do David, Lee, Sang-Sin, Lim, Seong-Hu, Park, Jeoung-Hwan, Trbic, Vera, Boskovic, Danica, Pauschardt, Jan, Mattejat, Fritz, Quaschner, Kurt, Lischka, Erika, Bauer, Mechthild, Petzke, Franka, Wehrmann, Britta, Lesinskiene, Sigita, Paskauskaite, Laura, Bueno, Luisa Garcia-Giralda, Gonzales, Juana Montiel, Cumbres, Javier Gallego, Asensio, Francisco Gutierrez, Denoix, Susanne, Kimmig, Franz, Weinhardt, Marc, Greven, Peter, Buchmann, Stefan, Atas, Nurgül, Jonkanski, Ute, Pisarsky, Bodo, Treuter, Silvia, Cornellà, Josep, Llusent, Alex, Condesso, Lara, Trigueiros, António, Schütz, Klaus, Tarren-Sweeney, Michael, Hazell, Philip, Mazzone, Luigi, Mugno, Diego, Ruta, Liliana, D’Arrigo, Valentina Genitori, Simona, Perrotta Concetta, Mattina, Teresa, Mazzone, Domenico, Nordbeck, Ralf, Gierow, Wolfgang, Haessler, Frank, Buchmann, Johannes, Bliznakova, Lucia, Grimmer, Yvonne, Roth, H. J., Jennen-Steinmetz, Christine, Schmidt, Martin H., Becker, Katja, Ludolph, Andrea G., Storch, Alexander, Boeckers, Tobias, Kirsch, Joachim, Fegert, Jörg M., Drevitska, Oksana, Cianchetti, Carlo, Corona, Simona, Foscoliano, Maria, Contu, Daniela, Fancello, Giuseppina Sannio, Costa, Anna, Roello, Mara, Romano, Angela, Fabrizi, Anna, Pelliccia, Andrea, Matricardi, Maria, Matthias, Nickola, Lesnick, Timo, Gass, Matthias, Su, Linyan, Zhang, Jishui, Wu, Dazing, Luo, Xuerong, Ardizzone, Ignazio, D’Oto, Paola, Priskich, Francesca, Rigillo, Elvira, Tomassetti, Nadia, Vagnoni, Francesca, Sabisch, Beate, Hahne, Anja, Glass, Lisa, Friederici, Angela D., von Suchodoletz, Waldemar, Di Brina, Carlo, Pagnacco, Andrea, Capozzi, Flavia, Penge, Roberta, Bocci, Fabio, Cantonetti, Laura, De Carlo, Alessandra, Scanferla, Barbara, Sebastiani, Teresa, Vagnoni, Cristina, Gao, Xueping, Du, Yasong, Lorenzetti, Fabio, von Aster, Michael, Schweiter, Martin, Kucian, Karin, Loenneker, Thomas, Dietrich, Thomas, Martin-Fiori, Ernst, Abuhegaz, Hesham, Bahary, Hashem, Lee, Dae-Hwan, Kim, Bong-Seog, Jeon, Seong-Ill, Chung, Sun-Lu, da Simoes, Maria Conceicao Taborda, da Dias, Maria Luz Vale, Engqvist, Ulf, Rydelius, Per-Anders, das Formosinho, Maria Dores, Pinto, Ana Monica, Lima, Luiza Nobre, Edbom, Tobias, Larsson, Jan-Olov, Lichtenstein, Paul, Perez, Bernardo, Marin, Macarena, Yang, Su-Jin, Lee, Helen, Noh, Kyung-Sun, Keller, Ferdinand, Goldbeck, Lutz, Benjelloun, Ghizlane, Dhossche, Dirk, Stanfill, Sara, Takahara, Akiko, Kusu, Minemitsu, Watanabe, Sumiko, Matsui, Tatsuya, Ikeda, Kengo, Matsuda, Hiroe, Allik, Hiie, Smedje, Hans, Shirataki, Sadaaki, Murakami, Bonko, Mohamed, Rawheya Ahmad, Dunbar, Fiona, Shea, Sarah, Atsumi, Mariko, Matsumoto, Hideo, Ooya, Akitoshi, Koishi, Seiji, Aoki, Yutaka, Enseki, Youichi, Nakamura, Yuri, Francis, Kostas, Kazaridis, Vassilis, Kirillidou, Panagiota, Koukouvinou, Sofia, Paliwal, Sobharani, Clinic, Parkview, Whitehouse, William, Edwards, Margo, Edwards, Ayliffe, Pandit, Sunita, Powell, Judith, Tehrani-Doost, Mehdi, Sepasi, Mitra, Alaghband-Rad, Javad, Goodarzi, Reza Rad, Kodaira, Masaki, Viertler, Andrea, Elpel, Katja, Reis, Olaf, Akçakn, Melda Ayse, Erden, Gulsen, Kerimoglu, Efser, Lemonnier, Eric, Munesue, Toshio, Mutoh, Kouhei, Shimoda, Kazunori, Nakatani, Hideo, Koshino, Yoshifumi, Germerott, Isabell, Sadek, Eman Galal, Litvinov, A. G., Calderón-Castaneda, Froylan, Nuno-Licona, Alberto Enrique, Alatorre-Miguel, Efren, Goth, Kirstin, Schmeck, Klaus, Winter, Sibylle, Wiegard, Anja, Hinrichs, Günter, Köhler, Denis, Kammerer, Martin, Adams, Diana, von Castelberg, Brida, Taylor, Alyx, Posserud, Maj-Britt, Stormark, Kjell Morten, Lundervold, Astri J., Gillberg, Christopher, Steijnen, Maaike, Verhoeven, Sophie, Francula, Ivana, Prpic, Igor, Volga, Rena, Di Biasi, Stefania, Piperno, Francesca, Puleo, Filomena, Cerracchio, Sara, Giacchè, Roberta, Rein, Zoé, Godart, Nathalie, Perdereau, Fabienne, Curt, Florence, Jeammet, Philippe, Fermanian, Jacques, Bayman, Emine Ozgur, Taneli, Yesim, Guvendeger, Neslim, Ediz, Bulent, Taneli, Suna, Kan, Ismet, Plaß, Angela, Barkmann, Claus, Mack, B., Mittenzwei, K., Riedesser, Peter, Schulte-Markwort, Michael, Roessner, Veit, Becker, Andreas, Hagenberg, Nicola, Berking, Matthias, Banaschewski, Tobias, Rothenberger, Aribert, Coulon, Nathalie, Tardiola, Daniela, Balsamo, Stefano, Capriotti, Nadia, Sandhu, Tanveer, Tamminen, Tuula, Iovchuk, Nina, Milacic, Ivona, Vidojevic, Oliver, Kilincaslan, Ayse, Mukaddes, Nahit Motavalli, Sozen, Gokce, Umut, Ayla, Yamamoto, Kenji, Koishi, Shinko, Natsume, Noriko, Yamazaki, Kosuke, Nanba, Eiji, Naber, Fabienne, van Daalen, Emma, Buitelaar, Jan, van IJzendoorn, Marinus, Willemsen-Swinkels, Sophie, BakermansKranenburg, Marian J., van Engeland, Herman, de Jonge, Maretha, Kemner, Chantal, Caby, Andrea, Bendt, Stefan, Bashina, Vera, Krasnoperova, Maria, Croonenberghs, Jan, Sliwinski, Sonja, Christophe, Armand, Deboutte, Dirk, Maes, Michael, Tosco, Alessia, Giorgi, Emanuela, Lazzarini, Monica, Iorio, M. Liliana, Becciu, Mercedes, Kim, Bung-Nyun, In-Hyoung, Jeong, Ahn, Dong-Hyun, Kim, Boong-Nyun, Shin, Yun-O, Hong, Kang-E, Hrdlicka, Michal, Neuwirth, Jiri, Komarek, Vladimir, Havlovicova, Marketa, Sedlacek, Zdenek, Blatny, Marek, Urbanek, Tomas, Ohta, Masataka, Kano, Yukiko, Nagai, Yoko, Wintgens, Anne, Hayez, Jean-Yves, Lim, Seoung-Hu, Ha, Ji-Hye, Byun, Hee-Jung, Kim, Ji-Hae, Lee, Rebecca, Fombonne, Eric, Taylor, Eric, Çetin, Füsun Çuhadaroôlu, James, Deborah, Lawlor, Maria, Sofroniou, Nick, Kamibeppu, Kiyoko, Sato, Lori, Hoshi, Yasutaka, Zdravkovic, Jezdimir, Kostic, Petar, Murafi, Khalid, Ries, Michael, Siefen, Rainer Georg, Jelinek, Martin, Klimusova, Helena, Blizkovska, Jaroslava, Burke, C., Doody, B., Nix, Carole Müller, Nicole, Ayala, Wilken, Markus, Dunitz-Scheer, Marguerite, Krasnovsky, Alexandra, Dressler, Anastasia, Perelli, Valentina, Tinelli, Francesca, Rafanelli, Valentina, Bargagna, Stefania, Libal, Gerhard, Plener, Paul, Fegert, Jórg M., Enokido, Fumiko, Higuchi, Masako, Jibiki, Istuki, Tomori, Martina, Yoo, Hee-Jeong, Kim, Su-Yeon, Cho, In-Hee, Yune, Sook-Kyeong, Lyoo, In-Kyoon, Ha, Ji-Hyun, Haas, Barbara, Danilova, Lyudmila, Dervic, Kanita, Csorba, Janos, Rozsa, Sandor, Kleinman, Marjorie, Tringer, Laszlo, Friedrich, Max, Gould, Madelyn, Akkaya-Kalayci, Tuerkan, Lenz, Gerhard, Lapponi, Elisa, Filipponi, Maria Carla, Lauria, Felicia, Sogos, Carla, Kitamura, Akihide, Albrecht, Bjoern, Zhang, Xianghui, Li, Xuerong, Hercigonja-Novkovim, Vesna, Kocijan-Hercigonja, Dubravka, Ralston, Stephen, Lorenzo, Maria, Aziz, Asmaa Amin Abdel, Biederman, Joseph, Spencer, Thomas, Moore, Rodney, Gao, Haitao, Cornelld, Josep, Dajcman, Natasa Potocnik, Holnthaner, Rok, Xie, Guangrong, Sühlfleisch-Thurau, Ulrike, Häßler, Frank, Tiffin-Richards, Margaret, Richards, Michael, Hasselhorn, Marcus, Bayrak, Alper, Pereira, R. Rodrigues, Brussel, W., Vlasveld, L., Tuynman-Qua, H. G., Lorenzo, M. J., Song, Dong-Ho, Ha, Eun-Hye, Lee, Eun-Sik, Yu, Young-Min, Weiler, Hans-Theo, Hellrung, Heike, Grünling, Caro, Overmeyer, Stephan, Ligges, Markus, Blanz, Bernhard, Claus, Armin, Walitza, Susanne, Scheuerpflug, Peter, Wewetzer, Christoph, Gerlach, Manfred, Warnke, Andreas, Aoki, Mieko, Aoki, Shozo, Takii, Masato, Uchigata, Yasuko, Nozaki, Takehiro, Kawai, Keisuke, Takakura, Shu, Koreeda, Chikako, Kubo, Chiharu, Saino, Hitoshi, Denda, Kenzo, Ito, Kouichi, Asakura, Satoshi, Sasaki, Yukiya, Sasaki, Fumi, Inoue, Seishiro, Werneck-Rohrer, Sonja, Eveline, Ernst, Eichberger, Heidrun, Prause, Carolin, Schuch, Bibiana, Lamerz, Andreas, Kuepper-Nybelen, Jutta, Wehle, Christine, Trost-Brinkhues, Gabriele, Brenner, Hermann, Herpertz-Dahlmann, Beate, Pawlowska, Beata, Chuchra, Maria, Kaczynska-Haladyj, Marta, Schulze, Ulrike Margarete Elisabeth, Schuler, Simone, Schlamp, Dieter, Schneider, Peter, Reiners, Christian, Morita, Chihiro, Severny, Anatoly, Brutman, Victor, Kireeva, Irina, Schmid, Marc, Zander, Antje, Kaczynska-Haladyi, Marta, Bruning, Nicole, TrostBrinkhues, Gabriele, Popow, Christian, Karwautz, Andreas, Eimecke, Sylvia, Holtkamp, Kristian, Capasso, Anna, Seki, Masaki, Wakabayashi, Yu, Takaoka, Ken, Schmid, Marc G., Zerahn-Hartung, Claudia, Morioka, Kayo, Nedoschill, Jan, Leiberich, Peter, Loew, Thomas, Jung, Jae-Suk, Lee, Young-Sik, Chung, Sun-Ju, Park, Tae-Won, Bettoschi, Alba Sunshine, Carboni, Pasquale, Cho, Soo-Churl, Ahn, Jeong-Mee, Hong, Kang-E., Kassubek, Jan Elena, Quiner, Sylvia, Seyering, Michaela, Friedrich, Max H., Radojkovic, Ana, Velimirovic, Ana, Ali, Sherese, Parker, Kevin, Martinovic, Zarko, Krstic, Nadezda, Buder, Nevenka, Ispanovic, Veronika, Mojs, Ewa, Glowacka, Maria Danuta, Hayashi, Junko, Funakosi, Syunichi, Kamiyama, Takamichi, Ueno, Takashi, Ishii, Tomohiro, Hayashi, Yutaka, Matsuoka, Hiroo, Gardner, William, Lucas, Amanda, Kolko, David, Kelleher, Kelly, Ballabriga, Maria Claustre Jané, Sola, Sergi Ballespi, Dorado, Montse, Reganon, Natalia Diaz, Alonso, Maite Gonzalez, Riba, Maria Dolores, Llaberia, Edelmira Domenech, Ishii, Kayano, Inoko, Kayo, Nishizono-Maher, Aya, Osawa, Makiko, Kasahara, Mari, Saitou, Kazuhiko, Murase, Satomi, Oga, Risa, Murakami, Takashi, Honjo, Shuji, Kaneko, Hitoshi, Arai, Shiori, Völkl-Kernstock, Sabine, Bauch-Prater, Sonja, Feucht, Martha, Vilariça, Paula, Pereira, Isadora, Pastor, Olivia, Farinha, Susana, Caldeira, Pedro, Silva, Maria Antónia, Gawrilow, Caterina, Gollwitzer, Peter M., Cheon, Keun-Ah, Ryu, Young-Hoon, Kim, Jae-won, Filho, Alceu Gomes Correia, Rohde, Luis Augusto, Silva, Tatiana, Bodanese, Rafael, Aman, Michael, Gunning, W. Boudewijn, Laucht, Manfred, El-Faddagh, Mahha, Schmidt, Martin, Nützel, Jakob, Ball, Juliane, Elben, Cornelia, Kadziela-Olech, Halina, Park, Taewon, Im, Myung Ho, Kang, Daehee, Yoo, Hee Jeong, Michelson, David, Zhang, Shuyu, Ruff, Dustin, Feldman, Peter, Bilenberg, Niels, Jensen, Jurgen, Moradi, Azar, Alaey, Vahed, Kratochvil, Christopher, Wilens, Timothy, Greenhill, Laurence, Gelowitz, Douglas, Celestin, Leon Patrice, Celestin-Westreich, Smadar, Banerjee, Somnath, Chandola, M., Venables, S., Negoro, Hideki, Lida, Junzo, Iwasaka, Hidemi, Kyo, Masanori, Nagano, Tatsushi, Kishino, Kanae, Kishimoto, Toshihumi, Kim, Bong-Suk, Hwang, Jun-Won, Kyoh, Masanori, Junzo, Lida, Hideki, Negoro, Tatsushi, Nagano, Kanae, Kishino, Hidemi, Iwasaka, Toshifumi, Kishimoto, Strous, Rael, Kertzman, Simion, Nachum, Z. Ben, Kotler, Moshe, Hegesh, Roni, Coghill, David, Spender, Quentin, Barton, Joanne, Hollis, Chris, Yuen, Cammy, Cleemput, Irina, Annemens, Lieven, Eschmann, Susanne, Käppler, Karl Christoph, Teodoro, Maycoln M. L., Stieger, Eva, Mugier, Anouk, Stüttler, Stephanie, Heise, Cord Alexander, Uebel, Henrik, Hanisch, Charlotte, Konrad, Kerstin, Radach, Ralph, Horn, Dagmar, Tsujii, Noa, Okada, Akira, Kuriki, Noriko, Matsuo, Junko, Hanada, Kazushi, Kusube, Takeshi, Hitomi, Kazuhiko, Schmitz, Marcelo, Denardin, Daniel, da Silva, Tatiana, Pianca, Thiago, Roman, Tatiana, Hutz, Mara, Bouden, Asma, Dengezli, Ines, Halayem, Mohamed, Herreros, Oscar, Sanchez, Francisco, Rubio, Belen, Gracia, Ramon, Weber, Simone Henrike, Wolters, Alex, Allen, Albert J., Kurlan, Roger, Gilbert, Donald, Dunn, David, Sallee, F. Randy, Thomason, Christine, Sutton, Virginia, Milton, Denai, Petersen, Dorthe, Kristensen, Solvejg, Kinkelbur, Jörg, Hellwig, Juliane, Hellwig, Martin, Rüther, Eckert, Omigbodun, Olayinka, Esan, O., Bakare, K., Yusufi, B. O., Nuhu, F., Adesokan, A., Kopecky-Wenzel, Marie, Steenhuis, Mark-Peter, Minderaa, Ruud, Körlof, Marie-Louise, Wängby, Margit, Bergman, Lars R., Yu, Suwei, Multimäki, Petteri, Parkkola, Kai, Sourander, Andre, Nikolakaros, Georgios, Helenius, Hans, Freitas, Carina, Rocha, Assunçâo, Pocinho, Lídia, Arai, Shinichi, Ichikawa, Hironobu, Hirosawa, Ikuko, Mdrquez-Caraveo, Maria Elena, Pérez-Barrón, Verónica, Sorensen, Merete Juul, Mors, Ole, Thomsen, Per Hove, von Klitzing, Kai, Perren, Sonja, von Wyl, Agnes, Burgin, Dieter, Yoo, Han-Ik, Shin, Min-Sup, Hong, Kang E., Syed, Ehsan, Haqqi, Sobia, Semago, Michail, Girdzijauskiene, Sigita, Puras, Dainius, Gintiliene, Grazina, Cerniauskaite, Dovile, Bormann-Kischkel, Christiane, Schmoetzer, Rosemarie, Frischholz, Diana, Linder, Martin, Ganseforth, Catharina, Rödder, Daniela, Kribs, Angela, Pillekamp, Frank, von Gontard, Alexander, Roth, Bernhard, Wiguna, Tjhin, Marques, Cristina Maria Ribeiro, Goldschmidt, Teresa, Cepeda, Teresa, Arman, Ayse, Ersu, Refika, Save, Dilsad, Karaman, Goksin, Karabekiroglu, Koray, Karadag, Bulent, Berkem, Meral, Moller, Lene Ruge, Biswas, Parathasarathy, Malhotra, Anil, Gupta, Nitin, Ivarsson, Tord, Litlere, Oeystein, Svalander, Per, Yelikova, Yelena, Nastasic, Petar, Filipovic, Snezana, Panoski, Roza, Lazetic, Goran, Zvereva, Nataliya, Strauss, Monika, Graf, A., Zollinger, R., Brückl, Tanja, Höfler, Michael, Schwenden, Lena, Wittchen, Hans-Ulrich, Lieb, Roselind, Schweitzer, Angelika, Edwards, Jane, Schlögelhofer, Monika, Amminger, Paul G., Ledda, Maria Giuseppina, Zuddas, A., Piroddi, T., Abis, M., Mereu, A., Härtling, Fabian, Tepest, Ralf, Goncharova, Tanja, Linden, David E. D., Falkei, Peter, Vogeley, Kai, Poustka, Fritz, Spinner, Miriam, Dobranowski, Julian, MacCrimmon, Duncan, Gibson, Jim, Fawcett, Susan, Criollo, Margarita, Ramsauer, Brigitte, Janke, Nina, Djukic, Danica Boskovic, Napoli, Fabiola, Valente, Raffaella, Neri, Valeria, Ferrara, Mauro, Costa, Carla D’Agostini, Veronesi, Christian, Melogno, Sergio, Gigliotti, Achille, Mazzoncini, Bruna, Fonseca, Antonio, Maid, Eva, Hohm, Erika, Mehler-Wex, Claudia, Duvigneau, J. Catharina, Hartl, Romana T., Ben-Shachar, Dorit, Kranzier, Harvey, Kumra, Sanjiv, Gerbino-Rosen, Ginny, Roofeh, David, De Thomas, Courtney, Dombrowski, Carolyn, McMeniman, Marjorie, Chang, Hsueh-Ling, Chen, Sue-Huei, Yu, Keh-Chiang, Kölch, Michael, Bücheler, Reinhild, Gleiter, Christoph H., Bohne, Stephanie P., Häßler, Frank M., Gierow, Bärbel, Carbray, Julie, Gwen, Sampson, Naylor, Michael, Taanila, Anja, Hautala, Katri, Kemppainen, Päivi, Kotimaa, Arto, Ebeling, Hanna, Moilanen, Irma, Biscaldi, Monica, Wagner, Bettina, Dürrwächter, Ute, Trauzettel-Klosinski, Susanne, Reinhard, Jens, Plume, Ellen, Schulte-Körne, Gerd, Aleksic, Branko, Blaser, Regula, Preuss, Ulrich, Meusel, Claudia, Macharey, Georg, Strehlow, Ulrich, Haffner, Johann, Bischof, Jürgen, Gratzka, Volker, Parzer, Peter, Resch, Franz, Sachse, Steffi, Anke, Beatrice, Adamski, Monika, Pecha, Angelika, Macesic-Petrovic, Dragana, Slavnic, Svetlana, Hatagaki, Chie, Swaab, Hanna, Cohen-Kettenis, P., Di Scipio, Roberta, Patruno, Ester, Reinelt-Straka, Sylvia, Hoffmann, Liselotte, Dragana, Max H. Friedrich, Petrovic, Macesic, Nesa, Monique, Hay, David, Roberts, Clare, McCoy, Mairead, Salbach, Harriet, Klopfer, Uta, Hagen, Swantje, Arne, Bürger, Lehmkuhl, Ulrike, Smith, Bradley, Sinzig, Judith, Hohmann, Martin, Mukai, Takayo, Enebrink, Pia, Ldngström, Niklas, Andershed, Henrik, Richer, Louis, Lachance, Lise, Dubé, Claude, Saintonge, Serge, Virkkunen, Matti, Liesivuori, Jyrki, Bloigu, Risto, Tiihonen, Jari, Vance, Alasdair, Prakash, Chidambaram, Reyes-Harde, Magali, Csaba, Krisztina, Eerdekens, Marielle, Olah, Roza, Augustyns, Ilse, Hellmann, Ulrike, Matei, Astrid, Ha, Ji Hyun, Cho, In Hee, Kim, Mee Gyeong, Yune, Sook Kyeong, Lyoo, In Kyoon, Barbro, Bruce, Polanczyk, Guilherme, Iraqi, Zineb, Kadri, Nadia, Moussaoui, Driss, Raddaoui, Kamal, Titze, Karl, Wollenweber, Susanne, Nell, Verena, Wiefel, Andreas, Guex, Margarita Forcada, Sezer, Basaran, Shamsaei, Farshid, Cheraghi, Fatemeh, Hasturk, Oytun, Okan, Mehmet, Sato, Naoko, Sato, Aya, Camillo, Eleonora, Porcari, Viviana, Salatiello, Maria Patrizia, Chifari, Sabrina, Dell’Oglio, Valentina, Rosanna, Militello, Scrò, Carmela, Hart-Kerkhoffs, Lisette, Ph. van Wijk, A., Jansen, L. M. C., Vermeiren, Robert, Doreleijers, Theodore, Zhang, Shi Ji, Latva, Reija, Lehtonen, Liisa, Salmelin, Raili, Tsalamanios, Emmanouel, Kolaitis, Gerasimos, Paliokosta, Elena, Diareine, Stauroula, Anasontzi, Sofia, Tsiantis, Alkis, Limbinaki, Irini, Tsiantis, John, Dreana-Ianciu, Leontina, Vrajitoriu, Miriana, Lebedeva, Laura, Taner, Yasemen, Bakkaloglu, Betul, Çetin, Füsun Çuhadaroâlu, Ozbesler, Cengiz, Erturk, Mihriban, Sebre, Sandra, Keller, Audrey, Borghini, Ayala, Pierrehumbert, Blaise, Ansermet, François, Furnham, Adrian, Noack, Peter, Kirkcaldy, Bruce, Felber, Michaela, Puig, Stefan, Swain, James, Leckman, James, Mayes, Linda, Feldman, Ruth, Constable, Robert, Schultz, Robert, Koren, Evgeny, Trangkasombat, Umaporn, Karle, Michael, Belianchikova, Marina, Scoblo, Galina, Fadeev, Valentin, Jaunin, Lyne, Ansermet, Francois, Ujiie, Tatsuo, Nomura, Kenji, Sasaki, Yasuko, Stancheva-Popkostadinova, Vaska, Achkova, Meglena, Kilic, Emine, Erdogan, Gönül, Gaber, Rami, Qasqas, Areej, Aßhauer, Martin, Adam, Hubertus, Jones, Lynne, Rachidi, Linda, Halty, Kawtar, Battas, Omar, Leor, Agnes, Tyano, Shmuel, Shreiber, Schaul, Hosogane, Nan, Watanabe, Kyoto, Okuyama, Makiko, Kim, Young-Shin, Leventhal, Bennett, Koh, Yun-Joo, Boyce, W. Thomas, Liptai, Sonja, Clauß, Marianne, Heuer, Petra, Kaadan, Abdul Nasser, Menahem, Samuel, Salo-Thompson, Frances, Shabankhani, Bizhan, Hoeger, Christoph, Jeong, Seong-Shim, Park, Jeong-Hwan, Szaniecki, Eduardo, Roll-Pettersson, Lise, Ehnis, Patrick, Trosse, Maria, Van Rebelo, Piedade, Mattson, Eva Heimdahl, Cucchiaro, Giulietta, Cocuzza, Mariadonatella, Morales, Giada, Bobrova, Nataliya, Asbahr, Fernando, Ramos, Renato, Costa, André, Sassi, Roberto, Nauta, Maaike, Tomori, Sonila, Alikaj, Valbona, Como, A., Snider, Lisa, Garvey, Marjorie, Zanetta, Dirce, Elkis, Helio, Swedo, Susan, Vural, Pinar, Wang, Kai, Zhu, Yan, Sabuncuoglu, Osman, Krasavina, Viktoryia, Pykhtareva, Nina, Venuti, Bianca, Tachi, Naohiko, Kodoi, Naomi, Sakamoto, Naoko, Watanabe, Michiko, Goto, Motiko, Geller, Frank, Reinlein, J., Barth, Nikolaus, Hahn, F., Hinney, Anke, Robatzek, Monika, Calvo, Rosa, Luisa, Lazaro, Cirigliano, Lucrezia, Lucarelli, Loredana, Ratz, Uwe, Stegemann, Thomas, Breuer, Ulla, von Widdern, Susanne, Fricke, Leonie, Mitschke, Alexander, Wiater, Alfred, Lehmkuhl, Gerd, Honda, Kyoichi, Lafta, Muhmmad, Kurultak, Secil Oktem, Tomori, S., Petrela, E., Remschmidt, Helmut, editor, and Belfer, Myron L., editor

Published
2004
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14. FOXP1-related intellectual disability syndrome: a recognisable entity

Author

Meerschaut, Ilse, Rochefort, Daniel, Revençu, Nicole, Pètre, Justine, Corsello, Christina, Rouleau, Guy A, Hamdan, Fadi F, Michaud, Jacques L, Morton, Jenny, Radley, Jessica, Ragge, Nicola, García-Miñaúr, Sixto, Lapunzina, Pablo, Bralo, Maria Palomares, Mori, Maria Ángeles, Moortgat, Stéphanie, Benoit, Valérie, Mary, Sandrine, Bockaert, Nele, Oostra, Ann, Vanakker, Olivier, Velinov, Milen, de Ravel, Thomy JL, Mekahli, Djalila, Sebat, Jonathan, Vaux, Keith K, DiDonato, Nataliya, Hanson-Kahn, Andrea K, Hudgins, Louanne, Dallapiccola, Bruno, Novelli, Antonio, Tarani, Luigi, Andrieux, Joris, Parker, Michael J, Neas, Katherine, Ceulemans, Berten, Schoonjans, An-Sofie, Prchalova, Darina, Havlovicova, Marketa, Hancarova, Miroslava, Budisteanu, Magdalena, Dheedene, Annelies, Menten, Björn, Dion, Patrick A, Lederer, Damien, and Callewaert, Bert

Published
2017
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16. Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Author

Matalonga, Leslie, Hernández-Ferrer, Carles, DITF-ITHACA, Solve-RD, Verloes, Alain, Vissers, Lisenka, Vitobello, Antonio, Votypka, Pavel, Vyshka, Klea, Zurek, Birte, Baets, Jonathan, Beijer, Danique, Bonne, Gisèle, Cohen, Enzo, DITF-euroNMD, Solve-RD, Cossins, Judith, Evangelista, Teresinha, Ferlini, Alessandra, Hackman, Peter, Hanna, Michael G, Horvath, Rita, Houlden, Henry, Johari, Mridul, Lau, Jarred, Lochmüller, Hanns, DITF-RND, Solve-RD, Macken, William L, Musacchia, Francesco, Nascimento, Andres, Natera-de Benito, Daniel, Nigro, Vincenzo, Piluso, Giulio, Pini, Veronica, Pitceathly, Robert D S, Polavarapu, Kiran, Cruz, Pedro M Rodriguez, Tonda, Raul, Sarkozy, Anna, Savarese, Marco, Selvatici, Rita, Thompson, Rachel, Udd, Bjarne, Van de Vondel, Liedewei, Vandrovcova, Jana, Zaharieva, Irina, Balicza, Peter, Laurie, Steven, Chinnery, Patrick, Dürr, Alexandra, Haack, Tobias, Hengel, Holger, Kamsteeg, Erik-Jan, Kamsteeg, Christoph, Lohmann, Katja, Macaya, Alfons, Marcé-Grau, Anna, Fernandez-Callejo, Marcos, Maver, Ales, Molnar, Judit, Münchau, Alexander, Peterlin, Borut, Riess, Olaf, Schöls, Ludger, Schüle-Freyer, Rebecca, Stevanin, Giovanni, Synofzik, Matthis, Timmerman, Vincent, Picó, Daniel, van de Warrenburg, Bart, van Os, Nienke, Wayand, Melanie, Wilke, Carlo, Haack, Tobias B, Graessner, Holm, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Garcia-Linares, Carles, Sturm, Marc, Schulze-Hentrich, Julia M, Kessler, Christoph, Heutink, Peter, Brunner, Han, Scheffer, Hans, Papakonstantinou, Anastasios, Hoogerbrugge, Nicoline, 't Hoen, Peter A C, Steyaert, Wouter, Sablauskas, Karolis, Te Paske, Iris, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Corvó, Alberto, Brookes, Anthony J, Veal, Colin, Gibson, Spencer, Wadsley, Marc, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Piscia, Davide, Joshi, Ricky, Bettolo, Chiara Marini, Specht, Sabine, Clayton-Smith, Jill, Banka, Siddharth, Alexander, Elizabeth, Jackson, Adam, Faivre, Laurence, Thauvin, Christel, Duffourd, Yannis, Tisserant, Emilie, Diez, Hector, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Bullich, Gemma, Gut, Ivo, Corvo, Alberto, Garcia, Carles, Hernández, Carles, Paramonov, Ida, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hoischen, Alexander, Hanauer, Marc, Olry, Annie, Lagorce, David, Havrylenko, Svitlana, Izem, Katia, Rigour, Fanny, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Allamand, Valérie, Nelson, Isabelle, Yaou, Rabah Ben, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Macek, Milan, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Kremlik, Vlastimil, Parkinson, Helen, Keane, Thomas, Consortia, Solve-RD, Spalding, Dylan, Senf, Alexander, Danis, Daniel, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Reilly, Mary, Muntoni, Francesco, de Jonghe, Peter, Banfi, Sandro, Torella, Annalaura, Cuesta, Isabel, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, 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, group, Solve-RD SNV-indel working, Denommé-Pichon, Anne-Sophie, Roelofs-Prins, Dieuwke, Köhler, Sebastian, Metcalfe, Alison, Rooryck, Caroline, Trimouille, Aurelien, Castello, Raffaele, Morleo, Manuela, Varavallo, Alessandra, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Martín, Estrella López, Delgado, Beatriz Martínez, de la Rosa, F Javier Alonso García, Radio, Francesca Clementina, Tartaglia, Marco, Renieri, Alessandra, Benetti, Elisa, Molnar, Maria Judit, Gilissen, Christian, Herzog, Rebecca, Pauly, Martje, Osorio, Andres Nascimiento, de Benito, Daniel Natera, Beeson, David, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Schröck, Evelin, Rump, Andreas, Li, Shuang, Prasanth, Sivakumar, Robinson, Peter, van der Velde, Joeri K, de Voer, Richarda M, Evans, Gareth, Sommer, Anna Katharina, Töpf, Ana, Paske, Iris Te, Tischkowitz, Marc, Casari, Giorgio, Ciolfi, Andrea, Dallapiccola, Bruno, de Boer, Elke, Vissers, Lisenka E L M, Hammarsjö, Anna, Havlovicova, Marketa, Hugon, Anne, de Voer, Richarda, Kleefstra, Tjitske, Lindstrand, Anna, López-Martín, Estrella, Nigro, Vicenzo, Nordgren, Ann, Pettersson, Maria, Pinelli, Michele, Pizzi, Simone, DITF-GENTURIS, Solve-RD, Posada, Manuel, Ryba, Lukas, Schwarz, Martin, Trimouille, Aurélien, Solve RD SNV Indel Working Grp, Solve RD DITF GENTURIS, Solve RD DITF ITHACA, Solve RD DITF-euroNMD, Solve RD DITF RND, Solve RD Consortia, Matalonga, L., Hernandez-Ferrer, C., Piscia, D., Cohen, E., Cuesta, I., Danis, D., Denomme-Pichon, A. -S., Duffourd, Y., Gilissen, C., Johari, M., Laurie, S., Li, S., Nelson, I., Peters, S., Paramonov, I., Prasanth, S., Robinson, P., Sablauskas, K., Savarese, M., Steyaert, W., van der Velde, J. K., Vitobello, A., Schule, R., Synofzik, M., Topf, A., Vissers, L. E. L. M., de Voer, R., Aretz, S., Capella, G., de Voer, R. M., Evans, G., Pelaez, J. G., Holinski-Feder, E., Hoogerbrugge, N., Laner, A., Oliveira, C., Rump, A., Schrock, E., Sommer, A. K., Steinke-Lange, V., Paske, I., Tischkowitz, M., Valle, L., Banka, S., Benetti, E., Casari, G., Ciolfi, A., Clayton-Smith, J., Dallapiccola, B., de Boer, E., Ellwanger, K., Faivre, L., Graessner, H., Haack, T. B., Hammarsjo, A., Havlovicova, M., Hoischen, A., Hugon, A., Jackson, A., Kleefstra, T., Lindstrand, A., Lopez-Martin, E., Macek, M., Morleo, M., Nigro, V., Nordgren, A., Pettersson, M., Pinelli, M., Pizzi, S., Posada, M., Radio, F. C., Renieri, A., Rooryck, C., Ryba, L., Schwarz, M., Tartaglia, M., Thauvin, C., Torella, A., Trimouille, A., Verloes, A., Vissers, L., Votypka, P., Vyshka, K., Zurek, B., Baets, J., Beijer, D., Bonne, G., Cossins, J., Evangelista, T., Ferlini, A., Hackman, P., Hanna, M. G., Horvath, R., Houlden, H., Lau, J., Lochmuller, H., Macken, W. L., Musacchia, F., Nascimento, A., Natera-de Benito, D., Piluso, G., Pini, V., Pitceathly, R. D. S., Polavarapu, K., Cruz, P. M. R., Sarkozy, A., Selvatici, R., Thompson, R., Udd, B., Van de Vondel, L., Vandrovcova, J., Zaharieva, I., Balicza, P., Chinnery, P., Durr, A., Haack, T., Hengel, H., Kamsteeg, E. -J., Kamsteeg, C., Lohmann, K., Macaya, A., Marce-Grau, A., Maver, A., Molnar, J., Munchau, A., Peterlin, B., Riess, O., Schols, L., Schule-Freyer, R., Stevanin, G., Timmerman, V., van de Warrenburg, B., van Os, N., Wayand, M., Wilke, C., Tonda, R., Fernandez-Callejo, M., Pico, D., Garcia-Linares, C., Papakonstantinou, A., Corvo, A., Joshi, R., Diez, H., Gut, I., Beltran, S., Ossowski, S., Demidov, G., Sturm, M., Schulze-Hentrich, J. M., Kessler, C., Heutink, P., Brunner, H., Scheffer, H., 't Hoen, P. A. C., te Paske, I., Janssen, E., Steehouwer, M., Yaldiz, B., Brookes, A. J., Veal, C., Gibson, S., Wadsley, M., Mehtarizadeh, M., Riaz, U., Warren, G., Dizjikan, F. Y., Shorter, T., Straub, V., Bettolo, C. M., Specht, S., Alexander, E., Tisserant, E., Bruel, A. -L., Peyron, C., Pelissier, A., Gut, I. G., Bullich, G., Garcia, C., Hernandez, C., Gumus, G., Bros-Facer, V., Rath, A., Hanauer, M., Olry, A., Lagorce, D., Havrylenko, S., Izem, K., Rigour, F., Davoine, C. -S., Guillot-Noel, L., Heinzmann, A., Coarelli, G., Allamand, V., Yaou, R. B., Metay, C., Eymard, B., Atalaia, A., Stojkovic, T., Turnovec, M., Thomasova, D., Kremlikova, R. P., Frankova, V., Kremlik, V., Parkinson, H., Keane, T., Spalding, D., Senf, A., Robert, G., Costa, A., Patch, C., Hanna, M., Reilly, M., Muntoni, F., de Jonghe, P., Banfi, S., Rossi, R., Neri, M., Spier, I., Matos, A. R., Jose, C. S., Ferreira, M., Gullo, I., Fernandes, S., Garrido, L., Ferreira, P., Carneiro, F., Swertz, M. A., Johansson, L., van der Vries, G., Neerincx, P. B., Roelofs-Prins, D., Kohler, S., Metcalfe, A., Castello, R., Varavallo, A., De la Paz, M. P., Sanchez, E. B., Martin, E. L., Delgado, B. M., de la Rosa, F. J. A. G., Molnar, M. J., Herzog, R., Pauly, M., Osorio, A. N., de Benito, D. N., Beeson, D., Unión Europea. Comisión Europea. H2020, Instituto de Salud Carlos III, Ministerio de Economía, Industria y Competitividad (España), Ministerio de Ciencia e Innovación. Centro de Excelencia Severo Ochoa (España), Government of Catalonia (España), Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF), Instituto Nacional de Bioinformatica (España), Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA Klinische Genetica (5), Instituto de Salud Global - Institute For Global Health [Barcelona] (ISGlobal), Instituto de Salud Carlos III [Madrid] (ISC), Radboud University Medical Center [Nijmegen], Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Equipe GAD (LNC - U1231), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Barcelona Institute of Science and Technology (BIST), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Folkhälsan Research Center, Faculty of Medecine [Helsinki], University of Helsinki-University of Helsinki, Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche en Myologie, University of Helsinki, Department of Medical and Clinical Genetics, Medicum, and Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI)

Subjects
Genetic testing, Computer science, genetics [Rare Diseases], lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], EXOME, MEDICAL GENETICS, Diseases, Disease, VARIANTS, Genome informatics, Genomic analysis, Diseases, Genetic testing, Genome informatics, Genomic analysis, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], Exome, Genetics (clinical), Exome sequencing, 0303 health sciences, Application programming interface, methods [Genomics], 030305 genetics & heredity, 1184 Genetics, developmental biology, physiology, Genomics, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], 3. Good health, Pedigree, diagnosis [Rare Diseases], Chemistry, Medical genetics, medicine.medical_specialty, methods [Genetic Testing], MEDLINE, Socio-culturale, Phenome, AMERICAN-COLLEGE, INHERITANCE, Sensitivity and Specificity, Article, standards [Genetic Testing], 03 medical and health sciences, Rare Diseases, [SDV.MHEP.AHA]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], Genetics, medicine, Humans, ddc:610, Genetic Testing, Biology, 030304 developmental biology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Data science, Workflow, 3111 Biomedicine, standards [Genomics], Human medicine, Software
Abstract

Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data. Eur J Hum Genet. 2021 Sep;29(9):1466-1469. doi: 10.1038/s41431-021-00934-6. PMID: 34393220 Reanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield of patients with rare diseases. However, the cost and efforts required for reanalysis prevent its routine implementation in research and clinical environments. The Solve-RD project aims to reveal the molecular causes underlying undiagnosed rare diseases. One of the goals is to implement innovative approaches to reanalyse the exomes and genomes from thousands of well-studied undiagnosed cases. The raw genomic data is submitted to Solve-RD through the RD-Connect Genome-Phenome Analysis Platform (GPAP) together with standardised phenotypic and pedigree data. We have developed a programmatic workflow to reanalyse genome-phenome data. It uses the RD-Connect GPAP's Application Programming Interface (API) and relies on the big-data technologies upon which the system is built. We have applied the workflow to prioritise rare known pathogenic variants from 4411 undiagnosed cases. The queries returned an average of 1.45 variants per case, which first were evaluated in bulk by a panel of disease experts and afterwards specifically by the submitter of each case. A total of 120 index cases (21.2% of prioritised cases, 2.7% of all exome/genome-negative samples) have already been solved, with others being under investigation. The implementation of solutions as the one described here provide the technical framework to enable periodic case-level data re-evaluation in clinical settings, as recommended by the American College of Medical Genetics. The Solve-RD project has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement No 779257. Data were analysed using the RD‐Connect Genome‐Phenome Analysis Platform, which received funding from EU projects RD‐Connect, Solve-RD and EJP-RD (grant numbers FP7 305444, H2020 779257, H2020 825575), Instituto de Salud Carlos III (grant numbers PT13/0001/0044, PT17/0009/0019; Instituto Nacional de Bioinformática, INB) and ELIXIR Implementation Studies. We acknowledge support of the Spanish Ministry of Economy, Industry and Competitiveness (MEIC) to the EMBL partnership, the Centro de Excelencia Severo Ochoa and the CERCA Programme/Generalitat de Catalunya. We also acknowledge the support of the Generalitat de Catalunya through Departament de Salut and Departament d’Empresa i Coneixement and the Co-financing by the Spanish Ministry of Economy, Industry and Competitiveness (MEIC) with funds from the European Regional Development Fund (ERDF) corresponding to the 2014-2020 Smart Growth Operating Program. Sí

Published
2021

24. Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders.

Author

Smith, Michael, Alexander, Elizabeth, Marcinkute, Ruta, Dan, Dorica, Rawson, Myfanwy, Banka, Siddharth, Gavin, Jason, Mina, Hany, Hennessy, Con, Riccardi, Florence, Radio, Francesca Clementina, Havlovicova, Marketa, Cassina, Matteo, Emandi, Adela Chirita, Fradin, Melanie, Gompertz, Lianne, Nordgren, Ann, Traberg, Rasa, Rossi, Massimiliano, and Trimouille, Aurelién

Abstract

Background: The European Reference Networks, ERNs, are virtual networks for healthcare providers across Europe to collaborate and share expertise on complex or rare diseases and conditions. As part of the ERNs, the Clinical Patient Management System, CPMS, a secure digital platform, was developed to allow and facilitate web-based, clinical consultations between submitting clinicians and relevant international experts. The European Reference Network on Intellectual Disability, TeleHealth and Congenital Anomalies, ERN ITHACA, was formed to harness the clinical and diagnostic expertise in the sector of rare, multiple anomaly and/or intellectual disability syndromes, chromosome disorders and undiagnosed syndromic disorders. We present the first year results of CPMS use by ERN ITHACA as an example of a telemedicine strategy for the diagnosis and management of patients with rare developmental disorders.Results: ERN ITHACA ranked third in telemedicine activity amongst 24 European networks after 12 months of using the CPMS. Information about 28 very rare cases from 13 different centres across 7 countries was shared on the platform, with diagnostic or other management queries. Early interaction with patient support groups identified data protection as of primary importance in adopting digital platforms for patient diagnosis and care. The first launch of the CPMS was built to accommodate the needs of all ERNs. The ERN ITHACA telemedicine process highlighted a need to customise the CPMS with network-specific requirements. The results of this effort should enhance the CPMS utility for telemedicine services and ERN-specific care outcomes.Conclusions: We present the results of a long and fruitful process of interaction between the ERN ITHACA network lead team and EU officials, software developers and members of 38 EU clinical genetics centres to organise and coordinate direct e-healthcare through a secure, digital platform. The variability of the queries in just the first 28 cases submitted to the ERN ITHACA CPMS is a fair representation of the complexity and rarity of the patients referred, but also proof of the sophisticated and variable service that could be provided through a structured telemedicine approach for patients and families with rare developmental disorders. Web-based approaches are likely to result in increased accessibility to clinical genomic services. [ABSTRACT FROM AUTHOR]

Published
2020
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25. De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

Author

Hiatt, Susan M., primary, Neu, Matthew B., additional, Ramaker, Ryne C., additional, Hardigan, Andrew A., additional, Prokop, Jeremy W., additional, Hancarova, Miroslava, additional, Prchalova, Darina, additional, Havlovicova, Marketa, additional, Prchal, Jan, additional, Stranecky, Viktor, additional, Yim, Dwight K. C., additional, Powis, Zöe, additional, Keren, Boris, additional, Nava, Caroline, additional, Mignot, Cyril, additional, Rio, Marlene, additional, Revah-Politi, Anya, additional, Hemati, Parisa, additional, Stong, Nicholas, additional, Iglesias, Alejandro D., additional, Suchy, Sharon F., additional, Willaert, Rebecca, additional, Wentzensen, Ingrid M., additional, Wheeler, Patricia G., additional, Brick, Lauren, additional, Kozenko, Mariya, additional, Hurst, Anna C. E., additional, Wheless, James W., additional, Lacassie, Yves, additional, Myers, Richard M., additional, Barsh, Gregory S., additional, Sedlacek, Zdenek, additional, and Cooper, Gregory M., additional

Published
2018
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26. De novomutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

Author

Hiatt, Susan M., primary, Neu, Matthew B., additional, Ramaker, Ryne C., additional, Hardigan, Andrew A., additional, Prokop, Jeremy W., additional, Hancarova, Miroslava, additional, Prchalova, Darina, additional, Havlovicova, Marketa, additional, Prchal, Jan, additional, Stranecky, Viktor, additional, Yim, Dwight K.C., additional, Powis, Zöe, additional, Keren, Boris, additional, Nava, Caroline, additional, Mignot, Cyril, additional, Rio, Marlene, additional, Revah-Politi, Anya, additional, Hemati, Parisa, additional, Stong, Nicholas, additional, Iglesias, Alejandro D., additional, Suchy, Sharon F., additional, Willaert, Rebecca, additional, Wentzensen, Ingrid M., additional, Wheeler, Patricia G., additional, Brick, Lauren, additional, Kozenko, Mariya, additional, Hurst, Anna C.E., additional, Wheless, James W., additional, Lacassie, Yves, additional, Myers, Richard M., additional, Barsh, Gregory S., additional, Sedlacek, Zdenek, additional, and Cooper, Gregory M., additional

Published
2018
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27. FOXP1 -related intellectual disability syndrome: a recognisable entity

Author

UCL - (SLuc) Département de biologie clinique et d'anatomie pathologique, UCL - (SLuc) Centre de génétique médicale UCL, Meerschaut, Ilse, Rochefort, Daniel, Revencu, Nicole, Pètre, Justine, Corsello, Christina, Rouleau, Guy A, Hamdan, Fadi F, Michaud, Jacques L, Morton, Jenny, Radley, Jessica, Ragge, Nicola, García-Miñaúr, Sixto, Lapunzina, Pablo, Bralo, Maria Palomares, Mori, Maria Ángeles, Moortgat, Stéphanie, Benoit, Valérie, Mary, Sandrine, Bockaert, Nele, Oostra, Ann, Vanakker, Olivier, Velinov, Milen, de Ravel, Thomy JL, Mekahli, Djalila, Sebat, Jonathan, Vaux, Keith K, DiDonato, Nataliya, Hanson-Kahn, Andrea K, Hudgins, Louanne, Dallapiccola, Bruno, Novelli, Antonio, Tarani, Luigi, Andrieux, Joris, Parker, Michael J, Neas, Katherine, Ceulemans, Berten, Schoonjans, An-Sofie, Prchalova, Darina, Havlovicova, Marketa, Hancarova, Miroslava, Budisteanu, Magdalena, Dheedene, Annelies, Menten, Björn, Dion, Patrick A, Lederer, Damien, Callewaert, Bert, UCL - (SLuc) Département de biologie clinique et d'anatomie pathologique, UCL - (SLuc) Centre de génétique médicale UCL, Meerschaut, Ilse, Rochefort, Daniel, Revencu, Nicole, Pètre, Justine, Corsello, Christina, Rouleau, Guy A, Hamdan, Fadi F, Michaud, Jacques L, Morton, Jenny, Radley, Jessica, Ragge, Nicola, García-Miñaúr, Sixto, Lapunzina, Pablo, Bralo, Maria Palomares, Mori, Maria Ángeles, Moortgat, Stéphanie, Benoit, Valérie, Mary, Sandrine, Bockaert, Nele, Oostra, Ann, Vanakker, Olivier, Velinov, Milen, de Ravel, Thomy JL, Mekahli, Djalila, Sebat, Jonathan, Vaux, Keith K, DiDonato, Nataliya, Hanson-Kahn, Andrea K, Hudgins, Louanne, Dallapiccola, Bruno, Novelli, Antonio, Tarani, Luigi, Andrieux, Joris, Parker, Michael J, Neas, Katherine, Ceulemans, Berten, Schoonjans, An-Sofie, Prchalova, Darina, Havlovicova, Marketa, Hancarova, Miroslava, Budisteanu, Magdalena, Dheedene, Annelies, Menten, Björn, Dion, Patrick A, Lederer, Damien, and Callewaert, Bert

Abstract

BACKGROUND: Mutations in forkhead box protein P1 (FOXP1) cause intellectual disability (ID) and specific language impairment (SLI), with or without autistic features (MIM: 613670). Despite multiple case reports no specific phenotype emerged so far. METHODS: We correlate clinical and molecular data of 25 novel and 23 previously reported patients with FOXP1 defects. We evaluated FOXP1 activity by an in vitro luciferase model and assessed protein stability in vitro by western blotting. RESULTS: Patients show ID, SLI, neuromotor delay (NMD) and recurrent facial features including a high broad forehead, bent downslanting palpebral fissures, ptosis and/or blepharophimosis and a bulbous nasal tip. Behavioural problems and autistic features are common. Brain, cardiac and urogenital malformations can be associated. More severe ID and NMD, sensorineural hearing loss and feeding difficulties are more common in patients with interstitial 3p deletions (14 patients) versus patients with monogenic FOXP1 defects (34 patients). Mutations result in impaired transcriptional repression and/or reduced protein stability. CONCLUSIONS: FOXP1-related ID syndrome is a recognisable entity with a wide clinical spectrum and frequent systemic involvement. Our data will be helpful to evaluate genotype-phenotype correlations when interpreting next-generation sequencing data obtained in patients with ID and/or SLI and will guide clinical management.

Published
2017

28. Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism

Author

Musova, Zuzana, Hancarova, Miroslava, Havlovicova, Marketa, Pourova, Radka, Hrdlicka, Michal, Kraus, Josef, Trkova, Marie, Stejskal, David, and Sedlacek, Zdenek

Subjects
musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, comorbidity, Neuropsychiatric Disease and Treatment, DMPK gene, mental disorders, autism, myotonic dystrophy type 1, Original Research, genetic testing
Abstract

Zuzana Musova,1 Miroslava Hancarova,1 Marketa Havlovicova,1 Radka Pourova,1 Michal Hrdlicka,2 Josef Kraus,3 Marie Trkova,4 David Stejskal,4 Zdenek Sedlacek1 1Department of Biology and Medical Genetics, 2Department of Child Psychiatry, 3Department of Child Neurology, Charles University 2nd Faculty of Medicine and University Hospital Motol, 4Gennet, Centre for Fetal Medicine, Prague, Czech Republic Abstract: Myotonic dystrophy type 1 (DM1) belongs to the broad spectrum of genetic disorders associated with autism spectrum disorders (ASD). ASD were reported predominantly in congenital and early childhood forms of DM1. We describe dizygotic twin boys with ASD who were referred for routine laboratory genetic testing and in whom karyotyping, FMR1 gene testing, and single nucleotide polymorphism array analysis yielded negative results. The father of the boys was later diagnosed with suspected DM1, and testing revealed characteristic DMPK gene expansions in his genome as well as in the genomes of both twins and their elder brother, who also suffered from ASD. In accord with previous reports on childhood forms of DM1, our patients showed prominent neuropsychiatric phenotypes characterized especially by hypotonia, developmental and language delay, emotional and affective lability, lowered adaptability, and social withdrawal. The experience with this family and multiple literature reports of ASD in DM1 on the one side but the lack of literature data on the frequency of DMPK gene expansions in ASD patients on the other side prompted us to screen the DMPK gene in a sample of 330 patients with ASD who were first seen by a geneticist before they were 10 years of age, before the muscular weakness, which may signal DM1, usually becomes obvious. The absence of any DMPK gene expansions in this cohort indicates that targeted DMPK gene testing can be recommended only in ASD patients with specific symptoms or family history suggestive of DM1. Keywords: autism, myotonic dystrophy type 1, DMPK gene, genetic testing, comorbidity

Published
2016

30. Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism

Author

Musova,Zuzana, Hancarova,Miroslava, Havlovicova,Marketa, Pourova,Radka, Hrdlicka,Michal, Kraus,Josef, Trkova,Marie, Stejkal,David, Sedlacek,Zdenek, Musova,Zuzana, Hancarova,Miroslava, Havlovicova,Marketa, Pourova,Radka, Hrdlicka,Michal, Kraus,Josef, Trkova,Marie, Stejkal,David, and Sedlacek,Zdenek

Abstract

Zuzana Musova,1 Miroslava Hancarova,1 Marketa Havlovicova,1 Radka Pourova,1 Michal Hrdlicka,2 Josef Kraus,3 Marie Trkova,4 David Stejskal,4 Zdenek Sedlacek1 1Department of Biology and Medical Genetics, 2Department of Child Psychiatry, 3Department of Child Neurology, Charles University 2nd Faculty of Medicine and University Hospital Motol, 4Gennet, Centre for Fetal Medicine, Prague, Czech Republic Abstract: Myotonic dystrophy type 1 (DM1) belongs to the broad spectrum of genetic disorders associated with autism spectrum disorders (ASD). ASD were reported predominantly in congenital and early childhood forms of DM1. We describe dizygotic twin boys with ASD who were referred for routine laboratory genetic testing and in whom karyotyping, FMR1 gene testing, and single nucleotide polymorphism array analysis yielded negative results. The father of the boys was later diagnosed with suspected DM1, and testing revealed characteristic DMPK gene expansions in his genome as well as in the genomes of both twins and their elder brother, who also suffered from ASD. In accord with previous reports on childhood forms of DM1, our patients showed prominent neuropsychiatric phenotypes characterized especially by hypotonia, developmental and language delay, emotional and affective lability, lowered adaptability, and social withdrawal. The experience with this family and multiple literature reports of ASD in DM1 on the one side but the lack of literature data on the frequency of DMPK gene expansions in ASD patients on the other side prompted us to screen the DMPK gene in a sample of 330 patients with ASD who were first seen by a geneticist before they were 10 years of age, before the muscular weakness, which may signal DM1, usually becomes obvious. The absence of any DMPK gene expansions in this cohort indicates that targeted DMPK gene testing can be recommended only in ASD patients with specific symptoms or family history suggestive of DM1. Keywords: autism, myotonic dystrophy type 1, D

Published
2016

36. FMR1gene expansion, large deletion of Xp, and skewed Xinactivation in a girl with mental retardation and autismHow to Cite this Article: Vazna A, Musova Z, Vlckova M, Novotna D, Dvorakova L, Hrdlicka M, Havlovicova M, Sedlacek Z. 2010. FMR1gene expansion, large deletion of Xp, and skewed Xinactivation in a girl with mental retardation and autism. Am J Med Genet Part A 152A:1273–1277.

Author

Vazna, Alzbeta, Musova, Zuzana, Vlckova, Marketa, Novotna, Dhahuse, Dvorakova, Lenka, Hrdlicka, Michal, Havlovicova, Marketa, and Sedlacek, Zdenek

Abstract

We describe a girl with mild facial anomalies, mild mental retardation, and atypical autism with a remarkable behavioral phenotype of persistent anger, aggression, and dysphoria. The occurrence of lateonset tremor and premature ovarian failure in the maternal branch of the family pointed to a possible defect in the FMR1gene. Indeed, the patient carried a full FMR1mutation. Unexpectedly, both alleles of the gene were almost completely methylated. Cytogenetic examination of the patient revealed in addition a large de novo deletion in band Xp22 on one of her X chromosomes. The deletion was fine mapped using oligonucleotide array CGH, and its breakpoints were localized using sequencing. The size of the deletion was about 17.4 Mb, and it contained more than 90 proteincoding genes. Microsatellite analysis indicated paternal origin of the aberrant chromosome. The large rearrangement was the most probable cause of the Xinactivation skewing, thus explaining the methylation of not only the expanded maternal but also the normal paternal FMR1alleles. This pattern of skewed Xinactivation was confirmed using the analysis of methylation at the ARlocus. The relatively mild phenotype of the patient resulted most likely from unmasking of the FMR1defect. Although the deleted region contained many important genes, the phenotypic contribution of the rearranged X chromosome was probably limited by its almost complete inactivation. However, reduced dose of several genes escaping Xinactivation might also play a role in the phenotype of the patient. © 2010 WileyLiss, Inc.

Published
2010
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37. HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain

Author

Lachlan A. Jolly, Lam Son Nguyen, Pavlína Plevová, Claudio Graziano, Zdenek Sedlacek, Jozef Gecz, Vera M. Kalscheuer, Simon C. Barry, Miroslava Hancarova, Elena Bonora, Ying Sun, Marketa Havlovicova, Deepti Domingo, Tommaso Pippucci, Marketa Vlckova, Jolly, Lachlan A., Nguyen, Lam Son, Domingo, Deepti, Sun, Ying, Barry, Simon, Hancarova, Miroslava, Plevova, Pavlina, Vlckova, Marketa, Havlovicova, Marketa, Kalscheuer, Vera M., Graziano, Claudio, Pippucci, Tommaso, Bonora, Elena, Sedlacek, Zdenek, and Gecz, Jozef

Subjects
Male, Cellular differentiation, Active Transport, Cell Nucleus, Gene Expression, Biology, Small hairpin RNA, Mice, HEK293 Cell, Genetic, Neural Stem Cells, RNA interference, Transduction, Genetic, Intellectual Disability, Genetics, Animals, Humans, Neural Stem Cell, Amino Acid Sequence, RNA, Small Interfering, Molecular Biology, Genetics (clinical), Loss function, Cells, Cultured, Cell Proliferation, Active Transport, Cell Nucleu, Animal, HEK 293 cells, Brain, Cell Differentiation, General Medicine, MMACHC, Neural stem cell, Pedigree, HEK293 Cells, Amino Acid Substitution, Mutation, Female, RNA Interference, Stem cell, Carrier Protein, Carrier Proteins, Oxidoreductases, Host Cell Factor C1, Human
Abstract

Both gain- and loss-of-function mutations have recently implicated HCFC1 in neurodevelopmental disorders. Here, we extend our previous HCFC1 over-expression studies by employing short hairpin RNA to reduce the expression of Hcfc1 in embryonic neural cells. We show that in contrast to over-expression, loss of Hcfc1 favoured proliferation of neural progenitor cells at the expense of differentiation and promoted axonal growth of post-mitotic neurons. To further support the involvement of HCFC1 in neurological disorders, we report two novel HCFC1 missense variants found in individuals with intellectual disability (ID). One of these variants, together with three previously reported HCFC1 missense variants of unknown pathogenicity, were functionally assessed using multiple cell-based assays. We show that three out of the four variants tested result in a partial loss of HCFC1 function. While over-expression of the wild-type HCFC1 caused reduction in HEK293T cell proliferation and axonal growth of neurons, these effects were alleviated upon over-expression of three of the four HCFC1 variants tested. One of these partial loss-of-function variants disrupted a nuclear localization sequence and the resulting protein displayed reduced ability to localize to the cell nucleus. The other two variants displayed negative effects on the expression of the HCFC1 target gene MMACHC, which is responsible for the metabolism of cobalamin, suggesting that these individuals may also be susceptible to cobalamin deficiency. Together, our work identifies plausible cellular consequences of missense HCFC1 variants and identifies likely and relevant disease mechanisms that converge on embryonic stages of brain development.

Published
2014

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