A 65 kilobase deletion of the upstream TYR gene region in a family with oculocutaneous albinism type 1 von Diallo, Modibo, Defay-Stinat, Alicia, Gindensperger, Victor, Sequeira, Angèle, Trimouille, Aurélien, Javerzat, Sophie, Bourgeade, Laetitia, Plaisant, Claudio, Lasseaux, Eulalie, Michaud, Vincent, Drumare, Isabelle, Arveiler, Benoit

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Hemidystonia with polymicrogyria is part of ATP1A3-related disorders von Lacombe, Didier, Van-Gils, Julien, Lebrun, Marine, Trimouille, Aurélien, Michaud, Vincent, Cabet, Sara, Chateil, Jean-François, Pedespan, Jean-Michel, Bar, Claire, Lesca, Gaetan

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Adult onset tubulo‐interstitial nephropathy in MT‐ND5‐related phenotypes von Bakis, Hugo, Trimouille, Aurélien, Vermorel, Agathe, Redonnet, Isabelle, Goizet, Cyril, Boulestreau, Romain, Lacombe, Didier, Combe, Christian, Martin‐Négrier, Marie‐Laure, Rigothier, Claire

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Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia von Durand, Christelle M, Angelini, Chloé, Michaud, Vincent, Delleci, Claire, Coupry, Isabelle, Goizet, Cyril, Trimouille, Aurelien

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Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant von Angelini, Chloé, Van Gils, Julien, Bigourdan, Antoine, Jouk, Pierre-Simon, Lacombe, Didier, Menegon, Patrice, Moutton, Sébastien, Riant, Florence, Sole, Guilhem, Tournier-Lasserve, Elisabeth, Trimouille, Aurélien, Vincent, Marie, Goizet, Cyril

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De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy von Nabais Sá, Maria J., Venselaar, Hanka, Wiel, Laurens, Trimouille, Aurélien, Lasseaux, Eulalie, Naudion, Sophie, Lacombe, Didier, Piton, Amélie, Vincent-Delorme, Catherine, Zweier, Christiane, Reis, André, Trollmann, Regina, Ruiz, Anna, Gabau, Elisabeth, Vetro, Annalisa, Guerrini, Renzo, Bakhtiari, Somayeh, Kruer, Michael C., Amor, David J., Cooper, Monica S., Bijlsma, Emilia K., Barakat, Tahsin Stefan, van Dooren, Marieke F., van Slegtenhorst, Marjon, Pfundt, Rolph, Gilissen, Christian, Willemsen, Michèl A., de Vries, Bert B.A., de Brouwer, Arjan P.M., Koolen, David A.

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A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis von de Boer, Elke, Ockeloen, Charlotte W, Matalonga, Leslie, Horvath, Rita, Rodenburg, Richard J, Coenen, Marieke J H, Janssen, Mirian, Henssen, Dylan, Gilissen, Christian, Steyaert, Wouter, Paramonov, Ida, Trimouille, Aurélien, Kleefstra, Tjitske, Verloes, Alain, Vissers, Lisenka E L M

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Description of a family with X‐linked oculo‐auriculo‐vertebral spectrum associated with polyalanine tract expansion in ZIC3 von Trimouille, Aurélien, Tingaud‐Sequeira, Angèle, Lacombe, Didier, Duelund Hjortshøj, Tina, Kreiborg, Sven, Buciek Hove, Hanne, Rooryck, Caroline

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Mutation on MT-CO2 gene induces mitochondrial disease associated with neurodegeneration and intracerebral iron accumulation (NBIA) von Courtois, Sarah, Angelini, Chloé, M. Durand, Christelle, Dias Amoedo, Nivea, Courreges, Armelle, Dumon, Elodie, Le Quang, Mégane, Goizet, Cyril, Martin-Negrier, Marie-Laure, Rossignol, Rodrigue, Lacombe, Didier, Coupry, Isabelle, Trimouille, Aurélien

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Triple diagnosis of Wiedemann‐Steiner, Waardenburg and DLG3‐related intellectual disability association found by WES: A case report von Matis, Thibaut, Michaud, Vincent, Van‐Gils, Julien, Raclet, Virginie, Plaisant, Claudio, Fergelot, Patricia, Lasseaux, Eulalie, Arveiler, Benoit, Trimouille, Aurélien

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De novo variants in ATP2B1 lead to neurodevelopmental delay von Rahimi, Meer Jacob, Urban, Nicole, Wegler, Meret, Sticht, Heinrich, Schaefer, Michael, Popp, Bernt, Gaunitz, Frank, Morleo, Manuela, Nigro, Vincenzo, Maitz, Silvia, Mancini, Grazia M S, Ruivenkamp, Claudia, Suk, Eun-Kyung, Bartolomaeus, Tobias, Merkenschlager, Andreas, Koboldt, Daniel, Bartholomew, Dennis, Stegmann, Alexander P A, Sinnema, Margje, Duynisveld, Irma, Salvarinova, Ramona, Race, Simone, de Vries, Bert B A, Trimouille, Aurélien, Naudion, Sophie, Marom, Daphna, Hamiel, Uri, Henig, Noa, Demurger, Florence, Rahner, Nils, Bartels, Enrika, Hamm, J Austin, Putnam, Abbey M, Person, Richard, Abou Jamra, Rami, Oppermann, Henry

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Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia von Barish, Scott, Lin, Sheng-Jia, Maroofian, Reza, Gezdirici, Alper, Alhebby, Hamoud, Trimouille, Aurélien, Biderman Waberski, Marta, Mitani, Tadahiro, Huber, Ilka, Tveten, Kristian, Holla, Øystein L., Busk, Øyvind L., Houlden, Henry, Ghayoor Karimiani, Ehsan, Beiraghi Toosi, Mehran, Shervin Badv, Reza, Najarzadeh Torbati, Paria, Eghbal, Fatemeh, Akhondian, Javad, Al Safar, Ayat, Alswaid, Abdulrahman, Zifarelli, Giovanni, Bauer, Peter, Marafi, Dana, Fatih, Jawid M., Huang, Kevin, Petree, Cassidy, Calame, Daniel G., von der Lippe, Charlotte, Alkuraya, Fowzan S., Wali, Sami, Lupski, James R., Varshney, Gaurav K., Posey, Jennifer E., Pehlivan, Davut

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De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects von Accogli, Andrea, Calabretta, Sara, St-Onge, Judith, Boudrahem-Addour, Nassima, Dionne-Laporte, Alexandre, Joset, Pascal, Azzarello-Burri, Silvia, Rauch, Anita, Krier, Joel, Fieg, Elizabeth, Pallais, Juan C, McConkie-Rosell, Allyn, McDonald, Marie, Freedman, Sharon F, Rivière, Jean-Baptiste, Lafond-Lapalme, Joël, Simpson, Brittany N, Hopkin, Robert J, Trimouille, Aurélien, Van-Gils, Julien, Begtrup, Amber, McWalter, Kirsty, Delphine, Heron, Keren, Boris, Genevieve, David, Argilli, Emanuela, Sherr, Elliott H, Severino, Mariasavina, Rouleau, Guy A, Yam, Patricia T, Charron, Frédéric, Srour, Myriam

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TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions von Almousa, Hashem, Lewis, Sara A, Bakhtiari, Somayeh, Nordlie, Sandra Hinz, Pagnozzi, Alex, Magee, Helen, Efthymiou, Stephanie, Heim, Jennifer A, Cornejo, Patricia, Zaki, Maha S, Anwar, Najwa, Maqbool, Shazia, Rahman, Fatima, Neilson, Derek E, Vemuri, Anusha, Jin, Sheng Chih, Yang, Xiao-Ru, Heidari, Abolfazl, van Gassen, Koen, Trimouille, Aurélien, Thauvin-Robinet, Christel, Liu, James, Bruel, Ange-Line, Tomoum, Hoda, Shata, Mennatallah O, Hashem, Mais O, Toosi, Mehran Beiraghi, Karimiani, Ehsan Ghayoor, Yeşil, Gözde, Lingappa, Lokesh, Baruah, Debangana, Ebrahimzadeh, Farnoosh, Van-Gils, Julien, Faivre, Laurence, Zamani, Mina, Galehdari, Hamid, Sadeghian, Saeid, Shariati, Gholamreza, Mohammad, Rahema, van der Smagt, Jasper, Qari, Alya, Vincent, John B, Innes, A Micheil, Dursun, Ali, Özgül, R Köksal, Akar, Halil Tuna, Bilguvar, Kaya, Mignot, Cyril, Keren, Boris, Raveli, Claudia, Burglen, Lydie, Afenjar, Alexandra, Kaat, Laura Donker, van Slegtenhorst, Marjon, Alkuraya, Fowzan, Houlden, Henry, Padilla-Lopez, Sergio, Maroofian, Reza, Sacher, Michael, Kruer, Michael C

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Implication of folate deficiency in CYP2U1 loss of function von Pujol, Claire, Legrand, Anne, Parodi, Livia, Thomas, Priscilla, Mochel, Fanny, Saracino, Dario, Coarelli, Giulia, Croon, Marijana, Popovic, Milica, Valet, Manon, Villain, Nicolas, Elshafie, Shahira, Issa, Mahmoud, Zuily, Stephane, Renaud, Mathilde, Marelli-Tosi, Cécilia, Legendre, Marine, Trimouille, Aurélien, Kemlin, Isabelle, Mathieu, Sophie, Gleeson, Joseph G, Lamari, Foudil, Galatolo, Daniele, Alkouri, Rana, Tse, Chantal, Rodriguez, Diana, Ewenczyk, Claire, Fellmann, Florence, Kuntzer, Thierry, Blond, Emilie, El Hachimi, Khalid H, Darios, Frédéric, Seyer, Alexandre, Gazi, Anastasia D, Giavalisco, Patrick, Perin, Silvina, Boucher, Jean-Luc, Le Corre, Laurent, Santorelli, Filippo M, Goizet, Cyril, Zaki, Maha S, Picaud, Serge, Mourier, Arnaud, Steculorum, Sophie Marie, Mignot, Cyril, Durr, Alexandra, Trifunovic, Aleksandra, Stevanin, Giovanni

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Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders von Husson, Thomas, Lecoquierre, François, Nicolas, Gaël, Richard, Anne-Claire, Afenjar, Alexandra, Audebert-Bellanger, Séverine, Badens, Catherine, Bilan, Frédéric, Bizaoui, Varoona, Boland, Anne, Bonnet-Dupeyron, Marie-Noëlle, Brischoux-Boucher, Elise, Bonnet, Céline, Bournez, Marie, Boute, Odile, Brunelle, Perrine, Caumes, Roseline, Charles, Perrine, Chassaing, Nicolas, Chatron, Nicolas, Cogné, Benjamin, Colin, Estelle, Cormier-Daire, Valérie, Dard, Rodolphe, Dauriat, Benjamin, Delanne, Julian, Deleuze, Jean-François, Demurger, Florence, Denommé-Pichon, Anne-Sophie, Depienne, Christel, Dieux, Anne, Dubourg, Christèle, Edery, Patrick, El Chehadeh, Salima, Faivre, Laurence, Fergelot, Patricia, Fradin, Mélanie, Garde, Aurore, Geneviève, David, Gilbert-Dussardier, Brigitte, Goizet, Cyril, Goldenberg, Alice, Gouy, Evan, Guerrot, Anne-Marie, Guimier, Anne, Harzalla, Inès, Héron, Delphine, Isidor, Bertrand, Lacombe, Didier, Le Guillou Horn, Xavier, Keren, Boris, Kuechler, Alma, Lacaze, Elodie, Lavillaureix, Alinoë, Lehalle, Daphné, Lesca, Gaëtan, Lespinasse, James, Levy, Jonathan, Lyonnet, Stanislas, Morel, Godeliève, Jean-Marçais, Nolwenn, Marlin, Sandrine, Marsili, Luisa, Mignot, Cyril, Nambot, Sophie, Nizon, Mathilde, Olaso, Robert, Pasquier, Laurent, Perrin, Laurine, Petit, Florence, Pingault, Veronique, Piton, Amélie, Prieur, Fabienne, Putoux, Audrey, Planes, Marc, Odent, Sylvie, Quélin, Chloé, Quemener-Redon, Sylvia, Rama, Mélanie, Rio, Marlène, Rossi, Massimiliano, Schaefer, Elise, Rondeau, Sophie, Saugier-Veber, Pascale, Smol, Thomas, Sigaudy, Sabine, Touraine, Renaud, Mau-Them, Frederic Tran, Trimouille, Aurélien, Van Gils, Julien, Vanlerberghe, Clémence, Vantalon, Valérie, Vera, Gabriella, Vincent, Marie, Ziegler, Alban, Guillin, Olivier, Campion, Dominique, Charbonnier, Camille

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CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease von Angelini, Chloé, Trimouille, Aurélien, Arveiler, Benoit, Espil-Taris, Caroline, Ichinose, Nobuyasu, Lasseaux, Eulalie, Tourdias, Thomas, Lacombe, Didier

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Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects von Duncan, Anna R., Vitobello, Antonio, Collins, Stephan C., Vancollie, Valerie E., Lelliott, Christopher J., Rodan, Lance, Shi, Jiahai, Seman, Ann R., Agolini, Emanuele, Novelli, Antonio, Prontera, Paolo, Guillen Sacoto, Maria J., Santiago-Sim, Teresa, Trimouille, Aurélien, Goizet, Cyril, Nizon, Mathilde, Bruel, Ange-Line, Philippe, Christophe, Grant, Patricia E., Wojcik, Monica H., Stoler, Joan, Genetti, Casie A., van Dooren, Marieke F., Maas, Saskia M., Alders, Marielle, Faivre, Laurence, Sorlin, Arthur, Yoon, Grace, Yalcin, Binnaz, Agrawal, Pankaj B.

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Wells syndrome and acquired cutis laxa: An atypical association von Bouquerel, Margot, Dequidt, Laure, Jullie, Marie-Laure, Beltzung, Fanny, Gibier, Jean-Baptiste, Lefevre, Guillaume, Dezoteux, Frederic, Morice-Picard, Fanny, Trimouille, Aurelien, Doutre, Marie-Sylvie

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Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders von Bris, Celine, Goudenège, David, Desquiret-Dumas, Valerie, Gueguen, Naig, Bannwarth, Sylvie, Gaignard, Pauline, Rucheton, Benoit, Trimouille, Aurelien, Allouche, Stephane, Rouzier, Cecile, Saadi, Samira, Jardel, Claude, Slama, Abdel, Barth, Magalie, Verny, Christophe, Spinazzi, Marco, Cassereau, Julien, Colin, Estelle, Armelle, Magot, Pereon, Yann, Martin-Negrier, Marie Laure, Paquis-Flucklinger, Veronique, Letournel, Franck, Lenaers, Guy, Bonneau, Dominique, Reynier, Pascal, Amati-Bonneau, Patrizia, Procaccio, Vincent

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