Biochemical consequences of two clinically relevant ND-gene mutations in Escherichia coli respiratory complex I by Nuber, Franziska, Schimpf, Johannes, di Rago, Jean-Paul, Tribouillard-Tanvier, Déborah, Procaccio, Vincent, Martin-Negrier, Marie-Laure, Trimouille, Aurélien, Biner, Olivier, von Ballmoos, Christoph, Friedrich, Thorsten

Get full text

A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum by Tingaud-Sequeira, Angèle, Trimouille, Aurélien, Salaria, Manju, Stapleton, Rachel, Claverol, Stéphane, Plaisant, Claudio, Bonneu, Marc, Lopez, Estelle, Arveiler, Benoit, Lacombe, Didier, Rooryck, Caroline

Get full text

Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS by Tingaud‐Sequeira, Angèle, Trimouille, Aurélien, Marlin, Sandrine, Lopez, Estelle, Berenguer, Marie, Gherbi, Souad, Arveiler, Benoit, Lacombe, Didier, Rooryck, Caroline

Get full text

Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis by 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

Get full text

A 65 kilobase deletion of the upstream TYR gene region in a family with oculocutaneous albinism type 1 by 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

Get full text

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

Get full text

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

Get full text

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

Get full text

Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders by 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, Trimouille, Aurelién, Sowmyalakshmi, Rasika, Dallapiccola, Bruno, Renieri, Alessandra, Faivre, Laurence, Kerr, Bronwyn, Verloes, Alain, Clayton-Smith, Jill, Douzgou, Sofia

Get full text

Mutation on MT-CO2 gene induces mitochondrial disease associated with neurodegeneration and intracerebral iron accumulation (NBIA) by 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

Get full text

Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant by 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

Get full text

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

Get full text

De novo variants in ATP2B1 lead to neurodevelopmental delay by 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

Get full text

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

Get full text

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects by 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

Get full text

TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions by 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

Get full text

Implication of folate deficiency in CYP2U1 loss of function by 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

Get full text

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders by 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

Get full text

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

Get full text

Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects by 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.

Get full text