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Depienne, Christel; Ciura, Sorana; Trouillard, Oriane; Bouteiller, Delphine; Leitão, Elsa; Nava, Caroline; Keren, Boris; Marie, Yannick; Guegan, Justine; Forlani, Sylvie; Brice, Alexis; Anheim, Mathieu; Agid, Yves; Krack, Paul; Damier, Philippe; Viallet, François; Houeto, Jean-Luc; Durif, Franck; Vidailhet, Marie; Worbe, Yulia; ... (2023). Correction: Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome. Tremor and other hyperkinetic movements, 13(22), p. 22. Columbia University Libraries 10.5334/tohm.792
Mannucci, Ilaria; Dang, Nghi D P; Huber, Hannes; Murry, Jaclyn B; Abramson, Jeff; Althoff, Thorsten; Banka, Siddharth; Baynam, Gareth; Bearden, David; Beleza-Meireles, Ana; Benke, Paul J; Berland, Siren; Bierhals, Tatjana; Bilan, Frederic; Bindoff, Laurence A; Braathen, Geir Julius; Busk, Øyvind L; Chenbhanich, Jirat; Denecke, Jonas; Escobar, Luis F; ... (2021). Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. Genome medicine, 13(1), p. 90. BioMed Central 10.1186/s13073-021-00900-3
Depienne, Christel; Ciura, Sorana; Trouillard, Oriane; Bouteiller, Delphine; Leitã O, Elsa; Nava, Caroline; Keren, Boris; Marie, Yannick; Guegan, Justine; Forlani, Sylvie; Brice, Alexis; Anheim, Mathieu; Agid, Yves; Krack, Paul; Damier, Philippe; Viallet, François; Houeto, Jean-Luc; Durif, Franck; Vidailhet, Marie; Worbe, Yulia; ... (2019). Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome. Tremor and other hyperkinetic movements, 9 Columbia University Libraries 10.7916/tohm.v0.693
Shashi, Vandana; Magiera, Maria M; Klein, Dennis; Zaki, Maha; Schoch, Kelly; Rudnik-Schöneborn, Sabine; Norman, Andrew; Lopes Abath Neto, Osorio; Dusl, Marina; Yuan, Xidi; Bartesaghi, Luca; De Marco, Patrizia; Alfares, Ahmed A; Marom, Ronit; Arold, Stefan T; Guzmán-Vega, Francisco J; Pena, Loren Dm; Smith, Edward C; Steinlin, Maja; Babiker, Mohamed Oe; ... (2018). Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration. The EMBO Journal, 37(23) EMBO Press 10.15252/embj.2018100540
Guella, Ilaria; McKenzie, Marna B; Evans, Daniel M; Bürki, Sarah Elisabeth; Toyota, Eric B; Van Allen, Margot I; Epilepsy Genomics Study, Study; Suri, Mohnish; Elmslie, Frances; Deciphering Developmental Disorders, Study; Simon, Marleen E H; van Gassen, Koen L I; Héron, Delphine; Keren, Boris; Nava, Caroline; Connolly, Mary B; Demos, Michelle; Farrer, Matthew J (2017). De Novo Mutations in YWHAG Cause Early-Onset Epilepsy. American journal of human genetics, 101(2), pp. 300-310. Cell Press 10.1016/j.ajhg.2017.07.004
Adamsen, Dea; Ramaekers, Vincent; Ho, Horace Tb; Britschgi, Corinne; Rüfenacht, Véronique; Meili, David; Bobrowski, Elise; Philippe, Paule; Nava, Caroline; Van Maldergem, Lionel; Bruggmann, Rémy; Walitza, Susanne; Wang, Joanne; Grünblatt, Edna; Thöny, Beat (2014). Autism spectrum disorder associated with low serotonin in CSF and mutations in the SLC29A4 plasma membrane monoamine transporter (PMAT) gene. Molecular autism, 5(43), p. 43. BioMed Central 10.1186/2040-2392-5-43