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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.
Accogli A, Calabretta S, St-Onge J, Boudrahem-Addour N, Dionne-Laporte A, Joset P, Azzarello-Burri S, Rauch A, Krier J, Fieg E, Pallais JC; Undiagnosed Diseases Network; McConkie-Rosell A, McDonald M, Freedman SF, Rivière JB, Lafond-Lapalme J, Simpson BN, Hopkin RJ, Trimouille A, Van-Gils J, Begtrup A, McWalter K, Delphine H, Keren B, Genevieve D, Argilli E, Sherr EH, Severino M, Rouleau GA, Yam PT, Charron F, Srour M. Accogli A, et al. Among authors: charron f. Am J Hum Genet. 2019 Oct 3;105(4):854-868. doi: 10.1016/j.ajhg.2019.09.005. Am J Hum Genet. 2019. PMID: 31585109 Free PMC article.
Mutations in DCC cause congenital mirror movements.
Srour M, Rivière JB, Pham JM, Dubé MP, Girard S, Morin S, Dion PA, Asselin G, Rochefort D, Hince P, Diab S, Sharafaddinzadeh N, Chouinard S, Théoret H, Charron F, Rouleau GA. Srour M, et al. Among authors: charron f. Science. 2010 Apr 30;328(5978):592. doi: 10.1126/science.1186463. Science. 2010. PMID: 20431009
Cellular Functions of the Autism Risk Factor PTCHD1 in Mice.
Tora D, Gomez AM, Michaud JF, Yam PT, Charron F, Scheiffele P. Tora D, et al. Among authors: charron f. J Neurosci. 2017 Dec 6;37(49):11993-12005. doi: 10.1523/JNEUROSCI.1393-17.2017. Epub 2017 Nov 8. J Neurosci. 2017. PMID: 29118110 Free PMC article.
92 results