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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: calabretta s. 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.
A human DCC variant causing mirror movement disorder reveals that the WAVE regulatory complex mediates axon guidance by netrin-1-DCC.
Chaudhari K, Zhang K, Yam PT, Zang Y, Kramer DA, Gagnon S, Schlienger S, Calabretta S, Michaud JF, Collins M, Wang J, Srour M, Chen B, Charron F, Bashaw GJ. Chaudhari K, et al. Among authors: calabretta s. Sci Signal. 2024 Oct;17(856):eadk2345. doi: 10.1126/scisignal.adk2345. Epub 2024 Oct 1. Sci Signal. 2024. PMID: 39353037 Free PMC article.