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Novel de novo SHANK3 mutation in autistic patients.
Gauthier J, Spiegelman D, Piton A, Lafrenière RG, Laurent S, St-Onge J, Lapointe L, Hamdan FF, Cossette P, Mottron L, Fombonne E, Joober R, Marineau C, Drapeau P, Rouleau GA. Gauthier J, et al. Am J Med Genet B Neuropsychiatr Genet. 2009 Apr 5;150B(3):421-4. doi: 10.1002/ajmg.b.30822. Am J Med Genet B Neuropsychiatr Genet. 2009. PMID: 18615476
De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.
Gauthier J, Champagne N, Lafrenière RG, Xiong L, Spiegelman D, Brustein E, Lapointe M, Peng H, Côté M, Noreau A, Hamdan FF, Addington AM, Rapoport JL, Delisi LE, Krebs MO, Joober R, Fathalli F, Mouaffak F, Haghighi AP, Néri C, Dubé MP, Samuels ME, Marineau C, Stone EA, Awadalla P, Barker PA, Carbonetto S, Drapeau P, Rouleau GA; S2D Team. Gauthier J, et al. Proc Natl Acad Sci U S A. 2010 Apr 27;107(17):7863-8. doi: 10.1073/pnas.0906232107. Epub 2010 Apr 12. Proc Natl Acad Sci U S A. 2010. PMID: 20385823 Free PMC article.