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De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
Chilton I, Okur V, Vitiello G, Selicorni A, Mariani M, Goldenberg A, Husson T, Campion D, Lichtenbelt KD, van Gassen K, Steinraths M, Rice J, Roeder ER, Littlejohn RO, Srour M, Sebire G, Accogli A, Héron D, Heide S, Nava C, Depienne C, Larson A, Niyazov D, Azage M, Hoganson G, Burton J, Rush ET, Jenkins JL, Saunders CJ, Thiffault I, Alaimo JT, Fleischer J, Groepper D, Gripp KW, Chung WK. Chilton I, et al. Among authors: rice j. Am J Med Genet A. 2020 May;182(5):962-973. doi: 10.1002/ajmg.a.61505. Epub 2020 Feb 7. Am J Med Genet A. 2020. PMID: 32031333
Factors associated with experiences of genetic discrimination among individuals at risk for Huntington disease.
Bombard Y, Palin J, Friedman JM, Veenstra G, Creighton S, Paulsen JS, Bottorff JL, Hayden MR; Canadian Respond-HD Collaborative Research Group. Bombard Y, et al. Am J Med Genet B Neuropsychiatr Genet. 2011 Jan;156B(1):19-27. doi: 10.1002/ajmg.b.31130. Epub 2010 Nov 10. Am J Med Genet B Neuropsychiatr Genet. 2011. PMID: 21184581 Free PMC article.
2,516 results