Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.

Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, Davis L, Wright NR, Dhodapkar RM, DiCola M, DiLullo NM, Fernandez TV, Fielding-Singh V, Fishman DO, Frahm S, Garagaloyan R, Goh GS, Kammela S, Klei L, Lowe JK, Lund SC, McGrew AD, Meyer KA, Moffat WJ, Murdoch JD, O'Roak BJ, Ober GT, Pottenger RS, Raubeson MJ, Song Y, Wang Q, Yaspan BL, Yu TW, Yurkiewicz IR, Beaudet AL, Cantor RM, Curland M, Grice DE, G√ľnel M, Lifton RP, Mane SM, Martin DM, Shaw CA, Sheldon M, Tischfield JA, Walsh CA, Morrow EM, Ledbetter DH, Fombonne E, Lord C, Martin CL, Brooks AI, Sutcliffe JS, Cook EH, Geschwind D, Roeder K, Devlin B, State MW
Neuron. 2011 70 (5): 863-85

PMID: 21658581 · PMCID: PMC3939065 · DOI:10.1016/j.neuron.2011.05.002

MeSH Terms (28)

Adolescent Cadherins Calcium-Binding Proteins Cell Adhesion Molecules, Neuronal Child Child, Preschool Child Development Disorders, Pervasive Chromosomes, Human, Pair 7 Chromosomes, Human, Pair 16 Chromosomes, Human, X DNA Copy Number Variations Family Health Female Gene Duplication Gene Expression Profiling Genome-Wide Association Study Genotype Humans Male Nerve Tissue Proteins Neural Cell Adhesion Molecules Oligonucleotide Array Sequence Analysis Phenotype Proteins Siblings Ubiquitin-Specific Peptidase 7 Ubiquitin Thiolesterase Williams Syndrome

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