A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizuresAndrew J. Sharp, Evan E. Eichler, Cátálin Bárbácioru et al.|Nature Genetics|2008Cited by 591
Autism and maternally derived aberrations of chromosome 15qRichard J. Schroer, Roger E. Stevenson, Mary C. Phelan et al.|American Journal of Medical Genetics|1998Cited by 372
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardationPatrick Tarpey, Martin Bobrow, F. Lucy Raymond et al.|Nature Genetics|2007Cited by 294
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disordersLuigi Boccuto, Charles E. Schwartz, Maria Lauri et al.|European Journal of Human Genetics|2012Cited by 248
Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and MacrocephalyMaila Giannandrea, Patrizia D’Adamo, Veronica Bianchi et al.|The American Journal of Human Genetics|2010Cited by 238