Duplication of the 15q11-q13 region: Clinical and genetic study of 30 new cases

Autism or atypical autism in maternally but not paternally derived proximal 15q duplication.

Edwin H. Cook, V Lindgren, Bennett Leventhal et al. · PubMed · 1997 · 650 citations

Life Sciences, Genetics, Molecular Genetics +14

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

Giulia Barcia, Matthew R. Fleming, Aline Deligniere et al. · Nature Genetics · 2012 · 528 citations · Full text

Life Sciences, Genetics, Neuroscience +14

Autism and maternally derived aberrations of chromosome 15q

Richard J. Schroer, Mary C. Phelan, Ron C. Michaelis et al. · American Journal of Medical Genetics · 1998 · 372 citations

Life Sciences, Genetics, Molecular Genetics +15

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay

Rachel D. Burnside, Romela Pasion, Fady M. Mikhail et al. · Human Genetics · 2011 · 255 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Inherited Interstitial Duplications of Proximal 15q: Genotype-Phenotype Correlations

C.E. Browne, N R Dennis, E.R. Maher et al. · The American Journal of Human Genetics · 1997 · 208 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16