Eric Rappaport

Common genetic variants on 5p14.1 associate with autism spectrum disorders

Kai Wang, Haitao Zhang, Deqiong Ma et al. · Nature · 2009 · 968 citations · Full text

Neurodevelopmental Disorders, Syndromic Autism, Genetic Disorder +7

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

Ian D. Krantz, Jennifer McCallum, Cheryl DeScipio et al. · Nature Genetics · 2004 · 715 citations · Full text

Genome Instability, Developmental Biology, Genetic Disorder +8

Connexin-26 mutations in sporadic and inherited sensorineural deafness

Xavier Estivill, Paolo Fortina, Saul Surrey et al. · The Lancet · 1998 · 642 citations · Full text

A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene

Håkon Håkonarson, Struan F.A. Grant, Jonathan P. Bradfield et al. · Nature · 2007 · 547 citations

Genome-wide Association Study, Type 1, Genetic Determinant +9

Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes

Josephine Elia, Xiaowu Gai, Hongbo Xie et al. · Molecular Psychiatry · 2009 · 526 citations · Full text

Genetics, Disease Gene Identification, Social Sciences +19