James S. Sutcliffe

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

Annemieke J.M.H. Verkerk, Maura Pieretti, James S. Sutcliffe et al. · Cell · 1991 · 3.5K citations

Life Sciences, Genetics, Molecular Genetics +12

Synaptic, transcriptional and chromatin genes disrupted in autism

Silvia De Rubeis, Xin He, Arthur P. Goldberg et al. · Nature · 2014 · 2.9K citations · Full text

Life Sciences, Genetics, Neuroscience +12

Strong Association of De Novo Copy Number Mutations with Autism

Jonathan Sebat, B. Lakshmi, Dheeraj Malhotra et al. · Science · 2007 · 2.8K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

F. Kyle Satterstrom, Jack A. Kosmicki, Jiebiao Wang et al. · Cell · 2020 · 2.5K citations · Full text

Medicine, Genetics, Neurobiology +17

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

Ying‐Hui Fu, Derek P.A. Kuhl, Antonio Pizzuti et al. · Cell · 1991 · 2.1K citations

Life Sciences, Genetics, Molecular Genetics +8