Nicholas Katsanis

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

Bart Loeys, Junji Chen, Enid Neptune et al. · Nature Genetics · 2005 · 1.8K citations · Full text

Dentistry, Developmental Biology, Genetics +14

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

Lars G. Fritsche, Wilmar Igl, Jessica N. Cooke Bailey et al. · Nature Genetics · 2015 · 1.6K citations · Full text

Life Sciences, Genetics, Ophthalmology +13

Gene expression elucidates functional impact of polygenic risk for schizophrenia

Menachem Fromer, Panos Roussos, Solveig K. Sieberts et al. · Nature Neuroscience · 2016 · 1.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

Raphael Bernier, Christelle Golzio, Bo Xiong et al. · Cell · 2014 · 820 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Comparative Genomics Identifies a Flagellar and Basal Body Proteome that Includes the BBS5 Human Disease Gene

Jin Billy Li, Jantje M. Gerdes, Courtney J. Haycraft et al. · Cell · 2004 · 768 citations · Full text

Life Sciences, Bioinformatics, Molecular Biology +14