Suzanne M. Leal

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

Jacob A. Tennessen, Abigail W. Bigham, Timothy D. O’Connor et al. · Science · 2012 · 1.7K citations

Life Sciences, Genetics, Molecular Genetics +17

Methods for Detecting Associations with Rare Variants for Common Diseases: Application to Analysis of Sequence Data

Bingshan Li, Suzanne M. Leal · The American Journal of Human Genetics · 2008 · 1.6K citations · Full text

Life Sciences, Bioinformatics, Genetics +16

Guidelines for investigating causality of sequence variants in human disease

Daniel G. MacArthur, Teri A. Manolio, David Dimmock et al. · Nature · 2014 · 1.3K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Single-nucleotide polymorphism in the human mu opioid receptor gene alters β-endorphin binding and activity: Possible implications for opiate addiction

Cherie E. Bond, K. Steven LaForge, Mingting Tian et al. · Proceedings of the National Academy of Sciences · 1998 · 1.1K citations

Medicine, Molecular Genetics, Pharmacology +17

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

Wenqing Fu, Timothy D. O’Connor, Goo Jun et al. · Nature · 2012 · 1K citations · Full text

Life Sciences, Genetics, Molecular Biology +7