James R. Lupski

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

Yaping Yang, Donna M. Muzny, Jeffrey G. Reid et al. · New England Journal of Medicine · 2013 · 2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The complete genome of an individual by massively parallel DNA sequencing

David A. Wheeler, Maithreyan Srinivasan, Yufeng Shen et al. · Nature · 2008 · 1.8K citations · Full text

Life Sciences, Genetics, Molecular Biology +12

Genomic fingerprinting of bacteria using repetitive sequence-based polymerase chain reaction

James Versalovic, Michel Schneider, Frans J. de Bruijn et al. · 1994 · 1.7K citations

Life Sciences, Genetics, Microbiology +14

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

Yaping Yang, Donna M. Muzny, Fan Xia et al. · JAMA · 2014 · 1.4K citations

Life Sciences, Genetics, Molecular Genetics +17

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

James R. Lupski, Roberto Montes‐de‐Oca‐Luna, Susan Slaugenhaupt et al. · Cell · 1991 · 1.3K citations

Life Sciences, Genetics, Molecular Genetics +14