Claudia Gonzaga‐Jauregui

Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

James R. Lupski, Jeffrey G. Reid, Claudia Gonzaga‐Jauregui et al. · New England Journal of Medicine · 2010 · 764 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Exome sequencing and characterization of 49,960 individuals in the UK Biobank

Cristopher V. Van Hout, Ioanna Tachmazidou, Joshua Backman et al. · Nature · 2020 · 630 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study

Frederick E. Dewey, Michael F. Murray, John D. Overton et al. · Science · 2016 · 602 citations

Medicine, Genetics, Molecular Genetics +17

Genetic identification of familial hypercholesterolemia within a single U.S. health care system

Noura S. Abul‐Husn, Kandamurugu Manickam, Laney K. Jones et al. · Science · 2016 · 428 citations

Medicine, Cardiology, Genetics +17

COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

Levi B. Watkin, Birthe Jessen, Wojciech Wiszniewski et al. · Nature Genetics · 2015 · 399 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11