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 · 761 citations · Full text

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

Cristopher V. Van Hout, Ioanna Tachmazidou, Joshua Backman et al. · Nature · 2020 · 608 citations · Full text

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 · 588 citations

Genetics, Genetic Epidemiology, Pathology +24

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 · 421 citations

Family Medicine, Genetic Testing, Exome Sequencing +20

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 · 385 citations · Full text

Rheumatoid Disorder, Rheumatology, Inflammatory Lung Disease +11