Catherine A. Brownstein

Sharing Health Data for Better Outcomes on PatientsLikeMe

Paul Wicks, Michael P. Massagli, Jeana Frost et al. · Journal of Medical Internet Research · 2010 · 631 citations · Full text

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

Anthony Philippakis, Danielle R. Azzariti, Sergi Beltrán et al. · Human Mutation · 2015 · 468 citations · Full text

Genetics, Genetic Epidemiology, Databases +21

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Catherine A. Brownstein, Alan H. Beggs, Nils Homer et al. · Genome biology · 2014 · 432 citations · Full text

A translocation causing increased α-Klotho level results in hypophosphatemic rickets and hyperparathyroidism

Catherine A. Brownstein, F.T. Adler, Carol Nelson‐Williams et al. · Proceedings of the National Academy of Sciences · 2008 · 239 citations · Full text

Parathyroid Disease, Pathology, α-Klotho Level Results +19

Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

Gianina Ravenscroft, Satoko Miyatake, Vilma‐Lotta Lehtokari et al. · The American Journal of Human Genetics · 2013 · 220 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +4