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 · 635 citations · Full text

Pharmacy, Biomedical Informatics, Health Informatics +17

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

Anthony Philippakis, Danielle R. Azzariti, Sergi Beltrán et al. · Human Mutation · 2015 · 488 citations · Full text

Life Sciences, Bioinformatics, Genetics +13

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

Life Sciences, Genetics, Molecular Genetics +17

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 · 241 citations · Full text

Medicine, Endocrinology, Physiology +17

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 · 224 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8