Catherine Brownstein – ATP1A3 Symposium in Disease, Chicago 2018

Dr. Brownstein is an Instructor of Pediatrics at Harvard Medical School, a Research Associate in Genetics and Genomics at Boston Children’s Hospital, and the Manager of the Molecular Genomics Core Facility. Dr. Brownstein has worked to develop BCH’s research sequencing and pharmacogenomics programs for the past 4 years, and she has over 10 years of experience in genetics and toxicology, specializing in bone and endocrine disorders. Before joining BCH in 2011 Dr. Brownstein worked as a toxicologist for the Massachusetts Department of Public Health, and at various startups in Health 2.0.

Selected Publications

Brownstein CA, Towne MC, Luquette LJ, Harris DJ, Marinakis NS, et al. Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities – support for the role of K(ATP) channels in this condition. Eur J Med Genet. 2013 Dec;56(12):678-82. PMCID: PMC3902017

Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, et al. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol. 2014 Mar 25;15(3):R53. PMCID: PMC4073084

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