Catherine A. Brownstein

Author

Also Known As

Brownstein, Catherine, Brownstein, Catherine A., C A Brownstein, C. A. Brownstein, C. Brownstein, C.A. Brownstein, Catherine A Brownstein, Catherine A. Brownstein, Catherine Brownstein, Catherine A. Brownstein

133

Publications

Citations

H-Index

104

Concepts

All Affiliations

Boston Children's Hospital Harvard University Dana-Farber/Boston Children's Cancer and Blood Disorders Center City University of Hong Kong Broad Institute

About

Catherine A. Brownstein is an author at Boston Children's Hospital specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	19	20	2.2K
2	Social Sciences	4	4	175
3	Engineering	3	3	405
4	Public Health	3	3	619
5	Health Sciences	1	1	239

Catherine A. Brownstein

Publications

4.4K

Citations

H-Index

Page 1

	Year	Citations
Sharing Health Data for Better Outcomes on PatientsLikeMe Paul Wicks, Michael P. Massagli, Jeana Frost, Journal of Medical Internet Research	2010	631
The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery Anthony Philippakis, Danielle R. Azzariti, Sergi Beltrán, Human Mutation GeneticsGenetic EpidemiologyDatabasesGenomicsBioinformatics Database	2015	468
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, Genome biology	2014	432
A translocation causing increased α-Klotho level results in hypophosphatemic rickets and hyperparathyroidism Catherine A. Brownstein, F.T. Adler, Carol Nelson‐Williams, Proceedings of the National Academy of Sciences Parathyroid DiseasePathologyα-Klotho Level ResultsParathyroid GlandOsteoporosis	2008	239
Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy Gianina Ravenscroft, Satoko Miyatake, Vilma‐Lotta Lehtokari, The American Journal of Human Genetics Mendelian DisorderGenetic DisorderGeneticsFrequent CausePathology	2013	220
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy Michaela Yuen, Sarah A. Sandaradura, James J. Dowling, Journal of Clinical Investigation MechanobiologyThin FilamentsSystems BiologyDevelopmental BiologyEngineering	2014	200
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease Rachel Ramoni, John J. Mulvihill, David R. Adams, The American Journal of Human Genetics Disease DiagnosisNetwork ScienceHealth InformaticsData ScienceData Mining	2017	181
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy Vandana Gupta, Gianina Ravenscroft, Ranad Shaheen, The American Journal of Human Genetics Molecular PhysiologySignal TransductionBtb-kelch-mediated UbiquitinationMolecular BiologyProtein Degradation	2013	162
Concordance between site of onset and limb dominance in amyotrophic lateral sclerosis Martin R. Turner, Paul Wicks, Catherine A. Brownstein, Journal of Neurology Neurosurgery & Psychiatry	2010	138
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases Francisco M. De La Vega, Shimul Chowdhury, Barry Moore, Genome Medicine	2021	135

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