Catherine A. Brownstein
Boston Children's Hospital(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Cancer Genomics and Diagnostics, Biomedical Text Mining and Ontologies
Most-Cited Works
- → Sharing Health Data for Better Outcomes on PatientsLikeMe(2010)633 cited
- → The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery(2015)482 cited
- → An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge(2014)432 cited
- → A translocation causing increased α-Klotho level results in hypophosphatemic rickets and hyperparathyroidism(2008)240 cited
- → Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy(2013)221 cited
- → Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy(2014)201 cited
- → The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease(2017)184 cited
- → Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy(2013)163 cited
- → The power of social networking in medicine(2009)149 cited
- → Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases(2021)141 cited