Research output per year
Research output per year
PhD
One Gustave L. Levy Place
10029-6574 New York
United States
1 Gustave Levy Place, Box 1041
10029 New York, NY
United States
Research activity per year
ASSISTANT PROFESSOR | Institute for Genomic Health
ASSISTANT PROFESSOR | Genetics and Genomic Sciences
Dr. Chelsea Lowther is an Assistant Professor in the Institute for Genomic Health and the Department of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai. She completed her PhD at the University of Toronto and her Postdoctoral Research Fellowship in the Center for Genomic Medicine at Massachusetts General Hospital, the Department of Neurology at Harvard Medical School, and the Program in Medical and Population Genetics at the Broad Institute. Her research focuses on using state-of-the-art genomics technologies to elucidate the genetic architecture of human disease, with a particular focus on the contribution of structural variation (SV). She has made significant contributions to the field by mapping the mutational spectrum of SV across large population and disease cohorts, characterizing the variable expression and incomplete penetrance of disease-associated SVs, and identified some of the first genome-wide significant noncoding SVs associated with risk for developmental disorders.
Research output: Contribution to journal › Article › peer-review
Research output: Contribution to journal › Article › peer-review
Research output: Contribution to journal › Editorial
Research output: Contribution to journal › Article › peer-review
Research output: Contribution to journal › Article › peer-review