Sarah B. Pierce

Sarah B. Pierce studies the genetic basis of human disease, using DNA sequencing to identify mutations that cause rare inherited conditions such as developmental epileptic encephalopathy, Fanconi anemia, thrombocytopenia, ectodermal dysplasia, and spinocerebellar ataxia. Her work also extends to genetic factors influencing breast cancer risk and tumor-suppressor gene variation. This research combines molecular genetics, developmental biology, and case-based clinical genetics to link specific gene mutations to disease mechanisms.

Publication output has been modest and uneven over the last decade, with gaps in some years followed by small clusters of papers, and a slight increase in output around 2023-2024.

Generated by claude-sonnet-5 from public bibliographic data · Jul 20, 2026