Heidi L. Rehm
Publications by Year
Research Areas
Genomics and Rare Diseases, Cancer Genomics and Diagnostics, Genomic variations and chromosomal abnormalities, Genetic Associations and Epidemiology, BRCA gene mutations in cancer
Most-Cited Works
- → Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology(2015)31,140 cited
- → ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing(2013)2,500 cited
- → ClinGen — The Clinical Genome Resource(2015)1,498 cited
- → Guidelines for investigating causality of sequence variants in human disease(2014)1,267 cited
- → ACMG clinical laboratory standards for next-generation sequencing(2013)914 cited
- → Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion(2018)844 cited
- → Genetic Misdiagnoses and the Potential for Health Disparities(2016)818 cited
- → TRPA1 is a candidate for the mechanosensitive transduction channel of vertebrate hair cells(2004)721 cited
- → A brief history of human disease genetics(2020)713 cited
- → Genomic data in the All of Us Research Program(2024)646 cited