Hamosh assumed the position of scientific director of
Online Mendelian Inheritance in Man (
OMIM®). She served as co-chair of the phenotype review committee of the
Baylor-
Hopkins Centers for Mendelian Genomics (CMG), a
National Human Genome Research Institute-funded project to identify disease genes. She helped developed PhenoDB, a web-based phenotype and genotype platform that is freely available for clinical and research use, and associated tools including GeneMatcher and Matchmaker Exchange. Her tools have contributed to medical education and connected clinicians with basic scientists and
model organism experts, enabling them to study
variants of uncertain significance. Those collaborations have led to gene discovery and have facilitated understanding of rare diseases and phenotypes. Hamosh published dozens of papers on genetic disorders. She served on the
Human Variome Project, the ClinGen Project, the International Rare Disease Research Consortium, the Gene Curation Coalition, and the Global Alliance for Genomic Health. ==Awards==