[2] Hamosh assumed the position of scientific director of Online Mendelian Inheritance in Man (OMIM®).
[3][4][5] She served as co-chair of the phenotype review committee of the Baylor-Hopkins Centers for Mendelian Genomics (CMG),[6] a National Human Genome Research Institute-funded project to identify disease genes.
She helped developed PhenoDB,[7] a web-based phenotype and genotype platform that is freely available for clinical and research use,[8] and associated tools including GeneMatcher[9] and Matchmaker Exchange.
[10] Her tools have contributed to medical education[11][12] 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.