Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomics and Rare Diseases, Biomedical Text Mining and Ontologies, BRCA gene mutations in cancer, and Genomic variations and chromosomal abnormalities.
Mondo: integrating disease terminology across communities
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships—allelic requirement, inheritance modes, and disease mechanisms
The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources
Online Mendelian Inheritance in Man (<scp>OMIM</scp>®): Victor <scp>McKusick</scp>'s magnum opus
OMIM.org: leveraging knowledge across phenotype–gene relationships
Searching Online Mendelian Inheritance in Man (OMIM): A Knowledgebase of Human Genes and Genetic Phenotypes
OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders