Ada Hamosh
Johns Hopkins University(US)Johns Hopkins Medicine(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Metabolism and Genetic Disorders, Cancer Genomics and Diagnostics, Cystic Fibrosis Research Advances
Most-Cited Works
- → Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders(2004)3,484 cited
- → Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies(2010)2,854 cited
- → OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders(2014)2,616 cited
- → Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene(1991)2,054 cited
- → GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene(2015)1,537 cited
- → Online Mendelian Inheritance In Man (OMIM)(2000)1,168 cited