Ada Hamosh

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

Ada Hamosh · Nucleic Acids Research · 2004 · 3.5K citations · Full text

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

Joanna Amberger, Carol Bocchini, François Schiettecatte et al. · Nucleic Acids Research · 2014 · 2.6K citations · Full text

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

Harry C. Dietz, Carry Cutting, Reed E. Pyeritz et al. · Nature · 1991 · 2K citations

Marfan Syndrome, Mendelian Disorder, Genetic Disorder +8

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

Nara Sobreira, François Schiettecatte, David Valle et al. · Human Mutation · 2015 · 1.5K citations · Full text

Genetics, Genetic Epidemiology, Genomics +21

Online Mendelian Inheritance In Man (OMIM)

Ada Hamosh, Alan L. Scott, Joanna Amberger et al. · Human Mutation · 2000 · 1.2K citations · Full text

Omim Entry, Genetics, Genetic Epidemiology +19