Ethylin Wang Jabs

Exome sequencing identifies the cause of a mendelian disorder

Sarah Ng, Kati J. Buckingham, Choli Lee et al. · Nature Genetics · 2009 · 1.9K citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +3

Human dopamine transporter gene (DAT1) maps to chromosome 5p15.3 and displays a VNTR

David J. Vandenbergh, Antonio M. Persico, Anita L. Hawkins et al. · Genomics · 1992 · 709 citations · Full text

Molecular Neuroscience, Genetic Disorder, Genetics +9

A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis

Ethylin Wang Jabs, Ulrich Müller, Xiang Li et al. · Cell · 1993 · 678 citations

Sclerostin, Developmental Biology, Genetic Disorder +6

Mutations in TWIST, a basic helix–loop–helix transcription factor, in Saethre-Chotzen syndrome

Timothy D. Howard, William A. Paznekas, Eric D. Green et al. · Nature Genetics · 1997 · 654 citations

Mendelian Disorder, Genetic Disorder, Genetics +4

Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia

William A. Paznekas, Simeon A. Boyadjiev, Robert E. Shapiro et al. · The American Journal of Human Genetics · 2003 · 625 citations · Full text

Developmental Biology, Mendelian Disorder, Mutations Cause +8