Dr. Ethylin Wang Jabs M.D.
Geneticist | Clinical Genetics (M.D.)
1 Gustave Levy P Lace Box 1497 New York NY, 10029About
Ethylin Wang Jabs is currently Vice Chair and Professor of the Department of Genetics and Genomic Sciences, Professor of Pediatrics, and Professor of Developmental and Regenerative Biology at Mount Si ...
Education and Training
Johns Hopkins University School of Medicine 1977
Board Certification
Medical GeneticsAmerican Board of Medical GeneticsABMG
DermatologyAmerican Board of DermatologyABD
Provider Details
Expert Publications
Data provided by the National Library of Medicine- A novel skeletal dysplasia with developmental delay and acanthosis nigricans is
- Chromosomal localization of tumor protein, translationally-controlled 1 (TPT1) encoding the human histamine releasing factor (HRF) to 13q12-->q14.
- Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation.
- Clinical spectrum of fibroblast growth factor receptor mutations.
- Genomic organization, expression, and chromosome location of the human SNAIL gene (SNAI1) and a related processed pseudogene (SNAI1P).
- Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of "complete ring" syndrome.
- Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.
- Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders.
- Cloning and chromosomal localization of the human BARX2 homeobox protein gene.
- Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome.
- Human PRRX1 and PRRX2 genes: cloning, expression, genomic localization, and exclusion as disease genes for Nager syndrome.
- Polymorphisms in the Human SNAIL (SNAI1) gene.
- A TWIST in the fate of human osteoblasts identifies signaling molecules involved
- Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene.
- Fibroblast growth factor receptor 2 (FGFR2): genomic sequence and variations.
Clinical Trials
Treatments
- Achondroplasia, Birth Defects, Clubfoot And More
Professional Memberships
- Member AMERICAN ACADEMY OF PEDIATRICS
- Member AMERICAN COLLEGE OF MEDICAL GENETICS
Dr. Ethylin Wang Jabs M.D.'s Practice location
Ethylin Jabs
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