Ethylin W Jabs, MD
img_Ethylin W Jabs
ADJUNCT PROFESSOR | Genetics and Genomic Sciences
Research Topics
Bone Biology, Brain Imaging, Cartilage Biology, Connexins, Cytogenetics, Developmental Biology, Embryology, Folates, Gene Discovery, Gene Expressions, Genetics, Genomics, Growth Factors and Receptors, Human Genetics and Genetic Disorders, Knockout Mice, Molecular Biology, Morphogenesis, Protein Kinases, Skeletal Biology, Transcription Factors, Transgenic Mice
Multi-Disciplinary Training Area
Development Regeneration and Stem Cells [DRS], Genetics and Genomic Sciences [GGS]
Birth defects occur in approximately five percent of newborns, and there are more than 700 inherited conditions with craniofacial and limb abnormalities. The research focus of Dr. Jabs' laboratory is to increase our understanding of the molecular basis of human malformation disorders including Crouzon, Apert, Treacher Collins, Moebius, Goldenhar, oculodentodigital, and Roberts syndromes. Mutations for syndromic craniosynostosis, cleft lip and palate, and mandibulofacial dysostosis conditions were identified in homeobox and helix-loop-helix transcription factors, growth factor receptors, connexins, and cohesion proteins. Current experimentation involves gene expression and protein interaction studies in animal model, biochemical, and cellular systems including induced pluripotent stem cells. These studies are elucidating the pathogenetic mechanisms of these mutations, signaling pathways and networks involved in normal and abnormal developmental processes, and phenotype-genotype correlations. Population association studies are being conducted on non-syndromic congenital anomalies such as isolated craniosynostosis and cleft lip with or without cleft palate. Based on these findings, therapeutic strategies are being tested in animal models to ameliorate abnormal craniofacial morphology. Her group is surveying the impact of these malformation conditions on the psychological well-being of the patients and their families.

She has also initiated a research program to evaluate genetics and genomics education for primary care physicians and the community served by Mount Sinai Center regarding the genetics of complex diseases, such as diabetes, coronary artery disease, cancer, and osteoporosis.

BA, Johns Hopkins University


Selected Publications

Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis. Alan P. Tenney, Silvio Alessandro Di Gioia, Bryn D. Webb, Wai Man Chan, Elke de Boer, Sarah J. Garnai, Brenda J. Barry, Tammy Ray, Michael Kosicki, Caroline D. Robson, Zhongyang Zhang, Thomas E. Collins, Alon Gelber, Brandon M. Pratt, Yuko Fujiwara, Arushi Varshney, Monkol Lek, Peter E. Warburton, Carol Van Ryzin, Tanya J. Lehky, Christopher Zalewski, Kelly A. King, Carmen C. Brewer, Audrey Thurm, Joseph Snow, Flavia M. Facio, Narisu Narisu, Lori L. Bonnycastle, Amy Swift, Peter S. Chines, Jessica L. Bell, Suresh Mohan, Mary C. Whitman, Sandra E. Staffieri, James E. Elder, Joseph L. Demer, Alcy Torres, Elza Rachid, Christiane Al-Haddad, Rose Mary Boustany, David A. Mackey, Angela F. Brady, María Fenollar-Cortés, Melanie Fradin, Tjitske Kleefstra, George W. Padberg, Salmo Raskin, Mario Teruo Sato, Stuart H. Orkin, Stephen C.J. Parker, Tessa A. Hadlock, Lisenka E.L.M. Vissers, Hans van Bokhoven, Ethylin Wang Jabs, Francis S. Collins, Len A. Pennacchio, Irini Manoli, Elizabeth C. Engle. Nature Genetics

Maternal periconceptional alcohol consumption and gastroschisis in the National Birth Defects Prevention Study, 1997–2011. Sarah C. Fisher, Meredith M. Howley, Paul A. Romitti, Tania A. Desrosiers, Ethylin Wang Jabs, Marilyn L. Browne. Paediatric and Perinatal Epidemiology

Attitudes on pharmacogenomic results as secondary findings among medical geneticists. Meghan N. Bartos, Stuart A. Scott, Ethylin Wang Jabs, Hetanshi Naik. Pharmacogenetics and Genomics

View All Publications

Faculty Spotlight: Ethylin Jabs

Physicians and scientists on the faculty of the Icahn School of Medicine at Mount Sinai often interact with pharmaceutical, device and biotechnology companies to improve patient care, develop new therapies and achieve scientific breakthroughs. In order to promote an ethical and transparent environment for conducting research, providing clinical care and teaching, Mount Sinai requires that salaried faculty inform the School of their relationships with such companies.

Below are financial relationships with industry reported by Dr. Jabs during 2022 and/or 2023. Please note that this information may differ from information posted on corporate sites due to timing or classification differences.


  • Broad Institute of MIT and Harvard

Other activities: Examples include, but are not limited to, committee participation, data safety monitoring board (DSMB) membership

  • QED - Biobridge
  • Johns Hopkins University
  • National Institutes of Health (NIH)
  • Born a Hero Research Foundation
  • Elsevier

Mount Sinai's faculty policies relating to faculty collaboration with industry are posted on our website. Patients may wish to ask their physician about the activities they perform for companies.