Photo of Ethylin Jabs

Ethylin Jabs

  • PROFESSOR Genetics and Genomic Sciences
  • PROFESSOR Developmental and Regenerative Biology
  • PROFESSOR Pediatrics
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  • Clinical Molecular Genetics

  • Clinical Genetics

  • Clinical Cytogenetics

Clinical Focus


  • MD, Johns Hopkins School of Medicine

  • Internship, Flexible Intern
    Cornell Medical Center

  • Residency, Pediatrics
    Johns Hopkins Hospital

  • Fellowship, Genetics
    Johns Hopkins School of Medicine


    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 Sinai Medical Center, New York City.  She was the Chief of the Division of Medical Genetics and Genomics from 2007-2012 and served as Director of the Medical Genetics Residency and Clinical Laboratory Fellowship Training Programs from 2007-2011.  Prior to November 1, 2007, her appointment was at Johns Hopkins University School of Medicine.  She was the Dr. Frank V. Sutland Professor of Pediatric Genetics, Director of the Center for Craniofacial Development and Disorders, and Director of the International Collaborative Genetics Research Training Program.  Her academic appointments were Professor of Pediatrics, Medicine, and Surgery since 1996.  She continues to have an adjunct Professor appointment at Johns Hopkins.

    She is a member of professional and honorary societies including Society for Pediatric Research, American Society for Clinical Investigation, American Society of Human Genetics, and American Cleft Palate-Craniofacial Association.  She served as President for the American Chinese Geneticist Association (1996-1997), President of the Society of Craniofacial Genetics (1996-1998), and Chair of the Professional Ethics Committee for the American Society of Human Genetics (2004-2006).  She is a member of The Smile Train Medical Advisory Board and the Moebius Syndrome Foundation Scientific Advisory Board.  She has been a research advisor to several institutes of the National Institutes of Health and a standing member of the Genome Study Section (1996-1999), Board of Scientific Counselors for the National Institute of Dental and Craniofacial Research (2000-2004), and Genetics of Health and Disease (2007-present). She was on the editorial board for the Pediatric Research, Journal of Craniofacial Genetics and Developmental Biology, and Genetics in Medicine and the book, Principles of Molecular Medicine.  She has authored more than 180 peer-reviewed publications and 50 chapters and reviews.

    She is a clinical geneticist and serves as an attending in medical genetics in the General Genetics Clinic and the Cleft and Craniofacial Clinic at the Mount Sinai Medical Center.


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. These studies are elucidating the pathogenetic mechanisms of these mutations, signaling pathways 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.


Justice CM, Yagnik G, Kim Y, Peter I, Jabs EW, Erazo M, Ye X, Ainehsazan E, Shi L, Cunningham ML, Kimonis V, Roscioli T, Wall SA, Wilkie AO, Stoler J, Richtsmeier JT, Heuzé Y, Sanchez-Lara PA, Buckley MF, Druschel CM, Mills JL, Caggana M, Romitti PA, Kay DM, Senders C, Taub PJ, Klein OD, Boggan J, Zwienenberg-Lee M, Naydenov C, Kim J, Wilson AF, Boyadjiev SA. A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9. Nature genetics 2012 Nov; 44(12).

Webb BD, Shaaban S, Gaspar H, Cunha LF, Schubert CR, Hao K, Robson CD, Chan WM, Andrews C, MacKinnon S, Oystreck DT, Hunter DG, Iacovelli AJ, Ye X, Camminady A, Engle EC, Jabs EW. HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice. American journal of human genetics 2012 Jul; 91(1).

Kim HG, Kim HT, Leach NT, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong IS, Shen Y, Talkowski ME, Ruderfer D, Lee JH, Glotzbach C, Ha K, Kjaergaard S, Levin AV, Romeike BF, Kleefstra T, Bartsch O, Elsea SH, Jabs EW, MacDonald ME, Harris DJ, Quade BJ, Ropers HH, Shaffer LG, Kutsche K, Layman LC, Tommerup N, Kalscheuer VM, Shi Y, Morton CC, Kim CH, Gusella JF. Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. American journal of human genetics 2012 Jul; 91(1).

Wang Y, Zhou X, Oberoi K, Phelps R, Couwenhoven R, Sun M, Rezza A, Holmes G, Percival CJ, Friedenthal J, Krejci P, Richtsmeier JT, Huso DL, Rendl M, Jabs EW. p38 Inhibition ameliorates skin and skull abnormalities in Fgfr2 Beare-Stevenson mice. Journal of Clinical Investigation 2012 Jun; 122(6): 2153-64.

Bernier FP, Caluseriu O, Ng S, Schwartzentruber J, Buckingham KJ, Innes AM, Jabs EW, Innis JW, Schuette JL, Gorski JL, Byers PH, Andelfinger G, Siu V, Lauzon J, Fernandez BA, McMillin M, Scott RH, Racher H, Majewski J, Nickerson DA, Shendure J, Bamshad MJ, Parboosingh JS. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. American Journal of Human Genetics 2012 May; 90(5): 925-33.

Beaty TH, Ruczinski I, Murray JC, Marazita ML, Munger RG, Hetmanski JB, Murray T, Redett RJ, Fallin MD, Liang KY, Wu T, Patel PJ, Jin SC, Zhang TX, Schwender H, Wu-Chou YH, Chen PK, Chong SS, Cheah F, Yeow V, Ye X, Wang H, Huang S, Jabs EW, Shi B, Wilcox AJ, Lie RT, Jee SH, Christensen K, Doheny KF, Pugh EW, Ling H, Scott AF. Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate. Genetic Epidemiology 2011 Sep; 35(6): 469-78.

Beaty T, Murray J, Marazita M, Munger R, Ruczinski I, Hetmanski J, Kiang K, Wu T, Murray T, Fallin M, Redett R, Raymon G, Schwender H, Jin S, Cooper M, Dunnwald M, Mansilla M, Leslie E, Bullard S, Lidral A, Moreno L, Menezes R, Vieira A, Petrin A, Wilcox A, Lie R, Jabs E, Wu-Chou Y, Chen P, Wang H, Ye X, Huang S, Yeow V, Chong S, Jee S, Shi B, Christensen K, Doheny K, Pugh E, Ling H, Castilla E, Czeizel A, Ma L, Field L, Brody L, Pangilinan F, Mills J, Molloy A, Kirke P, Scott J, Arcos-Burgos M, Scott A. A genome -wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. Nat Genetics 2010; 42(6): 525-529.

Ng S, Buckingham K, Lee C, Bingham A, Tabor H, Dent K, Huff C, Shannon P, Jabs E, Nickerson D, Shendure J, Bamshad M. Exome sequencing identifies the cause of a mendelian disorder. Nature Genetics 2010; 42(1): 30-35.

Yoon S, Qin J, Glaser R, Jabs E, Wexler N, Sokol R, Arnheim N, Calabrese P. The ups and downs of mutation frequencies during aging can account for the Apert syndrome paternal age effect. PLOS Genetics 2009; 5(7): e1000558.

Paznekas W, Karczeski B, Vermeer S, Lowry R, Delatycki M, Laurence F, Koivisto P, Van Maldergem L, Boyadjiev S, Bodurtha J, Jabs E. GJA1 mutations, variants, and connexin 43 dysfuntion as it relates to the oculodentodigital dysplasia phenotype. Hum Mutat 2009; 30(5): 724-733.

Gordillo M, Vega H, Trainer A, Hou F, Sakai N, Luque R, Kayserili H, Basaran S, Skovby F, Hennekam R, Uzielli M, Schnur R, Manouvrier S, Chang S, Blair E, Hurst J, Forzano F, Meins M, Simola K, Raas-Rothschild A, Schultz R, McDaniel L, Ozono K, Inui K, Zhou H, Jabs E. The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. Hum Mol Genet 2008; 17(14): 2172-2180.

Zhao X, Zhang X, Zhao J, Levya JA, Zhu H, Yang W, Zeng X, Ao Y, Liu Q, Liu G, Lo WH, Jabs EW, Amzel LM, Shan X, Sun M. Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. Am J Hum Genet 2007; 80(2): 361-371.

Wyrobek AJ, Eskenazi B, Young S, Arnheim N, Evenson D, Jabs EW, Glaser RL, Pearson FS, Tiemann-Boege I. Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, aneuploidies in sperm. Proc Natl Acad Sci, USA 2006; 103(25): 9601-9606.

Wang Y, Jabs EW, Yang F, Karim BO, Iacovelli AJ, Cai J, Lerner CP, Richtsmeier JT, Leszl JM, Hill CA, Yu K, Ornitiz DM, Elisseeff J, Huso DL, Xiao R. Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse. Development 2005; 132(15): 3537-3548.

Vega H, Waisfisz Q, Gordillo M, Sakai N, Yanagihara I, Yamada M, Joenje H, Kayserili H, Xu C, Ozono K, Jabs EW, Inui K, van Gosliga D. Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast EC01 that is essential for the establishment of sister chromatid cohesion. Nature Genetics 2005; 37(5): 468-470.

Cai J, Ash D, Kotch LE, Jabs EW, Attie-Bitach T, Auge J, Mattei G, Etchevers H, Vekemans M, Korshunova Y, Tidwell R, Messina DN, Winston JB, Lovett M. Gene expression in pharyngeal arch 1 during human embryonic development. Human Molecular Genetics 2005 Apr; 14(7): 903-12.

Fluck CE, Tajima T, Pandey AV, Arlt W, Miller WL, Verge CF, Jabs EW, Mendonca BB, Fujieda K, Okuhara K. Mutant P450 oxidoreductase causes disordered steroidgenesis with and without Antley-Bixler syndrome. Nature Genetics 2004; 36(3): 228-230.

Jabs EW, Glaser RL. Dear old dad. Sci Aging Knowledge Environ 2004; 2004(3): re1.

Paznekas WA, Boyadjiev SA, Shapiro RE, Daniels O, Wollnik B, Jabs EW, Innis JW, Dinulos MB, Christian C, Hannibal M, Keegan CE. Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet 2003; 72: 408-418.

Richard G, Rouan F, Willoughby C, Brown N, Chung P, Ryynanen M, Jabs E, Bale S, DiGiovanna J, Uitto J, Russel L. Missense mutation in GJB2 encoding connexin-26 cause the ectodermal dysplasia Keratitis-Ichthyosis-Deafness syndrome.. Am J Hum Genet 2002; 70(5): 1341-1348.

Jabs EW. A TWIST in the fate of human osteoblasts identifies signaling molecules involved in skull development. J Clin Invest 2001; 107(9): 1075-1077.

Isaac C, Marsh KL, Paznekas WA, Meier UT, Dixon MJ, Jabs EW, Dixon J. Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome. Mol Biol Cell 2000; 11: 3061-3071.

Industry Relationships

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 2014 and/or 2015. Please note that this information may differ from information posted on corporate sites due to timing or classification differences.

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

  • BioMarin Pharmaceutical Inc.

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

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