ETHYLIN WANG JABS, M.D.
Medical Practice in New York, NY

Geneticist, Medical Biochemical Geneticist

1428 Madison Avenu, New York, NY 10029

English

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., Vekemans M, Korshunova Y, Tidwell R, Messina DN, Winston JB, Lovett M, Etchevers H, Ash D, Kotch LE, Jabs EW, Attie-Bitach T, Auge J, Mattei G, Cai J. Gene expression in pharyngeal arch 1 during human embryonic development. Hum Mol Genet 2005; 14(7): 903-912., 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., 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., 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., Park J, McIntosh I, Hetmanski J, Jabs E, Vander Kolk C, Wu-Chou Y, Chen P, Chong S, Yeow V, Jee S, Park B, Fallin M, Ingersoll R, Scott A, Beaty T. Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations. Genet Med 2007; 9(4): 219-227., Beaty TH, 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., Wang Y, Sun M, Uhlhorn V, Zhou X, Peter I, Martinez-Abadias N, Hill C, Percival C, Richtsmeier J, Huso D, Jabs E. Activation of p38 MAPK pathway in the askull abnormalities of Apert syndrome Fgfr2(+P253R) mice. BMC Dev Biol 2010; 10(1): 22., 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 EASCO2 acetyltransferase activity. Hum Mol Genet 2008; 17(14): 2172-2180., 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)., 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)., 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)., 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).

American Board of Pediatrics

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 Regenerativ...

Pediatrics, Clinical Cytogenetics, Clinical Genetics, Clinical Molecular Genetics

MOUNT SINAI SCHOOL OF MEDICINE
1428 Madison Ave SUITE 1, New York 10029
(212) 241-0544 (Phone), (212) 860-3316 (Fax)

Clinical Cytogenetics, 1984, Clinical Genetics, 1984, Clinical Molecular Genetics, 2004, Pediatrics, 2002

Healthgrades Honor Roll

English

Medical Genetics, Clinical Genetics, M.D., Clinical Cytogenetic, Clinical Molecular Genetics, Pediatrics

New York University - Mount Sinai
1 Gustave L Levy Pl, New York, NY 10029 Mt Sinai Hospital
1428 Madison Ave, New York, NY 10029

Johns Hopkins University (1977)