Keywords
Last Name
Institution

Ethylin Wang Jabs

TitlePROFESSOR
InstitutionMount Sinai
DepartmentGenetics and Genomic Sciences
Address1st Floor, Room AB1-12
New York NY 10029
Phone212-241-6947
    Other Positions
    TitlePROFESSOR
    InstitutionMount Sinai
    DepartmentPediatrics

    TitlePROFESSOR
    InstitutionMount Sinai
    DepartmentDevelopmental and Regenerative Biology


     Bibliographic 
     selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Sanderson SC, Diefenbach MA, Zinberg R, Horowitz CR, Smirnoff M, Zweig M, Streicher S, Jabs EW, Richardson LD. Willingness to participate in genomics research and desire for personal results among underrepresented minority patients: a structured interview study. J Community Genet. 2013 Oct; 4(4):469-82.
      View in: PubMed
    2. Yeh E, Fanganiello RD, Sunaga DY, Zhou X, Holmes G, Rocha KM, Alonso N, Matushita H, Wang Y, Jabs EW, Passos-Bueno MR. Novel molecular pathways elicited by mutant FGFR2 may account for brain abnormalities in Apert syndrome. PLoS One. 2013; 8(4):e60439.
      View in: PubMed
    3. Hill CA, Martínez-Abadías N, Motch SM, Austin JR, Wang Y, Jabs EW, Richtsmeier JT, Aldridge K. Postnatal brain and skull growth in an Apert syndrome mouse model. Am J Med Genet A. 2013 Apr; 161A(4):745-57.
      View in: PubMed
    4. Martínez-Abadías N, Holmes G, Pankratz T, Wang Y, Zhou X, Jabs EW, Richtsmeier JT. From shape to cells: mouse models reveal mechanisms altering palate development in Apert syndrome. Dis Model Mech. 2013 May; 6(3):768-79.
      View in: PubMed
    5. Chew S, Balasubramanian R, Chan WM, Kang PB, Andrews C, Webb BD, MacKinnon SE, Oystreck DT, Rankin J, Crawford TO, Geraghty M, Pomeroy SL, Crowley WF, Jabs EW, Hunter DG, Grant PE, Engle EC. A novel syndrome caused by the E410K amino acid substitution in the neuronal ß-tubulin isotype 3. Brain. 2013 Feb; 136(Pt 2):522-35.
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    6. Sanderson SC, Diefenbach MA, Streicher SA, Jabs EW, Smirnoff M, Horowitz CR, Zinberg R, Clesca C, Richardson LD. Genetic and lifestyle causal beliefs about obesity and associated diseases among ethnically diverse patients: a structured interview study. Public Health Genomics. 2013; 16(3):83-93.
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    7. Martínez-Abadías N, Motch SM, Pankratz TL, Wang Y, Aldridge K, Jabs EW, Richtsmeier JT. Tissue-specific responses to aberrant FGF signaling in complex head phenotypes. Dev Dyn. 2013 Jan; 242(1):80-94.
      View in: PubMed
    8. 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. Nat Genet. 2012 Dec; 44(12):1360-4.
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    9. Percival CJ, Wang Y, Zhou X, Jabs EW, Richtsmeier JT. The effect of a Beare-Stevenson syndrome Fgfr2 Y394C mutation on early craniofacial bone volume and relative bone mineral density in mice. J Anat. 2012 Nov; 221(5):434-42.
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    10. 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. Am J Hum Genet. 2012 Jul 13; 91(1):171-9.
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    11. 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. Am J Hum Genet. 2012 Jul 13; 91(1):56-72.
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    12. Wu RL, Lawson CS, Jabs EW, Sanderson SC. Attitudes toward prenatal genetic testing for Treacher Collins syndrome among affected individuals and families. Am J Med Genet A. 2012 Jul; 158A(7):1556-67.
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    13. 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. J Clin Invest. 2012 Jun 1; 122(6):2153-64.
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    14. Chassaing N, Sorrentino S, Davis EE, Martin-Coignard D, Iacovelli A, Paznekas W, Webb BD, Faye-Petersen O, Encha-Razavi F, Lequeux L, Vigouroux A, Yesilyurt A, Boyadjiev SA, Kayserili H, Loget P, Carles D, Sergi C, Puvabanditsin S, Chen CP, Etchevers HC, Katsanis N, Mercer CL, Calvas P, Jabs EW. OTX2 mutations contribute to the otocephaly-dysgnathia complex. J Med Genet. 2012 Jun; 49(6):373-9.
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    15. Krejci P, Aklian A, Kaucka M, Sevcikova E, Prochazkova J, Masek JK, Mikolka P, Pospisilova T, Spoustova T, Weis M, Paznekas WA, Wolf JH, Gutkind JS, Wilcox WR, Kozubik A, Jabs EW, Bryja V, Salazar L, Vesela I, Balek L. Receptor tyrosine kinases activate canonical WNT/ß-catenin signaling via MAP kinase/LRP6 pathway and direct ß-catenin phosphorylation. PLoS One. 2012; 7(4):e35826.
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    16. 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. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet. 2012 May 4; 90(5):925-33.
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    17. Chen Q, Wang H, Hetmanski JB, Zhang T, Ruczinski I, Schwender H, Liang KY, Fallin MD, Redett RJ, Raymond GV, Wu Chou YH, Chen PK, Yeow V, Chong SS, Cheah FS, Jabs EW, Scott AF, Beaty TH. BMP4 was associated with NSCL/P in an Asian population. PLoS One. 2012; 7(4):e35347.
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    18. Shi M, Murray JC, Marazita ML, Munger RG, Ruczinski I, Hetmanski JB, Wu T, Murray T, Redett RJ, Wilcox AJ, Lie RT, Jabs EW, Wu-Chou YH, Chen PK, Wang H, Ye X, Yeow V, Chong SS, Shi B, Christensen K, Scott AF, Patel P, Cheah F, Beaty TH. Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts. Am J Med Genet A. 2012 Apr; 158A(4):784-94.
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    19. Wang H, Hetmanski JB, Ruczinski I, Liang KY, Fallin MD, Redett RJ, Raymond GV, Chou YH, Chen PK, Yeow V, Chong SS, Cheah FSh, Jabs EW, Scott AF, Beaty TH. ROR2 gene is associated with risk of non-syndromic cleft palate in an Asian population. Chin Med J (Engl). 2012 Feb; 125(3):476-80.
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    20. Wu T, Fallin MD, Shi M, Ruczinski I, Liang KY, Hetmanski JB, Wang H, Ingersoll RG, Huang S, Ye X, Wu-Chou YH, Chen PK, Jabs EW, Shi B, Redett R, Scott AF, Murray JC, Marazita ML, Munger RG, Beaty TH. Evidence of gene-environment interaction for the RUNX2 gene and environmental tobacco smoke in controlling the risk of cleft lip with/without cleft palate. Birth Defects Res A Clin Mol Teratol. 2012 Feb; 94(2):76-83.
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    21. Wang H, Zhang T, Wu T, Hetmanski JB, Ruczinski I, Schwender H, Liang KY, Murray T, Fallin MD, Redett RJ, Raymond GV, Jin SC, Chou YH, Chen PK, Yeow V, Chong SS, Cheah FS, Jee SH, Jabs EW, Scott AF, Beaty TH. The FGF and FGFR Gene Family and Risk of Cleft Lip With or Without Cleft Palate. Cleft Palate Craniofac J. 2013 Jan; 50(1):96-103.
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    22. Rhodes R, Azzouni J, Baumrin SB, Benkov K, Blaser MJ, Brenner B, Dauben JW, Earle WJ, Frank L, Gligorov N, Goldfarb J, Hirschhorn K, Hirschhorn R, Holzman I, Indyk D, Jabs EW, Lackey DP, Moros DA, Philpott S, Rhodes ME, Richardson LD, Sacks HS, Schwab A, Sperling R, Trusko B, Zweig A. De minimis risk: a proposal for a new category of research risk. Am J Bioeth. 2011 Nov; 11(11):1-7.
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    23. Martínez-Abadías N, Heuzé Y, Wang Y, Jabs EW, Aldridge K, Richtsmeier JT. FGF/FGFR signaling coordinates skull development by modulating magnitude of morphological integration: evidence from Apert syndrome mouse models. PLoS One. 2011; 6(10):e26425.
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    24. Streicher SA, Sanderson SC, Jabs EW, Diefenbach M, Smirnoff M, Peter I, Horowitz CR, Brenner B, Richardson LD. Reasons for participating and genetic information needs among racially and ethnically diverse biobank participants: a focus group study. J Community Genet. 2011 Sep; 2(3):153-63.
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    25. Richardson S, Browne ML, Rasmussen SA, Druschel CM, Sun L, Jabs EW, Romitti PA. Associations between periconceptional alcohol consumption and craniosynostosis, omphalocele, and gastroschisis. Birth Defects Res A Clin Mol Teratol. 2011 Jul; 91(7):623-30.
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    26. 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. Genet Epidemiol. 2011 Sep; 35(6):469-78.
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    27. Melville H, Wang Y, Taub PJ, Jabs EW. Genetic basis of potential therapeutic strategies for craniosynostosis. Am J Med Genet A. 2010 Dec; 152A(12):3007-15.
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    28. Martínez-Abadías N, Percival C, Aldridge K, Hill CA, Ryan T, Sirivunnabood S, Wang Y, Jabs EW, Richtsmeier JT. Beyond the closed suture in apert syndrome mouse models: evidence of primary effects of FGFR2 signaling on facial shape at birth. Dev Dyn. 2010 Nov; 239(11):3058-71.
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    29. Wu T, Liang KY, Hetmanski JB, Ruczinski I, Fallin MD, Ingersoll RG, Wang H, Huang S, Ye X, Wu-Chou YH, Chen PK, Jabs EW, Shi B, Redett R, Scott AF, Beaty TH. Evidence of gene-environment interaction for the IRF6 gene and maternal multivitamin supplementation in controlling the risk of cleft lip with/without cleft palate. Hum Genet. 2010 Oct; 128(4):401-10.
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    30. Beaty TH, Murray JC, Marazita ML, Munger RG, Ruczinski I, Hetmanski JB, Liang KY, Wu T, Murray T, Fallin MD, Redett RA, Raymond G, Schwender H, Jin SC, Cooper ME, Dunnwald M, Mansilla MA, Leslie E, Bullard S, Lidral AC, Moreno LM, Menezes R, Vieira AR, Petrin A, Wilcox AJ, Lie RT, Jabs EW, Wu-Chou YH, Chen PK, Wang H, Ye X, Huang S, Yeow V, Chong SS, Jee SH, Shi B, Christensen K, Melbye M, Doheny KF, Pugh EW, Ling H, Castilla EE, Czeizel AE, Ma L, Field LL, Brody L, Pangilinan F, Mills JL, Molloy AM, Kirke PN, Scott JM, Scott JM, Arcos-Burgos M, Scott AF. A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. Nat Genet. 2010 Jun; 42(6):525-9.
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    31. Cheah FS, Winkler C, Jabs EW, Chong SS. Tgfbeta3 regulation of chondrogenesis and osteogenesis in zebrafish is mediated through formation and survival of a subpopulation of the cranial neural crest. Mech Dev. 2010 Jul-Aug; 127(7-8):329-44.
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    32. Aldridge K, Hill CA, Austin JR, Percival C, Martinez-Abadias N, Neuberger T, Wang Y, Jabs EW, Richtsmeier JT. Brain phenotypes in two FGFR2 mouse models for Apert syndrome. Dev Dyn. 2010 Mar; 239(3):987-97.
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    33. Wang Y, Sun M, Uhlhorn VL, Zhou X, Peter I, Martinez-Abadias N, Hill CA, Percival CJ, Richtsmeier JT, Huso DL, Jabs EW. Activation of p38 MAPK pathway in the skull abnormalities of Apert syndrome Fgfr2(+P253R) mice. BMC Dev Biol. 2010; 10:22.
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    34. Ingersoll RG, Hetmanski J, Park JW, Fallin MD, McIntosh I, Wu-Chou YH, Chen PK, Yeow V, Chong SS, Cheah F, Sull JW, Jee SH, Wang H, Wu T, Murray T, Huang S, Ye X, Jabs EW, Redett R, Raymond G, Scott AF, Beaty TH. Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations. Eur J Hum Genet. 2010 Jun; 18(6):726-32.
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    35. Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet. 2010 Jan; 42(1):30-5.
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    36. Chtchetinin J, Gifford WD, Li S, Paznekas WA, Jabs EW, Lai A. Tyrosine-dependent basolateral targeting of human connexin43-eYFP in Madin-Darby canine kidney cells can be disrupted by the oculodentodigital dysplasia mutation L90V. FEBS J. 2009 Dec; 276(23):6992-7005.
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    37. Marcus CL, Smith RJ, Mankarious LA, Arens R, Mitchell GS, Elluru RG, Forte V, Goudy S, Jabs EW, Kane AA, Katz E, Paydarfar D, Pereira K, Reeves RH, Richtsmeier JT, Ruiz RL, Thach BT, Tunkel DE, Whitsett JA, Wootton D, Blaisdell CJ. Developmental aspects of the upper airway: report from an NHLBI Workshop, March 5-6, 2009. Proc Am Thorac Soc. 2009 Sep 15; 6(6):513-20.
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    38. Yoon SR, Qin J, Glaser RL, Jabs EW, Wexler NS, 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 Genet. 2009 Jul; 5(7):e1000558.
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    39. Vega H, Trainer AH, Gordillo M, Crosier M, Kayserili H, Skovby F, Uzielli ML, Schnur RE, Manouvrier S, Blair E, Hurst JA, Forzano F, Meins M, Simola KO, Raas-Rothschild A, Hennekam RC, Jabs EW. Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome. J Med Genet. 2010 Jan; 47(1):30-7.
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    40. Yeo GH, Cheah FS, Winkler C, Jabs EW, Venkatesh B, Chong SS. Phylogenetic and evolutionary relationships and developmental expression patterns of the zebrafish twist gene family. Dev Genes Evol. 2009 Jun; 219(6):289-300.
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    41. Sull JW, Liang KY, Hetmanski JB, Wu T, Fallin MD, Ingersoll RG, Park JW, Wu-Chou YH, Chen PK, Chong SS, Cheah F, Yeow V, Park BY, Jee SH, Jabs EW, Redett R, Scott AF, Beaty TH. Evidence that TGFA influences risk to cleft lip with/without cleft palate through unconventional genetic mechanisms. Hum Genet. 2009 Sep; 126(3):385-94.
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    42. Paznekas WA, Karczeski B, Vermeer S, Lowry RB, Delatycki M, Laurence F, Koivisto PA, Van Maldergem L, Boyadjiev SA, Bodurtha JN, Jabs EW. GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. Hum Mutat. 2009 May; 30(5):724-33.
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    43. Sull JW, Liang KY, Hetmanski JB, Fallin MD, Ingersoll RG, Park J, Wu-Chou YH, Chen PK, Chong SS, Cheah F, Yeow V, Park BY, Jee SH, Jabs EW, Redett R, Scott AF, Beaty TH. Maternal transmission effects of the PAX genes among cleft case-parent trios from four populations. Eur J Hum Genet. 2009 Jun; 17(6):831-9.
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    44. Sull JW, Liang KY, Hetmanski JB, Fallin MD, Ingersoll RG, Park JW, Wu-Chou YH, Chen PK, Chong SS, Cheah F, Yeow V, Park BY, Jee SH, Jabs EW, Redett R, Scott AF, Beaty TH. Excess maternal transmission of markers in TCOF1 among cleft palate case-parent trios from three populations. Am J Med Genet A. 2008 Sep 15; 146A(18):2327-31.
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    45. Sull JW, Liang KY, Hetmanski JB, Fallin MD, Ingersoll RG, Park J, Wu-Chou YH, Chen PK, Chong SS, Cheah F, Yeow V, Park BY, Jee SH, Jabs EW, Redett R, Jung E, Ruczinski I, Scott AF, Beaty TH. Differential parental transmission of markers in RUNX2 among cleft case-parent trios from four populations. Genet Epidemiol. 2008 Sep; 32(6):505-12.
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    46. Gordillo M, Vega H, Trainer AH, Hou F, Sakai N, Luque R, Kayserili H, Basaran S, Skovby F, Hennekam RC, Uzielli ML, Schnur RE, Manouvrier S, Chang S, Blair E, Hurst JA, Forzano F, Meins M, Simola KO, Raas-Rothschild A, Schultz RA, McDaniel LD, Ozono K, Inui K, Zou H, Jabs EW. The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. Hum Mol Genet. 2008 Jul 15; 17(14):2172-80.
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    47. Yang F, Wang Y, Zhang Z, Hsu B, Jabs EW, Elisseeff JH. The study of abnormal bone development in the Apert syndrome Fgfr2+/S252W mouse using a 3D hydrogel culture model. Bone. 2008 Jul; 43(1):55-63.
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    48. Yeo GH, Cheah FS, Jabs EW, Chong SS. Zebrafish twist1 is expressed in craniofacial, vertebral, and renal precursors. Dev Genes Evol. 2007 Dec; 217(11-12):783-9.
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    49. Park JW, McIntosh I, Hetmanski JB, Jabs EW, Vander Kolk CA, Wu-Chou YH, Chen PK, Chong SS, Yeow V, Jee SH, Park BY, Fallin MD, Ingersoll R, Scott AF, Beaty TH. Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations. Genet Med. 2007 Apr; 9(4):219-27.
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    50. Zhao X, Sun M, Zhao J, Leyva JA, Zhu H, Yang W, Zeng X, Ao Y, Liu Q, Liu G, Lo WH, Jabs EW, Amzel LM, Shan X, Zhang X. Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. Am J Hum Genet. 2007 Feb; 80(2):361-71.
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    51. Beaty TH, Hetmanski JB, Fallin MD, Park JW, Sull JW, McIntosh I, Liang KY, Vanderkolk CA, Redett RJ, Boyadjiev SA, Jabs EW, Chong SS, Cheah FS, Wu-Chou YH, Chen PK, Chiu YF, Yeow V, Ng IS, Cheng J, Huang S, Ye X, Wang H, Ingersoll R, Scott AF. Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations. Hum Genet. 2006 Nov; 120(4):501-18.
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    52. Griffith AJ, Yang Y, Pryor SP, Park HJ, Jabs EW, Nadol JB, Russell LJ, Wasserman DI, Richard G, Adams JC, Merchant SN. Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome. Laryngoscope. 2006 Aug; 116(8):1404-8.
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    53. Wyrobek AJ, Eskenazi B, Young S, Arnheim N, Tiemann-Boege I, Jabs EW, Glaser RL, Pearson FS, Evenson D. Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in sperm. Proc Natl Acad Sci U S A. 2006 Jun 20; 103(25):9601-6.
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    54. Jehee FS, Alonso LG, Cavalcanti DP, Kim C, Wall SA, Mulliken JB, Sun M, Jabs EW, Boyadjiev SA, Wilkie AO, Passos-Bueno MR. Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients. Cleft Palate Craniofac J. 2006 Mar; 43(2):148-51.
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    55. Lai A, Le DN, Paznekas WA, Gifford WD, Jabs EW, Charles AC. Oculodentodigital dysplasia connexin43 mutations result in non-functional connexin hemichannels and gap junctions in C6 glioma cells. J Cell Sci. 2006 Feb 1; 119(Pt 3):532-41.
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    56. Park JW, Cai J, McIntosh I, Jabs EW, Fallin MD, Ingersoll R, Hetmanski JB, Vekemans M, Attie-Bitach T, Lovett M, Scott AF, Beaty TH. High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts. J Med Genet. 2006 Jul; 43(7):598-608.
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    57. Ye X, Song G, Fan M, Shi L, Jabs EW, Huang S, Guo R, Bian Z. A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis. Hum Genet. 2006 Mar; 119(1-2):199-205.
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    58. Cai J, Jabs EW. A twisted hand: bHLH protein phosphorylation and dimerization regulate limb development. Bioessays. 2005 Nov; 27(11):1102-6.
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    59. Wang Y, Xiao R, Yang F, Karim BO, Iacovelli AJ, Cai J, Lerner CP, Richtsmeier JT, Leszl JM, Hill CA, Yu K, Ornitz DM, Elisseeff J, Huso DL, Jabs EW. Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse. Development. 2005 Aug; 132(15):3537-48.
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    60. Van Maldergem L, Siitonen HA, Jalkh N, Chouery E, De Roy M, Delague V, Muenke M, Jabs EW, Cai J, Wang LL, Plon SE, Fourneau C, Kestilä M, Gillerot Y, Mégarbané A, Verloes A. Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. J Med Genet. 2006 Feb; 43(2):148-52.
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    61. Jehee FS, Johnson D, Alonso LG, Cavalcanti DP, de Sá Moreira E, Alberto FL, Kok F, Kim C, Wall SA, Jabs EW, Boyadjiev SA, Wilkie AO, Passos-Bueno MR. Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly. Clin Genet. 2005 Jun; 67(6):503-10.
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    62. Shibayama J, Paznekas W, Seki A, Taffet S, Jabs EW, Delmar M, Musa H. Functional characterization of connexin43 mutations found in patients with oculodentodigital dysplasia. Circ Res. 2005 May 27; 96(10):e83-91.
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    63. Ben J, Jabs EW, Chong SS. Genomic, cDNA and embryonic expression analysis of zebrafish IRF6, the gene mutated in the human oral clefting disorders Van der Woude and popliteal pterygium syndromes. Gene Expr Patterns. 2005 Jun; 5(5):629-38.
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    64. Frebourg T, Oliveira C, Hochain P, Karam R, Manouvrier S, Graziadio C, Vekemans M, Hartmann A, Baert-Desurmont S, Alexandre C, Lejeune Dumoulin S, Marroni C, Martin C, Castedo S, Lovett M, Winston J, Machado JC, Attié T, Jabs EW, Cai J, Pellerin P, Triboulet JP, Scotte M, Le Pessot F, Hedouin A, Carneiro F, Blayau M, Seruca R. Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer. J Med Genet. 2006 Feb; 43(2):138-42.
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    65. Vega H, Waisfisz Q, Gordillo M, Sakai N, Yanagihara I, Yamada M, van Gosliga D, Kayserili H, Xu C, Ozono K, Jabs EW, Inui K, Joenje H. Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion. Nat Genet. 2005 May; 37(5):468-70.
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    66. Cheah FS, Jabs EW, Chong SS. Genomic, cDNA, and embryonic expression analysis of zebrafish transforming growth factor beta 3 (tgfbeta3). Dev Dyn. 2005 Apr; 232(4):1021-30.
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    67. Huang N, Pandey AV, Agrawal V, Reardon W, Lapunzina PD, Mowat D, Jabs EW, Van Vliet G, Sack J, Flück CE, Miller WL. Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. Am J Hum Genet. 2005 May; 76(5):729-49.
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    68. 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. Hum Mol Genet. 2005 Apr 1; 14(7):903-12.
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    69. Kates WR, Burnette CP, Bessette BA, Folley BS, Strunge L, Jabs EW, Pearlson GD. Frontal and caudate alterations in velocardiofacial syndrome (deletion at chromosome 22q11.2). J Child Neurol. 2004 May; 19(5):337-42.
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    70. Shoo BA, McPherson E, Jabs EW. Mosaicism of a TCOF1 mutation in an individual clinically unaffected with Treacher Collins syndrome. Am J Med Genet A. 2004 Apr 1; 126A(1):84-8.
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    71. Flück CE, Tajima T, Pandey AV, Arlt W, Okuhara K, Verge CF, Jabs EW, Mendonça BB, Fujieda K, Miller WL. Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet. 2004 Mar; 36(3):228-30.
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    72. Glaser RL, Jabs EW. Dear old dad. Sci Aging Knowledge Environ. 2004 Jan 21; 2004(3):re1.
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    73. Cai J, Goodman BK, Patel AS, Mulliken JB, Van Maldergem L, Hoganson GE, Paznekas WA, Ben-Neriah Z, Sheffer R, Cunningham ML, Daentl DL, Jabs EW. Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening. Hum Genet. 2003 Dec; 114(1):68-76.
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    74. Splendore A, Jabs EW, Félix TM, Passos-Bueno MR. Parental origin of mutations in sporadic cases of Treacher Collins syndrome. Eur J Hum Genet. 2003 Sep; 11(9):718-22.
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    75. Glaser RL, Broman KW, Schulman RL, Eskenazi B, Wyrobek AJ, Jabs EW. The paternal-age effect in Apert syndrome is due, in part, to the increased frequency of mutations in sperm. Am J Hum Genet. 2003 Oct; 73(4):939-47.
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    76. Cai J, Shoo BA, Sorauf T, Jabs EW. A novel mutation in the TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome. Clin Genet. 2003 Jul; 64(1):79-82.
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    77. Boyadjiev SA, Justice CM, Eyaid W, McKusick VA, Lachman RS, Chowdry AB, Jabak M, Zwaan J, Wilson AF, Jabs EW. A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21. Hum Genet. 2003 Jul; 113(1):1-9.
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    78. Hoover-Fong JE, Cai J, Cargile CB, Thomas GH, Patel A, Griffin CA, Jabs EW, Hamosh A. Facial dysgenesis: a novel facial syndrome with chromosome 7 deletion p15.1-21.1. Am J Med Genet A. 2003 Feb 15; 117A(1):47-56.
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    79. Paznekas WA, Boyadjiev SA, Shapiro RE, Daniels O, Wollnik B, Keegan CE, Innis JW, Dinulos MB, Christian C, Hannibal MC, Jabs EW. Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet. 2003 Feb; 72(2):408-18.
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    80. Cai J, Ash D, Jabs EW. SAGE analysis from 1 microg of total RNA. Curr Protoc Cell Biol. 2002 Nov; Chapter 19:Unit 19.4.
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    81. Zeiger JS, Beaty TH, Hetmanski JB, Wang H, Scott AF, Kasch L, Raymond G, Jabs EW, VanderKolk C. Genetic and environmental risk factors for sagittal craniosynostosis. J Craniofac Surg. 2002 Sep; 13(5):602-6.
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    82. Splendore A, Passos-Bueno MR, Jabs EW, Van Maldergem L, Wulfsberg EA. TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders. Am J Med Genet. 2002 Aug 15; 111(3):324-7.
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    83. Splendore A, Jabs EW, Passos-Bueno MR. Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle. J Med Genet. 2002 Jul; 39(7):493-5.
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    84. Kelley RI, Kratz LE, Glaser RL, Netzloff ML, Wolf LM, Jabs EW. Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia. Am J Med Genet. 2002 Jun 15; 110(2):95-102.
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    85. Richard G, Rouan F, Willoughby CE, Brown N, Chung P, Ryynänen M, Jabs EW, Bale SJ, DiGiovanna JJ, Uitto J, Russell L. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. Am J Hum Genet. 2002 May; 70(5):1341-8.
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    86. Boyadjiev SA, Chowdry AB, Shapiro RE, Paznekas WA, Wandstrat AE, Choi JW, Kasch L, Zhang G, Wollnik B, Burgess CE, Schalling M, Lovett M, Jabs EW. Physical map of the chromosome 6q22 region containing the oculodentodigital dysplasia locus: analysis of thirteen candidate genes and identification of novel ESTs and DNA polymorphisms. Cytogenet Genome Res. 2002; 98(1):29-37.
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    87. Lowry RB, Jabs EW, Graham GE, Gerritsen J, Fleming J. Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene. Am J Med Genet. 2001 Nov 22; 104(2):112-9.
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    88. De Baere E, Dixon MJ, Small KW, Jabs EW, Leroy BP, Devriendt K, Gillerot Y, Mortier G, Meire F, Van Maldergem L, Courtens W, Hjalgrim H, Huang S, Liebaers I, Van Regemorter N, Touraine P, Praphanphoj V, Verloes A, Udar N, Yellore V, Chalukya M, Yelchits S, De Paepe A, Kuttenn F, Fellous M, Veitia R, Messiaen L. Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation. Hum Mol Genet. 2001 Jul 15; 10(15):1591-600.
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    89. Jabs EW. A TWIST in the fate of human osteoblasts identifies signaling molecules involved in skull development. J Clin Invest. 2001 May; 107(9):1075-7.
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    90. Kates WR, Burnette CP, Jabs EW, Rutberg J, Murphy AM, Grados M, Geraghty M, Kaufmann WE, Pearlson GD. Regional cortical white matter reductions in velocardiofacial syndrome: a volumetric MRI analysis. Biol Psychiatry. 2001 Apr 15; 49(8):677-84.
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    91. Okajima K, Paznekas WA, Burstyn T, Jabs EW. Polymorphisms in the Human SNAIL (SNAI1) gene. Mol Cell Probes. 2001 Feb; 15(1):53-5.
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    92. Ingersoll RG, Paznekas WA, Tran AK, Scott AF, Jiang G, Jabs EW. Fibroblast growth factor receptor 2 (FGFR2): genomic sequence and variations. Cytogenet Cell Genet. 2001; 94(3-4):121-6.
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    93. Schweitzer DN, Graham JM, Lachman RS, Jabs EW, Okajima K, Przylepa KA, Shanske A, Chen K, Neidich JA, Wilcox WR. Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3. Am J Med Genet. 2001 Jan 1; 98(1):75-91.
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    94. Norris RA, Scott KK, Moore CS, Stetten G, Brown CR, Jabs EW, Wulfsberg EA, Yu J, Kern MJ. Human PRRX1 and PRRX2 genes: cloning, expression, genomic localization, and exclusion as disease genes for Nager syndrome. Mamm Genome. 2000 Nov; 11(11):1000-5.
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    95. Isaac C, Marsh KL, Paznekas WA, Dixon J, Dixon MJ, Jabs EW, Meier UT. Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome. Mol Biol Cell. 2000 Sep; 11(9):3061-71.
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    96. Krasner A, Wallace L, Thiagalingam A, Jones C, Lengauer C, Minahan L, Ma Y, Kalikin L, Feinberg AP, Jabs EW, Tunnacliffe A, Baylin SB, Ball DW, Nelkin BD. Cloning and chromosomal localization of the human BARX2 homeobox protein gene. Gene. 2000 May 30; 250(1-2):171-80.
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    97. Boyadjiev SA, Jabs EW. Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders. Clin Genet. 2000 Apr; 57(4):253-66.
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    98. Glaser RL, Jiang W, Boyadjiev SA, Tran AK, Zachary AA, Van Maldergem L, Johnson D, Walsh S, Oldridge M, Wall SA, Wilkie AO, Jabs EW. Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. Am J Hum Genet. 2000 Mar; 66(3):768-77.
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    99. Boultwood J, Strickson AJ, Jabs EW, Cheng JF, Fidler C, Wainscoat JS. Physical mapping of the human ATX1 homologue (HAH1) to the critical region of the 5q- syndrome within 5q32, and immediately adjacent to the SPARC gene. Hum Genet. 2000 Jan; 106(1):127-9.
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    100. Sigurdardottir S, Goodman BK, Rutberg J, Thomas GH, Jabs EW, Geraghty MT. Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of "complete ring" syndrome. Am J Med Genet. 1999 Dec 22; 87(5):384-90.
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    101. Ferreira JC, Carter SM, Bernstein PS, Jabs EW, Glickstein JS, Marion RW, Baergen RN, Gross SJ. Second-trimester molecular prenatal diagnosis of sporadic Apert syndrome following suspicious ultrasound findings. Ultrasound Obstet Gynecol. 1999 Dec; 14(6):426-30.
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    102. Paznekas WA, Okajima K, Schertzer M, Wood S, Jabs EW. Genomic organization, expression, and chromosome location of the human SNAIL gene (SNAI1) and a related processed pseudogene (SNAI1P). Genomics. 1999 Nov 15; 62(1):42-9.
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    103. Okajima K, Robinson LK, Hart MA, Abuelo DN, Cowan LS, Hasegawa T, Maumenee IH, Jabs EW. Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation. Am J Med Genet. 1999 Jul 16; 85(2):160-70.
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    104. Bellus GA, Bamshad MJ, Przylepa KA, Dorst J, Lee RR, Hurko O, Jabs EW, Curry CJ, Wilcox WR, Lachman RS, Rimoin DL, Francomano CA. Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3. Am J Med Genet. 1999 Jul 2; 85(1):53-65.
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    105. Kovach MJ, Lin JP, Boyadjiev S, Campbell K, Mazzeo L, Herman K, Rimer LA, Frank W, Llewellyn B, Jabs EW, Gelber D, Kimonis VE. A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. Am J Hum Genet. 1999 Jun; 64(6):1580-93.
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    106. Boyadjiev SA, Jabs EW, LaBuda M, Jamal JE, Torbergsen T, Ptácek LJ, Rogers RC, Nyberg-Hansen R, Opjordsmoen S, Zeller CB, Stine OC, Stalker HJ, Zori RT, Shapiro RE. Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23. Genomics. 1999 May 15; 58(1):34-40.
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    107. Tavormina PL, Bellus GA, Webster MK, Bamshad MJ, Fraley AE, McIntosh I, Szabo J, Jiang W, Jabs EW, Wilcox WR, Wasmuth JJ, Donoghue DJ, Thompson LM, Francomano CA. A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene. Am J Hum Genet. 1999 Mar; 64(3):722-31.
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    108. Oldridge M, Zackai EH, McDonald-McGinn DM, Iseki S, Morriss-Kay GM, Twigg SR, Johnson D, Wall SA, Jiang W, Theda C, Jabs EW, Wilkie AO. De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome. Am J Hum Genet. 1999 Feb; 64(2):446-61.
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    109. Passos-Bueno MR, Wilcox WR, Jabs EW, Sertié AL, Alonso LG, Kitoh H. Clinical spectrum of fibroblast growth factor receptor mutations. Hum Mutat. 1999; 14(2):115-25.
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    110. MacDonald SM, Paznekas WA, Jabs EW. Chromosomal localization of tumor protein, translationally-controlled 1 (TPT1) encoding the human histamine releasing factor (HRF) to 13q12-->q14. Cytogenet Cell Genet. 1999; 84(1-2):128-9.
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    111. Brant SR, Fu Y, Fields CT, Baltazar R, Ravenhill G, Pickles MR, Rohal PM, Mann J, Kirschner BS, Jabs EW, Bayless TM, Hanauer SB, Cho JH. American families with Crohn's disease have strong evidence for linkage to chromosome 16 but not chromosome 12. Gastroenterology. 1998 Nov; 115(5):1056-61.
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    112. Flanagan N, Boyadjiev SA, Harper J, Kyne L, Earley M, Watson R, Jabs EW, Geraghty MT. Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome. J Med Genet. 1998 Sep; 35(9):763-6.
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    113. Cohen ME, Yin M, Paznekas WA, Schertzer M, Wood S, Jabs EW. Human SLUG gene organization, expression, and chromosome map location on 8q. Genomics. 1998 Aug 1; 51(3):468-71.
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    114. Cho JH, Nicolae DL, Gold LH, Fields CT, LaBuda MC, Rohal PM, Pickles MR, Qin L, Fu Y, Mann JS, Kirschner BS, Jabs EW, Weber J, Hanauer SB, Bayless TM, Brant SR. Identification of novel susceptibility loci for inflammatory bowel disease on chromosomes 1p, 3q, and 4q: evidence for epistasis between 1p and IBD1. Proc Natl Acad Sci U S A. 1998 Jun 23; 95(13):7502-7.
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    115. Paznekas WA, Cunningham ML, Howard TD, Korf BR, Lipson MH, Grix AW, Feingold M, Goldberg R, Borochowitz Z, Aleck K, Mulliken J, Yin M, Jabs EW. Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. Am J Hum Genet. 1998 Jun; 62(6):1370-80.
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    116. Graham JM, Braddock SR, Mortier GR, Lachman R, Van Dop C, Jabs EW. Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene. Am J Med Genet. 1998 May 26; 77(4):322-9.
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    117. Jabs EW. Toward understanding the pathogenesis of craniosynostosis through clinical and molecular correlates. Clin Genet. 1998 Feb; 53(2):79-86.
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    118. Howard TD, Guttmacher AE, McKinnon W, Sharma M, McKusick VA, Jabs EW. Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus. Am J Hum Genet. 1997 Dec; 61(6):1405-12.
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    119. Filkins K, Russo JF, Boehmer S, Camous M, Przylepa KA, Jiang W, Jabs EW. Prenatal ultrasonographic and molecular diagnosis of Apert syndrome. Prenat Diagn. 1997 Nov; 17(11):1081-4.
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    120. Boultwood J, Fidler C, Soularue P, Strickson AJ, Kostrzewa M, Jaju RJ, Cotter FE, Fairweather N, Monaco AP, Müller U, Lovett M, Jabs EW, Auffray C, Wainscoat JS. Novel genes mapping to the critical region of the 5q- syndrome. Genomics. 1997 Oct 1; 45(1):88-96.
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    121. Paznekas WA, Zhang N, Gridley T, Jabs EW. Mouse TCOF1 is expressed widely, has motifs conserved in nucleolar phosphoproteins, and maps to chromosome 18. Biochem Biophys Res Commun. 1997 Sep 8; 238(1):1-6.
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    122. Wise CA, Chiang LC, Paznekas WA, Sharma M, Musy MM, Ashley JA, Lovett M, Jabs EW. TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region. Proc Natl Acad Sci U S A. 1997 Apr 1; 94(7):3110-5.
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    123. Oldridge M, Lunt PW, Zackai EH, McDonald-McGinn DM, Muenke M, Moloney DM, Twigg SR, Heath JK, Howard TD, Hoganson G, Gagnon DM, Jabs EW, Wilkie AO. Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. Hum Mol Genet. 1997 Jan; 6(1):137-43.
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    124. Taylor EW, Xu J, Jabs EW, Meyers DA. Linkage analysis of genetic disorders. Methods Mol Biol. 1997; 68:11-25.
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    125. Howard TD, Paznekas WA, Green ED, Chiang LC, Ma N, Ortiz de Luna RI, Garcia Delgado C, Gonzalez-Ramos M, Kline AD, Jabs EW. Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. Nat Genet. 1997 Jan; 15(1):36-41.
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    126. Przylepa KA, Paznekas W, Zhang M, Golabi M, Bias W, Bamshad MJ, Carey JC, Hall BD, Stevenson R, Orlow S, Cohen MM, Jabs EW. Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. Nat Genet. 1996 Aug; 13(4):492-4.
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    127. Kokke FT, Elsawy T, Bengtsson U, Wasmuth JJ, Jabs EW, Tse CM, Donowitz M, Brant SR. A NHE3-related pseudogene is on human chromosome 10; the functional gene maps to 5p15.3. Mamm Genome. 1996 Mar; 7(3):235-6.
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    128. Meyers GA, Day D, Goldberg R, Daentl DL, Przylepa KA, Abrams LJ, Graham JM, Feingold M, Moeschler JB, Rawnsley E, Scott AF, Jabs EW. FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing. Am J Hum Genet. 1996 Mar; 58(3):491-8.
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    129. Lewanda AF, Meyers GA, Jabs EW. Craniosynostosis and skeletal dysplasias: fibroblast growth factor receptor defects. Proc Assoc Am Physicians. 1996 Jan; 108(1):19-24.
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    130. Meyers GA, Orlow SJ, Munro IR, Przylepa KA, Jabs EW. Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. Nat Genet. 1995 Dec; 11(4):462-4.
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    131. Lewanda AF, Morsey S, Reid CS, Jabs EW. Two craniosynostotic patients with 11q deletions, and review of 48 cases. Am J Med Genet. 1995 Nov 6; 59(2):193-8.
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    132. Lee C, Li X, Jabs EW, Court D, Lin CC. Human gamma X satellite DNA: an X chromosome specific centromeric DNA sequence. Chromosoma. 1995 Nov; 104(2):103-12.
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    133. Park WJ, Bellus GA, Jabs EW. Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development. Am J Hum Genet. 1995 Oct; 57(4):748-54.
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    134. Park WJ, Theda C, Maestri NE, Meyers GA, Fryburg JS, Dufresne C, Cohen MM, Jabs EW. Analysis of phenotypic features and FGFR2 mutations in Apert syndrome. Am J Hum Genet. 1995 Aug; 57(2):321-8.
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    135. Park WJ, Meyers GA, Li X, Theda C, Day D, Orlow SJ, Jones MC, Jabs EW. Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. Hum Mol Genet. 1995 Jul; 4(7):1229-33.
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    136. Li X, Park WJ, Pyeritz RE, Jabs EW. Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome. Nat Genet. 1995 Mar; 9(3):232-3.
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    137. Carow CE, Kim E, Hawkins AL, Webb HD, Griffin CA, Jabs EW, Civin CI, Small D. Localization of the human stem cell tyrosine kinase-1 gene (FLT3) to 13q12-->q13. Cytogenet Cell Genet. 1995; 70(3-4):255-7.
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    138. Narayanan V, Ripepi B, Jabs EW, Hawkins A, Griffin C, Tennekoon G. Partial structure and mapping of the human myelin P2 protein gene. J Neurochem. 1994 Dec; 63(6):2010-3.
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    139. Lewanda AF, Jabs EW. Genetics of craniofacial disorders. Curr Opin Pediatr. 1994 Dec; 6(6):690-7.
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    140. Jabs EW, Li X, Scott AF, Meyers G, Chen W, Eccles M, Mao JI, Charnas LR, Jackson CE, Jaye M. Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nat Genet. 1994 Nov; 8(3):275-9.
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    141. Craig RW, Jabs EW, Zhou P, Kozopas KM, Hawkins AL, Rochelle JM, Seldin MF, Griffin CA. Human and mouse chromosomal mapping of the myeloid cell leukemia-1 gene: MCL1 maps to human chromosome 1q21, a region that is frequently altered in preneoplastic and neoplastic disease. Genomics. 1994 Sep 15; 23(2):457-63.
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    142. Yamaoka LH, Westbrook CA, Speer MC, Gilchrist JM, Jabs EW, Schweins EG, Stajich JM, Gaskell PC, Roses AD, Pericak-Vance MA. Development of a microsatellite genetic map spanning 5q31-q33 and subsequent placement of the LGMD1A locus between D5S178 and IL9. Neuromuscul Disord. 1994 Sep-Nov; 4(5-6):471-5.
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    143. Wechsler DS, Hawkins AL, Li X, Jabs EW, Griffin CA, Dang CV. Localization of the human Mxi1 transcription factor gene (MXI1) to chromosome 10q24-q25. Genomics. 1994 Jun; 21(3):669-72.
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    144. Sutter TR, Tang YM, Hayes CL, Wo YY, Jabs EW, Li X, Yin H, Cody CW, Greenlee WF. Complete cDNA sequence of a human dioxin-inducible mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2. J Biol Chem. 1994 May 6; 269(18):13092-9.
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    145. Jabs EW, Thomas PJ, Bernstein M, Coss C, Ferreira GC, Pedersen PL. Chromosomal localization of genes required for the terminal steps of oxidative metabolism: alpha and gamma subunits of ATP synthase and the phosphate carrier. Hum Genet. 1994 May; 93(5):600-2.
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    146. Li X, Wise CA, Le Paslier D, Hawkins AL, Griffin CA, Pittler SJ, Lovett M, Jabs EW. A YAC contig of approximately 3 Mb from human chromosome 5q31-->q33. Genomics. 1994 Feb; 19(3):470-7.
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    147. Malo MS, Blanchard BJ, Andresen JM, Srivastava K, Chen XN, Li X, Jabs EW, Korenberg JR, Ingram VM. Localization of a putative human brain sodium channel gene (SCN1A) to chromosome band 2q24. Cytogenet Cell Genet. 1994; 67(3):178-86.
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    148. Lewanda AF, Cohen MM, Hood J, Morsey S, Walters M, Kennedy JL, Jabs EW. Cytogenetic survey of Apert syndrome. Reevaluation of a translocation (2;9)(p11.2;q34.2) in a patient suggests the breakpoints are not related to the disorder. Am J Dis Child. 1993 Dec; 147(12):1306-8.
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    149. Jabs EW, Müller U, Li X, Ma L, Luo W, Haworth IS, Klisak I, Sparkes R, Warman ML, Mulliken JB, et al. A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis. Cell. 1993 Nov 5; 75(3):443-50.
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    150. Ding C, Li X, Griffin CA, Jabs EW, Hawkins AL, Levine MA. The gene for human phosducin (PDC), a soluble protein that binds G-protein beta gamma dimers, maps to 1q25-q31.1. Genomics. 1993 Nov; 18(2):457-9.
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    151. Jabs EW, Li X, Lovett M, Yamaoka LH, Taylor E, Speer MC, Coss C, Cadle R, Hall B, Brown K, et al. Genetic and physical mapping of the Treacher Collins syndrome locus with respect to loci in the chromosome 5q3 region. Genomics. 1993 Oct; 18(1):7-13.
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    152. Reid CS, McMorrow LE, McDonald-McGinn DM, Grace KJ, Ramos FJ, Zackai EH, Cohen MM, Jabs EW. Saethre-Chotzen syndrome with familial translocation at chromosome 7p22. Am J Med Genet. 1993 Oct 1; 47(5):637-9.
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    153. Percy ME, Dearie TG, Jabs EW, Bauer SJ, Chodakowski B, Somerville MJ, Lennox A, McLachlan DR, Baldini A, Miller DA. Family with 22-derived marker chromosome and late-onset dementia of the Alzheimer type: II. Further cytogenetic analysis of the marker and characterization of the high-level repeat sequences using fluorescence in situ hybridization. Am J Med Genet. 1993 Aug 1; 47(1):14-9.
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    154. Moon C, Preston GM, Griffin CA, Jabs EW, Agre P. The human aquaporin-CHIP gene. Structure, organization, and chromosomal localization. J Biol Chem. 1993 Jul 25; 268(21):15772-8.
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    155. Arn PH, Mankinen C, Jabs EW. Mild mandibulofacial dysostosis in a child with a deletion of 3p. Am J Med Genet. 1993 Jun 15; 46(5):534-6.
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    156. Bowcock AM, Gerken SC, Barnes RI, Shiang R, Jabs EW, Warren AC, Antonarakis S, Retief AE, Vergnaud G, Leppert M, et al. The CEPH consortium linkage map of human chromosome 13. Genomics. 1993 May; 16(2):486-96.
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    157. Griffin CA, Ding CL, Jabs EW, Hawkins AL, Li X, Levine MA. Human rod cGMP-gated cation channel gene maps to 4p12-->centromere by chromosomal in situ hybridization. Genomics. 1993 Apr; 16(1):302-3.
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    158. Gregor P, Reeves RH, Jabs EW, Yang X, Dackowski W, Rochelle JM, Brown RH, Haines JL, O'Hara BF, Uhl GR, et al. Chromosomal localization of glutamate receptor genes: relationship to familial amyotrophic lateral sclerosis and other neurological disorders of mice and humans. Proc Natl Acad Sci U S A. 1993 Apr 1; 90(7):3053-7.
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    159. Umbricht CB, Erdile LF, Jabs EW, Kelly TJ. Cloning, overexpression, and genomic mapping of the 14-kDa subunit of human replication protein A. J Biol Chem. 1993 Mar 25; 268(9):6131-8.
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    160. Surratt CK, Persico AM, Yang XD, Edgar SR, Bird GS, Hawkins AL, Griffin CA, Li X, Jabs EW, Uhl GR. A human synaptic vesicle monoamine transporter cDNA predicts posttranslational modifications, reveals chromosome 10 gene localization and identifies TaqI RFLPs. FEBS Lett. 1993 Mar 8; 318(3):325-30.
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    161. Myers JC, Sun MJ, D'Ippolito JA, Jabs EW, Neilson EG, Dion AS. Human cDNA clones transcribed from an unusually high-molecular-weight RNA encode a new collagen chain. Gene. 1993 Jan 30; 123(2):211-7.
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    162. Vamvakopoulos NC, Griffin CA, Hawkins AL, Lee C, Chrousos GP, Jabs EW. Mapping the intron-containing human hsp90 alpha (HSPCAL4) gene to chromosome band 14q32. Cytogenet Cell Genet. 1993; 64(3-4):224-6.
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    163. Chang-Yeh A, Jabs EW, Li X, Dracopoli NC, Huang RC. The IPP gene is assigned to human chromosome 1p32-1p22. Genomics. 1993 Jan; 15(1):239-41.
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    164. Jabs EW, Tuck-Muller CM, Anhalt GJ, Earnshaw W, Wise RA, Wigley F. Cytogenetic survey in systemic sclerosis: correlation of aneuploidy with the presence of anticentromere antibodies. Cytogenet Cell Genet. 1993; 63(3):169-75.
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    165. Cooper LF, Coss CA, Jabs EW. Reevaluation of the origin of a marker chromosome in a patient with 47,XX,r(13)(p11q34), + mar by molecular cytogenetics. Clin Genet. 1992 Dec; 42(6):323-5.
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    166. Vandenbergh DJ, Persico AM, Hawkins AL, Griffin CA, Li X, Jabs EW, Uhl GR. Human dopamine transporter gene (DAT1) maps to chromosome 5p15.3 and displays a VNTR. Genomics. 1992 Dec; 14(4):1104-6.
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    167. Huebner K, Cannizzaro LA, Jabs EW, Kivirikko S, Manzone H, Pihlajaniemi T, Myers JC. Chromosomal assignment of a gene encoding a new collagen type (COL15A1) to 9q21 --> q22. Genomics. 1992 Oct; 14(2):220-4.
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    168. Xiao L, Celano P, Mank AR, Griffin C, Jabs EW, Hawkins AL, Casero RA. Structure of the human spermidine/spermine N1-acetyltransferase gene (exon/intron gene organization and localization to Xp22.1). Biochem Biophys Res Commun. 1992 Sep 30; 187(3):1493-502.
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    169. Sieburth D, Jabs EW, Warrington JA, Li X, Lasota J, LaForgia S, Kelleher K, Huebner K, Wasmuth JJ, Wolf SF. Assignment of genes encoding a unique cytokine (IL12) composed of two unrelated subunits to chromosomes 3 and 5. Genomics. 1992 Sep; 14(1):59-62.
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    170. Li X, Jaye M, Crumley G, Jabs EW. Dinucleotide repeat polymorphism in the human fibroblast growth factor acidic (FGFA) gene on chromosome 5. Hum Mol Genet. 1992 Jun; 1(3):216.
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    171. Holden KR, Jabs EW, Sponseller PD. Roberts/pseudothalidomide syndrome and normal intelligence: approaches to diagnosis and management. Dev Med Child Neurol. 1992 Jun; 34(6):534-9.
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    172. Fechner PY, Smith KD, Jabs EW, Migeon CJ, Berkovitz GD. Partial gonadal dysgenesis in a patient with a marker Y chromosome. Am J Med Genet. 1992 Apr 1; 42(6):807-12.
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    173. Stetten G, Blakemore KJ, Courter AM, Coss CA, Jabs EW. Prenatal identification of small mosaic markers of different chromosomal origins. Prenat Diagn. 1992 Feb; 12(2):83-91.
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    174. Jabs EW, Li X, Coss CA, Taylor EW, Meyers DA, Weber JL. Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3. Genomics. 1991 Sep; 11(1):193-8.
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    175. Jabs EW, Coss CA, Hayflick SJ, Whitmore TE, Pauli RM, Kirkpatrick SJ, Meyers DA, Goldberg R, Day DW, Rosenbaum KN. Chromosomal deletion 4p15.32----p14 in a Treacher Collins syndrome patient: exclusion of the disease locus from and mapping of anonymous DNA sequences to this region. Genomics. 1991 Sep; 11(1):188-92.
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    176. Jabs EW, Tuck-Muller CM, Cusano R, Rattner JB. Studies of mitotic and centromeric abnormalities in Roberts syndrome: implications for a defect in the mitotic mechanism. Chromosoma. 1991 May; 100(4):251-61.
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    177. Joziasse DH, Shaper JH, Jabs EW, Shaper NL. Characterization of an alpha 1----3-galactosyltransferase homologue on human chromosome 12 that is organized as a processed pseudogene. J Biol Chem. 1991 Apr 15; 266(11):6991-8.
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    178. Blanché H, Zoghbi HY, Jabs EW, de Gouyon B, Zunec R, Dausset J, Cann HM. A centromere-based genetic map of the short arm of human chromosome 6. Genomics. 1991 Mar; 9(3):420-8.
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    179. Jabs EW, Warren AC, Taylor EW, Colyer CR, Meyers DA, Antonarakis SE. Alphoid DNA polymorphisms for chromosome 21 can be distinguished from those of chromosome 13 using probes homologous to both. Genomics. 1991 Jan; 9(1):141-6.
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    180. Arn PH, Li X, Smith C, Hsu M, Schwartz DC, Jabs EW. Analysis of DNA restriction fragments greater than 5.7 Mb in size from the centromeric region of human chromosomes. Mamm Genome. 1991; 1(4):249-54.
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    181. Arn PH, Jabs EW. Characterization of human centromeric regions using restriction enzyme banding, alphoid DNA and structural alterations. Mol Biol Med. 1990 Aug; 7(4):371-7.
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    182. Jabs EW, Tuck-Muller CM, Cusano R, Rattner JB. Centromere separation and aneuploidy in human mitotic mutants: Roberts syndrome. Prog Clin Biol Res. 1989; 318:111-8.
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    183. Arn PH, Ketabgian AA, Smith C, Schwartz DC, Jabs EW. The macromolecular organization of human centromeric regions. Prog Clin Biol Res. 1989; 318:1-8.
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    184. Jabs EW, Goble CA, Cutting GR. Macromolecular organization of human centromeric regions reveals high-frequency, polymorphic macro DNA repeats. Proc Natl Acad Sci U S A. 1989 Jan; 86(1):202-6.
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    185. Jabs EW, Carpenter N. Molecular cytogenetic evidence for amplification of chromosome-specific alphoid sequences at enlarged C-bands on chromosome 6. Am J Hum Genet. 1988 Jul; 43(1):69-74.
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    186. Driscoll DJ, Jabs EW, Alcorn D, Maumenee IH, Brusilow SW, Valle D. Corneal tyrosine crystals in transient neonatal tyrosinemia. J Pediatr. 1988 Jul; 113(1 Pt 1):91-3.
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    187. Youssoufian H, Chance P, Tuck-Muller CM, Jabs EW. Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: assignment of a human ferritin gene. Hum Genet. 1988 Mar; 78(3):267-70.
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    188. Jabs EW, Persico MG. Characterization of human centromeric regions of specific chromosomes by means of alphoid DNA sequences. Am J Hum Genet. 1987 Sep; 41(3):374-90.
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    189. Bartholomew DW, Jabs EW, Levin LS, Ribovich R. Single maxillary central incisor and coloboma in hypomelanosis of Ito. Clin Genet. 1987 Jun; 31(6):370-3.
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    190. Cooper LF, Jabs EW. Aural atresia associated with multiple congenital anomalies and mental retardation: a new syndrome. J Pediatr. 1987 May; 110(5):747-50.
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    191. Van Keuren ML, Watkins PC, Drabkin HA, Jabs EW, Gusella JF, Patterson D. Regional localization of DNA sequences on chromosome 21 using somatic cell hybrids. Am J Hum Genet. 1986 Jun; 38(6):793-804.
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    192. Jabs EW, Meyers DA, Bias WB. Linkage studies of polymorphic, repeated DNA sequences in centromeric regions of human chromosomes. Am J Hum Genet. 1986 Mar; 38(3):297-308.
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    193. Jabs EW, Wolf SF, Migeon BR. Characterization of a cloned DNA sequence that is present at centromeres of all human autosomes and the X chromosome and shows polymorphic variation. Proc Natl Acad Sci U S A. 1984 Aug; 81(15):4884-8.
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    194. Jabs EW, Wolf SF, Migeon BR. Characterization of reiterated human DNA with respect to mammalian X chromosome homology. Somat Cell Mol Genet. 1984 Jan; 10(1):93-103.
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    195. Lavery MA, Green WR, Jabs EW, Luckenbach MW, Cox JL. Ocular histopathology and ultrastructure of Sanfilippo's syndrome, type III-B. Arch Ophthalmol. 1983 Aug; 101(8):1263-74.
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    196. Mules EH, Stamberg J, Jabs EW, Leonard CO. Two different structural abnormalities of chromosome 13 in offspring of chromosomally normal parents with two fragile sites. Clin Genet. 1983 May; 23(5):380-5.
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    197. Nager GT, Stein SA, Dorst JP, Holliday MJ, Kennedy DW, Diehn KW, Jabs EW. Sclerosteosis involving the temporal bone: clinical and radiologic aspects. Am J Otolaryngol. 1983 Jan-Feb; 4(1):1-17.
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    198. Jabs EW, Stamberg J, Leonard CO. Tetrasomy 21 in an infant with Down syndrome and congenital leukemia. Am J Med Genet. 1982 May; 12(1):91-5.
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    199. Stamberg J, Jabs EW, Elias E. Terminal deletion(4)(q33) in a male infant. Clin Genet. 1982 Feb; 21(2):125-9.
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    200. Jabs EW, Leonard CO, Phillips JA. New features of the McKusick-Kaufman syndrome. Birth Defects Orig Artic Ser. 1982; 18(3B):161-6.
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