Search for a doctor

Ethylin W. Jabs, M.D.

  1. Clinical Cytogeneticist
  2. Clinical Molecular Geneticist
  3. Medical Geneticist
  4. Pediatrician
Request an Appointment

Publications

  1. Strasser AS, Gonzalez-Reiche AS, Zhou X, Valdebenito-Maturana B, Ye X, Zhang B, Wu M, van Bakel H, Jabs EW. Limb reduction in an Esco2 cohesinopathy mouse model is mediated by p53-dependent apoptosis and vascular disruption. Nat Commun. 2024 Aug 21; 15 (1):7154
    View PubMed
  2. Liberton DK, Almpani K, Mishra R, Bassim C, Van Ryzin C, Jabs EW. Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness. Int J Environ Res Public Health. 2024 May 13; 21 (5)
    View PubMed
  3. Dodd DO, Mechaussier S, Yeyati PL, McPhie F, Anderson JR, Khoo CJ, Shoemark A, Gupta DK, Attard T, Zariwala MA, Legendre M, Bracht D, Wallmeier J, Gui M, Fassad MR, Parry DA, Tennant PA, Meynert A, Wheway G, Fares-Taie L, Black HA, Mitri-Frangieh R, Faucon C, Kaplan J, Patel M, McKie L, Megaw R, Gatsogiannis C, Mohamed MA, Aitken S, Gautier P, Reinholt FR, Hirst RA, O'Callaghan C, Heimdal K, Bottier M, Escudier E, Crowley S, Descartes M, Jabs EW, Kenia P, Amiel J, Bacci GM, Calogero C, Palazzo V, Tiberi L, Blumlein U, Rogers A, Wambach JA, Wegner DJ, Fulton AB, Kenna M, Rosenfeld M, Holm IA, Quigley A, Hall EA, Murphy LC, Cassidy DM, von Kriegsheim A, Papon JF, Pasquier L, Murris MS, Chalmers JD, Hogg C, Macleod KA, Urquhart DS, Unger S, Aitman TJ, Amselem S, Leigh MW, Knowles MR, Omran H, Mitchison HM, Brown A, Marsh JA, Welburn JPI, Ti SC, Horani A, Rozet JM, Perrault I, Mill P, Scottish Genomes Partnership16//Genomics England Research Consortium45//Undiagnosed Diseases Network46. Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules. Science. 2024 Apr 26; 384 (6694):eadf5489
    View PubMed
  4. Fisher SC, Romitti PA, Tracy M, Howley MM, Jabs EW, Browne ML, National Birth Defects Prevention Study. Associations between maternal periconceptional alcohol consumption and risk of omphalocele among offspring, National Birth Defects Prevention Study, 1997-2011. Prev Med. 2024 Mar; 180:107891 Epub 2024 Feb 09
    View PubMed
  5. Sapkota N, Zhang Y, Motch Perrine SM, Hsi Y, Li S, Wu M, Holmes G, Abdulai AR, Jabs EW, Richtsmeier JT, Chen DZ. ConUNETR: A conditional transformer network for 3D Micro-CT embryonic cartilage segmentation IEEE International Symposium on Biomedical Imaging (ISBI). 2024.
  6. Japee S, Jordan J, Licht J, Lokey S, Chen G, Snow J, Jabs EW, Webb BD, Engle EC, Manoli I, Baker C, Ungerleider LG, Moebius Syndrome Research Consortium. Inability to move one's face dampens facial expression perception. Cortex. 2023 Dec; 169:35-49 Epub 2023 Sept 30
    View PubMed
  7. Gates RW, Webb BD, Stevenson DA, Jabs EW, DeFilippo C, Ruzhnikov MRZ, Tise CG. Monozygotic twins discordant for a congenital cranial dysinnervation disorder with features of Moebius syndrome. Am J Med Genet A. 2023 Nov; 191 (11):2743-2748 Epub 2023 Sept 07
    View PubMed
  8. Tenney AP, Di Gioia SA, Webb BD, Chan WM, de Boer E, Garnai SJ, Barry BJ, Ray T, Kosicki M, Robson CD, Zhang Z, Collins TE, Gelber A, Pratt BM, Fujiwara Y, Varshney A, Lek M, Warburton PE, Van Ryzin C, Lehky TJ, Zalewski C, King KA, Brewer CC, Thurm A, Snow J, Facio FM, Narisu N, Bonnycastle LL, Swift A, Chines PS, Bell JL, Mohan S, Whitman MC, Staffieri SE, Elder JE, Demer JL, Torres A, Rachid E, Al-Haddad C, Boustany RM, Mackey DA, Brady AF, Fenollar-Cortes M, Fradin M, Kleefstra T, Padberg GW, Raskin S, Sato MT, Orkin SH, Parker SCJ, Hadlock TA, Vissers LELM, van Bokhoven H, Jabs EW, Collins FS, Pennacchio LA, Manoli I, Engle EC. Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis. Nat Genet. 2023 Jul; 55 (7):1149-1163 Epub 2023 June 29
    View PubMed
  9. Fisher SC, Howley MM, Romitti PA, Desrosiers TA, Jabs EW, Browne ML, National Birth Defects Prevention Study. Maternal periconceptional alcohol consumption and gastroschisis in the National Birth Defects Prevention Study, 1997-2011. Paediatr Perinat Epidemiol. 2022 Nov; 36 (6):782-791 Epub 2022 Apr 18
    View PubMed
  10. Bartos MN, Scott SA, Jabs EW, Naik H. Attitudes on pharmacogenomic results as secondary findings among medical geneticists. Pharmacogenet Genomics. 2022 Oct 1; 32 (8):273-280 Epub 2022 Aug 22
    View PubMed
  11. Willie D, Holmes G, Jabs EW, Wu M. Cleft Palate in Apert Syndrome. J Dev Biol. 2022 Aug 11; 10 (3)
    View PubMed
  12. Pitirri MK, Durham EL, Romano NA, Santos JI, Coupe AP, Zheng H, Chen DZ, Kawasaki K, Jabs EW, Richtsmeier JT, Wu M, Motch Perrine SM. Meckel's Cartilage in Mandibular Development and Dysmorphogenesis. Front Genet. 2022; 13:871927 Epub 2022 May 16
    View PubMed
  13. Holmes G, Gonzalez-Reiche AS, Saturne M, Motch Perrine SM, Zhou X, Borges AC, Shewale B, Richtsmeier JT, Zhang B, van Bakel H, Jabs EW. Single-cell analysis identifies a key role for Hhip in murine coronal suture development. Nat Commun. 2021 Dec 8; 12 (1):7132 Epub 2021 Dec 08
    View PubMed
  14. Whitman MC, Barry BJ, Robson CD, Facio FM, Van Ryzin C, Chan WM, Lehky TJ, Thurm A, Zalewski C, King KA, Brewer C, Almpani K, Lee JS, Delaney A, FitzGibbon EJ, Lee PR, Toro C, Paul SM, Abdul-Rahman OA, Webb BD, Jabs EW, Moller HU, Larsen DA, Antony JH, Troedson C, Ma A, Ragnhild G, Wirgenes KV, Tham E, Kvarnung M, Maarup TJ, MacKinnon S, Hunter DG, Collins FS, Manoli I, Engle EC. TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy. Hum Genet. 2021 Dec; 140 (12):1709-1731 Epub 2021 Oct 15
    View PubMed
  15. Singh R, Cohen ASA, Poulton C, Hjortshoj TD, Akahira-Azuma M, Mendiratta G, Khan WA, Azmanov DN, Woodward KJ, Kirchhoff M, Shi L, Edelmann L, Baynam G, Scott SA, Jabs EW. Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay. Cold Spring Harb Mol Case Stud. 2021 Jun; 7 (3) Epub 2021 June 11
    View PubMed
  16. Webb BD, Manoli I, Engle EC, Jabs EW. A framework for the evaluation of patients with congenital facial weakness. Orphanet J Rare Dis. 2021 Apr 07; 16(1):158.
    View PubMed
  17. Lam AS, Liu CC, Deutsch GH, Rivera J, Perkins JA, Holmes G, Jabs EW, Cunningham ML, Dahl JP. Genotype-Phenotype Correlation of Tracheal Cartilaginous Sleeves and Fgfr2 Mutations in Mice. Laryngoscope. 2021 Apr; 131 (4):E1349-E1356 Epub 2020 Sept 04
    View PubMed
  18. Lehky T, Joseph R, Toro C, Wu T, Van Ryzin C, Gropman A, Facio FM, Webb BD, Jabs EW, Barry BS, Engle EC, Collins FS, Manoli I, Moebius Syndrome Research Consortium. Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies. Muscle Nerve. 2021 Apr; 63 (4):516-524 Epub 2021 Jan 19
    View PubMed
  19. Motch Perrine SM, Wu M, Holmes G, Bjork BC, Jabs EW, Richtsmeier JT. Phenotypes, Developmental Basis, and Genetics of Pierre Robin Complex. J Dev Biol. 2020 Dec 5; 8 (4) Epub 2020 Dec 05
    View PubMed
  20. Samuels BD, Aho R, Brinkley JF, Bugacov A, Feingold E, Fisher S, Gonzalez-Reiche AS, Hacia JG, Hallgrimsson B, Hansen K, Harris MP, Ho TV, Holmes G, Hooper JE, Jabs EW, Jones KL, Kesselman C, Klein OD, Leslie EJ, Li H, Liao EC, Long H, Lu N, Maas RL, Marazita ML, Mohammed J, Prescott S, Schuler R, Selleri L, Spritz RA, Swigut T, van Bakel H, Visel A, Welsh I, Williams C, Williams TJ, Wysocka J, Yuan Y, Chai Y. FaceBase 3: analytical tools and FAIR resources for craniofacial and dental research. Development. 2020 Sep 21; 147 (18) Epub 2020 Sept 21
    View PubMed
  21. Holmes G, Gonzalez-Reiche AS, Lu N, Zhou X, Rivera J, Kriti D, Sebra R, Williams AA, Donovan MJ, Potter SS, Pinto D, Zhang B, van Bakel H, Jabs EW. Integrated Transcriptome and Network Analysis Reveals Spatiotemporal Dynamics of Calvarial Suturogenesis. Cell Rep. 2020 Jul 7; 32 (1):107871
    View PubMed
  22. Sadeghi N, Hutchinson E, Van Ryzin C, FitzGibbon EJ, Butman JA, Webb BD, Facio F, Brooks BP, Collins FS, Jabs EW, Engle EC, Manoli I, Pierpaoli C, Moebius Syndrome Research Consortium. Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry. Brain Commun. 2020; 2 (1):fcaa014 Epub 2020 Feb 14
    View PubMed
  23. Holmes G, Gonzalez-Reiche AS, Lu N, vanBakel H, Jabs EW. Skeletal stem cells in craniofacial bone Encyclopedia of Bone Biology. 2020.
  24. Wu M, Kriti D, van Bakel H, Jabs EW, Holmes G. Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis. J Vis Exp. 2019 Dec 18; (154).
    View PubMed
  25. Motch Perrine SM, Wu M, Stephens NB, Kriti D, van Bakel H, Jabs EW, Richtsmeier JT. Mandibular dysmorphology due to abnormal embryonic osteogenesis in FGFR2-related craniosynostosis mice. Dis Model Mech. 2019 May 30; 12 (5)
    View PubMed
  26. Sewda A, White SR, Erazo M, Hao K, Garcia-Fructuoso G, Fernandez-Rodriguez I, Heuze Y, Richtsmeier JT, Romitti PA, Reva B, Jabs EW, Peter I. Nonsyndromic craniosynostosis: novel coding variants. Pediatr Res. 2019 Mar; 85 (4):463-468 Epub 2019 Jan 14
    View PubMed
  27. Holmes G, O'Rourke C, Motch Perrine SM, Lu N, van Bakel H, Richtsmeier JT, Jabs EW. Midface and upper airway dysgenesis in FGFR2-related craniosynostosis involves multiple tissue-specific and cell cycle effects. Development. 2018 Oct 5; 145 (19) Epub 2018 Oct 05
    View PubMed
  28. Lesciotto KM, Heuzé Y, Jabs EW, Bernstein JM, Richtsmeier JT. Choanal Atresia and Craniosynostosis: Development and Disease. Plast Reconstr Surg. 2018 Jan; 141(1):156-168.
    View PubMed
  29. Holmes G, Zhang L, Rivera J, Murphy R, Assouline C, Sullivan L, Oppeneer T, Jabs EW. C-type natriuretic peptide analog treatment of craniosynostosis in a Crouzon syndrome mouse model. PLoS One. 2018; 13 (7):e0201492 Epub 2018 July 26
    View PubMed
  30. Reiner J, Pisani L, Qiao W, Singh R, Yang Y, Shi L, Khan WA, Sebra R, Cohen N, Babu A, Edelmann L, Jabs EW, Scott SA. Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet-Biedl Syndrome 9 (BBS9) deletion. NPJ Genom Med. 2018; 3:3 Epub 2018 Jan 22
    View PubMed
  31. Telegrafi A, Webb BD, Robbins SM, Speck-Martins CE, FitzPatrick D, Fleming L, Redett R, Dufke A, Houge G, van Harssel JJT, Verloes A, Robles A, Manoli I, Engle EC, Jabs EW, Valle D, Carey J, Hoover-Fong JE, Sobreira NLM, Moebius Syndrome Research Consortium. Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome. Am J Med Genet A. 2017 Oct; 173 (10):2763-2771 Epub 2017 Aug 04
    View PubMed
  32. Di Gioia SA, Connors S, Matsunami N, Cannavino J, Rose MF, Gilette NM, Artoni P, de Macena Sobreira NL, Chan WM, Webb BD, Robson CD, Cheng L, Van Ryzin C, Ramirez-Martinez A, Mohassel P, Leppert M, Scholand MB, Grunseich C, Ferreira CR, Hartman T, Hayes IM, Morgan T, Markie DM, Fagiolini M, Swift A, Chines PS, Speck-Martins CE, Collins FS, Jabs EW, Bonnemann CG, Olson EN, Carey JC, Robertson SP, Manoli I, Engle EC, Moebius Syndrome Research Consortium. A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. Nat Commun. 2017 Jul 6; 8:16077 Epub 2017 July 06
    View PubMed
  33. Motch Perrine SM, Stecko T, Neuberger T, Jabs EW, Ryan TM, Richtsmeier JT. Integration of Brain and Skull in Prenatal Mouse Models of Apert and Crouzon Syndromes. Front Hum Neurosci. 2017; 11:369 Epub 2017 July 25
    View PubMed
  34. Percival CJ, Kawasaki K, Huang Y, Weiss K, Jabs EW, Li R, Richtsmeier JT. The Contribution of Angiogenesis to Variation in Bone Development and Evaluation Building Bones: Bone Development and Formation in Anthropology. 2017; 26-51.
  35. Sherif RD, Massenburg BB, Weissler EH, Jabs EW, Taub PJ. Reconstructive Surgery in Times of Conflict. J Craniofac Surg. 2016 Sep; 27 (6):1506-9
    View PubMed
  36. Kelly JJ, Esseltine JL, Shao Q, Jabs EW, Sampson J, Auranen M, Bai D, Laird DW. Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia. Mol Biol Cell. 2016 Jul 15; 27 (14):2172-85 Epub 2016 May 25
    View PubMed
  37. Brinkley JF, Fisher S, Harris MP, Holmes G, Hooper JE, Jabs EW, Jones KL, Kesselman C, Klein OD, Maas RL, Marazita ML, Selleri L, Spritz RA, van Bakel H, Visel A, Williams TJ, Wysocka J, FaceBase Consortium, Chai Y. The FaceBase Consortium: a comprehensive resource for craniofacial researchers. Development. 2016 Jul 15; 143(14):2677-88. Epub 2016 Jun 10.
    View PubMed
  38. Sanderson SC, Suckiel SA, Zweig M, Bottinger EP, Jabs EW, Richardson LD. Development and preliminary evaluation of an online educational video about whole-genome sequencing for research participants, patients, and the general public. Genet Med. 2016 May; 18 (5):501-12 Epub 2015 Sept 03
    View PubMed
  39. Ye X, Guilmatre A, Reva B, Peter I, Heuze Y, Richtsmeier JT, Fox DJ, Goedken RJ, Jabs EW, Romitti PA. Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis. Plast Reconstr Surg. 2016 Mar; 137 (3):952-961
    View PubMed
  40. Kornreich D, Mitchell AA, Webb BD, Cristian I, Jabs EW. Quantitative Assessment of Facial Asymmetry Using Three-Dimensional Surface Imaging in Adults: Validating the Precision and Repeatability of a Global Approach. Cleft Palate Craniofac J. 2016 Jan; 53 (1):126-31 Epub 2014 Dec 09
    View PubMed
  41. Bu L, Chen Q, Wang H, Zhang T, Hetmanski JB, Schwender H, Parker M, Chou YH, Yeow V, Chong SS, Zhang B, Jabs EW, Scott AF, Beaty TH. Novel evidence of association with nonsyndromic cleft lip with or without cleft palate was shown for single nucleotide polymorphisms in FOXF2 gene in an Asian population. Birth Defects Res A Clin Mol Teratol. 2015 Oct; 103 (10):857-62 Epub 2015 Aug 17
    View PubMed
  42. Conway JC, Taub PJ, Kling R, Oberoi K, Doucette J, Jabs EW. Ten-year experience of more than 35,000 orofacial clefts in Africa. BMC Pediatr. 2015 Feb 14; 15:8
    View PubMed
  43. Holmes G, van Bakel H, Zhou X, Losic B, Jabs EW. BCL11B expression in intramembranous osteogenesis during murine craniofacial suture development. Gene Expr Patterns. 2015 Jan; 17 (1):16-25 Epub 2014 Dec 12
    View PubMed
  44. Scott AF, Mohr DW, Kasch LM, Barton JA, Pittiglio R, Ingersoll R, Craig B, Marosy BA, Doheny KF, Bromley WC, Roderick TH, Chassaing N, Calvas P, Prabhu SS, Jabs EW. Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing. JAMA Ophthalmol. 2014 Oct; 132 (10):1215-20
    View PubMed
  45. Kling RR, Taub PJ, Ye X, Jabs EW. Oral clefting in china over the last decade: 205,679 patients. Plast Reconstr Surg Glob Open. 2014 Oct; 2 (10):e236 Epub 2014 Nov 07
    View PubMed
  46. Heuzé Y, Holmes G, Peter I, Richtsmeier JT, Jabs EW. Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses. Curr Genet Med Rep. 2014 Sep 01; 2(3):135-145.
    View PubMed
  47. Brydon CA, Conway J, Kling R, Mehta L, Jabs EW, Taub PJ. Cleft lip and/or palate: one organization's experience with more than a quarter million surgeries during the past decade. J Craniofac Surg. 2014 Sep; 25 (5):1601-9
    View PubMed
  48. VanderMeer JE, Lozano R, Sun M, Xue Y, Daentl D, Jabs EW, Wilcox WR, Ahituv N. A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form. Hum Mutat. 2014 Aug; 35 (8):945-8 Epub 2014 June 03
    View PubMed
  49. Heuze Y, Singh N, Basilico C, Jabs EW, Holmes G, Richtsmeier JT. Morphological comparison of the craniofacial phenotypes of mouse models expressing the Apert FGFR2 S252W mutation in neural crest- or mesoderm-derived tissues. Bone. 2014 Jun; 63:101-9 Epub 2014 Mar 13
    View PubMed
  50. Percival CJ, Huang Y, Jabs EW, Li R, Richtsmeier JT. Embryonic craniofacial bone volume and bone mineral density in Fgfr2(+/P253R) and nonmutant mice. Dev Dyn. 2014 Apr; 243 (4):541-51 Epub 2014 Feb 07
    View PubMed
  51. Rucker JC, Webb BD, Frempong T, Gaspar H, Naidich TP, Jabs EW. Characterization of ocular motor deficits in congenital facial weakness: Moebius and related syndromes. Brain. 2014 Apr; 137 (Pt 4):1068-79 Epub 2014 Feb 21
    View PubMed
  52. Motch Perrine SM, Cole TM 3rd, Martinez-Abadias N, Aldridge K, Jabs EW, Richtsmeier JT. Craniofacial divergence by distinct prenatal growth patterns in Fgfr2 mutant mice. BMC Dev Biol. 2014 Feb 28; 14:8
    View PubMed
  53. Wu T, Schwender H, Ruczinski I, Murray JC, Marazita ML, Munger RG, Hetmanski JB, Parker MM, Wang P, Murray T, Taub M, Li S, Redett RJ, Fallin MD, Liang KY, Wu-Chou YH, Chong SS, Yeow V, Ye X, Wang H, Huang S, Jabs EW, Shi B, Wilcox AJ, Jee SH, Scott AF, Beaty TH. Evidence of gene-environment interaction for two genes on chromosome 4 and environmental tobacco smoke in controlling the risk of nonsyndromic cleft palate. PLoS One. 2014; 9(2):e88088. Epub 2014 Feb 06.
    View PubMed
  54. Chen Q, Wang H, Schwender H, Zhang T, Hetmanski JB, Chou YH, Ye X, Yeow V, Chong SS, Zhang B, Jabs EW, Parker MM, Scott AF, Beaty TH. Joint testing of genotypic and gene-environment interaction identified novel association for BMP4 with non-syndromic CL/P in an Asian population using data from an International Cleft Consortium. PLoS One. 2014; 9 (10):e109038 Epub 2014 Oct 10
    View PubMed
  55. Webb BD, Frempong T, Naidich TP, Gaspar H, Jabs EW, Rucker JC. Mirror movements identified in patients with moebius syndrome. Tremor Other Hyperkinet Mov (N Y). 2014; 4:256 Epub 2014 July 22
    View PubMed
  56. 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 Epub 2013 June 22
    View PubMed
  57. Martinez-Abadias 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 Epub 2013 Mar 08
    View PubMed
  58. Hill CA, Martinez-Abadias 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 Epub 2013 Mar 12
    View PubMed
  59. 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 Jr, Jabs EW, Hunter DG, Grant PE, Engle EC. A novel syndrome caused by the E410K amino acid substitution in the neuronal beta-tubulin isotype 3. Brain. 2013 Feb; 136 (Pt 2):522-35 Epub 2013 Jan 31
    View PubMed
  60. 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. Epub 2011 Nov 10.
    View PubMed
  61. Martinez-Abadias 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 Epub 2012 Dec 05
    View PubMed
  62. 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 Epub 2012 Dec 12
    View PubMed
  63. 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 Epub 2013 Apr 04
    View PubMed
  64. Rhodes R, Baumrin SB, Blaser MJ, Earle WJ, Indyk D, Jabs EW, Moros DA, Richardson LD, Sacks HS. Public Health and Research The Human Microbiome: Ethical, Legal and Social Concerns. 2013; 208-240.
  65. Webb BD, Hoover-Fong JE, Jabs EW. Achondroplasia Clinical Genomics: Practical Applications in Adult Patient Care. 2013; 763-765.
  66. Manace-Brenman KP, Edelmann L, Jabs EW. Chromosomal Disorders in Adults Clinical Genomics: Practical Applications in Adult Patient Care. 2013; 816-821.
  67. Jabs EW, Lewanda AF. Craniosynostosis Emery & Rimoin's Principles and Practice of Medical Genetics, 6th Edition. 2013; 1-34.
  68. Zhao KP, Huang S, Wang H, Hetmanski JB, Zhang TX, Schwender H, Ye X, Chen Q, Jabs EW, Scott AF, Beaty TH. MAFs and haplotype frequencies for SNPs in ROR2 gene among parents of Han Chinese NSCL/P patients in China Chin J Public Health. 2013; 335-339.
  69. 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, Heuze 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 Epub 2012 Nov 18
    View PubMed
  70. 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 Epub 2012 Aug 12
    View PubMed
  71. 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 Epub 2012 July 05
    View PubMed
  72. 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 Epub 2012 July 05
    View PubMed
  73. 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 Epub 2012 May 24
    View PubMed
  74. 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; 122 (6):2153-64 Epub 2012 May 15
    View PubMed
  75. 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 Epub 2012 May 10
    View PubMed
  76. 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, FORGE Canada Consortium. 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 Epub 2012 Apr 26
    View PubMed
  77. 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. Epub 2012 Mar 14.
    View PubMed
  78. 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 Epub 2012 Jan 12
    View PubMed
  79. 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
    View PubMed
  80. 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 Epub 2012 Apr 13
    View PubMed
  81. 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/beta-catenin signaling via MAP kinase/LRP6 pathway and direct beta-catenin phosphorylation. PLoS One. 2012; 7 (4):e35826 Epub 2012 Apr 27
    View PubMed
  82. Zein MW, Lewanda AF, Traboulsi EI, Jabs EW. Ocular Manifestations of Syndromes with Craniofacial Abnormalities Genetic Disease of the Eye. 2012; 174-189.
  83. 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. Epub 2011 May 26.
    View PubMed
  84. 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 Epub 2011 June 07
    View PubMed
  85. Richardson S, Browne ML, Rasmussen SA, Druschel CM, Sun L, Jabs EW, Romitti PA, National Birth Defects Prevention Study. Associations between periconceptional alcohol consumption and craniosynostosis, omphalocele, and gastroschisis. Birth Defects Res A Clin Mol Teratol. 2011 Jul; 91 (7):623-30 Epub 2011 May 31
    View PubMed
  86. Martinez-Abadias N, Heuze 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 Epub 2011 Oct 28
    View PubMed
  87. Jabs EW. 2011 Clinical Delination of KID Syndrome, an Ectodermal Dysplasia NFED Research Report, NFED 30th Anniversary. 2011.
  88. 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.
    View PubMed
  89. Martinez-Abadias 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
    View PubMed
  90. 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 Epub 2010 July 23
    View PubMed
  91. 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 Epub 2010 Apr 18
    View PubMed
  92. 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, 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. Epub 2010 May 02.
    View PubMed
  93. 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. Epub 2010 Jan 20.
    View PubMed
  94. 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
    View PubMed
  95. 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 Feb 22; 10:22
    View PubMed
  96. 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 Epub 2009 Nov 13
    View PubMed
  97. 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 Epub 2009 July 01
    View PubMed
  98. 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 Epub 2009 Oct 27
    View PubMed
  99. 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.
    View PubMed
  100. 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 Epub 2009 May 15
    View PubMed
  101. 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 Epub 2009 July 10
    View PubMed
  102. 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 Epub 2009 June 30
    View PubMed
  103. 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
    View PubMed
  104. Sull JW, Liang KY, Hetmanski JB, Fallin MD, Ingersoll RG, Park J, Wu-Chou YH, Chen PK, Chong SS, Cheah 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 Eur J Hum Genet. 2009; 831-839.
  105. Dolack ME, Lee C, Ru Y, Margboub A, Richtsmeier JT, Jabs EW, Moazen M, Garzon-Alvardo DA, Kraft RH. Computational morphogenesis of embryonic bone development: Past, Present & Future Mechanobiology. 2009.
  106. 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
    View PubMed
  107. 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 Epub 2008 Apr 14
    View PubMed
  108. 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 Epub 2008 Feb 29
    View PubMed
  109. Gordillo M, Vega H, Jabs EW. ESC02 and Roberts Syndrome Molecular Basis of inforn Errors of Development, 2nd Edition. 2008; 1011-1019.
  110. Van Maldergem L, Siitonen HA, Jabs EW, Gordillo M. RECQL4 and Rothmund-Thomson, RAPADILINO, and Baller-Gerold Molecular Basis of Inborn Errors of Development, 2nd Edition. 2008; 1237-1245.
  111. 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 Epub 2007 Oct 11
    View PubMed
  112. Boyadjiev SA, International Craniosynostosis Consortium. Genetic analysis of non-syndromic craniosynostosis. Orthod Craniofac Res. 2007 Aug; 10 (3):129-37
    View PubMed
  113. 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
    View PubMed
  114. 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 Epub 2007 Jan 03
    View PubMed
  115. Lewanda AF, Jabs EW. Craniosynostosis Emery & Riomoin's Principles and Practice of Medical Genetics, 5th Edition. 2007; 3359-3379.
  116. 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 Epub 2006 Sept 05
    View PubMed
  117. 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 Epub 2006 June 09
    View PubMed
  118. Gordillo M, Vega H, Jabs EW. Roberts Syndrome Gene Reviews. 2006.
  119. 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 Epub 2006 Jan 11
    View PubMed
  120. 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
    View PubMed
  121. 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, Kestila M, Gillerot Y, Megarbane 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 Epub 2005 June 17
    View PubMed
  122. 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 Epub 2006 Jan 17
    View PubMed
  123. 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, Attie 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 Epub 2005 Apr 14
    View PubMed
  124. Park JW, Cai J, McIntosh I, Jabs EW, Fallin MD, Ingersoll R, Hetmanski JB, Vekemans M, Attie-Bitash T, Lovette M, Scott AF, Beaty TH. High throughput SNP and expressive analyses of candidate genes for non-syndromic oral clefts J Med Genet. 2006; 43:598-608.
  125. Lewanda AF, Boyadjiev SA, Jabs EW. Dysmorphology: Genetic Syndromes and Associations Oski's Pediatrics: Principles and Practice, 4th Edition. 2006; 2629-2670.
  126. Jabs EW, Knoppers BM, Van Dyke D, Weinblatt V, Toriello H, McGillivray B. ASHG Code of Ethics AM J Hum Genet. 2006; 1136-1137.
  127. Cai J, Jabs EW. A twisted hand: bHLH protein phosphorylation and dimerization regulate limb development. Bioessays. 2005 Nov; 27(11):1102-6.
    View PubMed
  128. 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 Epub 2005 June 23
    View PubMed
  129. Jehee FS, Johnson D, Alonso LG, Cavalcanti DP, de Sa 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
    View PubMed
  130. 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 Epub 2005 Apr 19
    View PubMed
  131. 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 Epub 2005 May 05
    View PubMed
  132. 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 Epub 2005 Apr 10
    View PubMed
  133. Huang N, Pandey AV, Agrawal V, Reardon W, Lapunzina PD, Mowat D, Jabs EW, Van Vliet G, Sack J, Fluck 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 Epub 2005 Mar 25
    View PubMed
  134. 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
    View PubMed
  135. 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 Epub 2005 Feb 09
    View PubMed
  136. 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
    View PubMed
  137. 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
    View PubMed
  138. Hewitt C, McCormick D, Linden G, Turk D, Stern I, Wallace I, Southern L, Zhang L, Howard R, Bullon P, Wong M, Widmer R, Gaffar KA, Awawdeh L, Briggs J, Yaghmai R, Jabs EW, Hoeger P, Bleck O, Rudiger SG, Petersilka G, Battino M, Brett P, Hattab F, Al-Hamed M, Sloan P, Toomes C, Dixon M, James J, Read AP, Thakker N. The role of cathepsin C in Papillon-Lefevre syndrome, prepubertal periodontitis, and aggressive periodontitis. Hum Mutat. 2004 Mar; 23 (3):222-8
    View PubMed
  139. Fluck CE, Tajima T, Pandey AV, Arlt W, Okuhara K, Verge CF, Jabs EW, Mendonca 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 Epub 2004 Feb 01
    View PubMed
  140. Glaser RL, Jabs EW. Dear old dad. Sci Aging Knowledge Environ. 2004 Jan 21; 2004(3):re1.
    View PubMed
  141. Jabs EW. TWIST and the Saethre-Chotzen Syndrome Molecular Basis of Inborn Errors of Development. 2004; 401-409.
  142. 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 Epub 2003 Sept 25
    View PubMed
  143. 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 Epub 2003 July 31
    View PubMed
  144. Splendore A, Jabs EW, Felix 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
    View PubMed
  145. 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 Epub 2003 Apr 03
    View PubMed
  146. 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
    View PubMed
  147. 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 Epub 2002 Nov 27
    View PubMed
  148. 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.
    View PubMed
  149. 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
    View PubMed
  150. 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
    View PubMed
  151. Richard G, Rouan F, Willoughby CE, Brown N, Chung P, Ryynanen 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 Epub 2002 Mar 22
    View PubMed
  152. 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
    View PubMed
  153. Jabs EW. Chapter 6: Genetic Etiologies of Craniosynostosis Understanding Craniofacial Anomalies: The Etiopathogenesis of Craniosynostoses and Facial Clefting. 2002; 125-146.
  154. Lewanda AF, Jabs EW. Craniosynostosis Principles and Practice of Medical Genetics, 4th Edition. 2002; 3673-3688.
  155. Chong SE, Cheah FSH, Jabs EW. Genes Implicated in Lip and Palate Development Cleft Lip and Palate: From Origin to Treatment. 2002; 25-39.
  156. 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
    View PubMed
  157. 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
    View PubMed
  158. 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
    View PubMed
  159. Okajima K, Paznekas WA, Burstyn T, Jabs EW. Polymorphisms in the Human SNAIL (SNAI1) gene. Mol Cell Probes. 2001 Feb; 15 (1):53-5
    View PubMed
  160. Schweitzer DN, Graham JM Jr, 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
    View PubMed
  161. 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
    View PubMed
  162. Jabs EW. Genetics of Mandibulofacial Dysostosis Craniofacial: Science and Surgical Technique. 2001.
  163. Fidler C, Nakayama M, Jabs EW, Cheng JF, Strickson A, Ohara O, Wainscoat JS, Boultwood J. Physican mapping of the MEGF1 gene, human homologue of the Drosophila tumour suppressor gene fat, to the critical region of the 5q-syndrome GeneScreen. 2001; 1:165-167.
  164. 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
    View PubMed
  165. 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
    View PubMed
  166. 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
    View PubMed
  167. McIntosh I, Bellus GA, Jab EW. The pleiotropic effects of fibroblast growth factor receptors in mammalian development. Cell Struct Funct. 2000 Apr; 25(2):85-96.
    View PubMed
  168. 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.
    View PubMed
  169. 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
    View PubMed
  170. 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
    View PubMed
  171. 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
    View PubMed
  172. 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
    View PubMed
  173. 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
    View PubMed
  174. 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
    View PubMed
  175. 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
    View PubMed
  176. 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
    View PubMed
  177. Boyadjiev SA, Jabs EW, LaBuda M, Jamal JE, Torbergsen T, Ptacek LJ 2nd, 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
    View PubMed
  178. 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
    View PubMed
  179. 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
    View PubMed
  180. 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.
    View PubMed
  181. 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
    View PubMed
  182. 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
    View PubMed
  183. 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
    View PubMed
  184. 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
    View PubMed
  185. 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
    View PubMed
  186. 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
    View PubMed
  187. Graham JM Jr, 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
    View PubMed
  188. Jabs EW. Toward understanding the pathogenesis of craniosynostosis through clinical and molecular correlates. Clin Genet. 1998 Feb; 53(2):79-86.
    View PubMed
  189. 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
    View PubMed
  190. 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
    View PubMed
  191. Boultwood J, Fidler C, Soularue P, Strickson AJ, Kostrzewa M, Jaju RJ, Cotter FE, Fairweather N, Monaco AP, Muller 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
    View PubMed
  192. 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
    View PubMed
  193. 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
    View PubMed
  194. 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
    View PubMed
  195. 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
    View PubMed
  196. Przylepa KA, Paznekas W, Zhang M, Golabi M, Bias W, Bamshad MJ, Carey JC, Hall BD, Stevenson R, Orlow S, Cohen MM Jr, Jabs EW. Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. Nat Genet. 1996 Aug; 13 (4):492-4
    View PubMed
  197. 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
    View PubMed
  198. Meyers GA, Day D, Goldberg R, Daentl DL, Przylepa KA, Abrams LJ, Graham JM Jr, 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
    View PubMed
  199. Mashkova TD, Tyumenva IG, Zinov'era OL, Romanova LY, Jabs EW. Centromeric-satellite euchromatin/heterochromatin boundard of human chromosome 21 Molecular Biology. 1996; 30:617-625.
  200. 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
    View PubMed
  201. 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
    View PubMed
  202. 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
    View PubMed
  203. Park WJ, Theda C, Maestri NE, Meyers GA, Fryburg JS, Dufresne C, Cohen MM Jr, Jabs EW. Analysis of phenotypic features and FGFR2 mutations in Apert syndrome. Am J Hum Genet. 1995 Aug; 57 (2):321-8
    View PubMed
  204. 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
    View PubMed
  205. 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
    View PubMed
  206. 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
    View PubMed
  207. 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
    View PubMed
  208. 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
    View PubMed
  209. 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
    View PubMed
  210. Li X, Lewanda AF, Eluma F, Jerald H, Choi H, Alozie I, Proukakis C, Talbot CC, Vander C, Bird LM, Jones MC, Cunningham M, Clarren SK, Pyeritz RE, Weissenbach J, Jackson CE, Jabs EW. Two craniosynostotic syndrome loci, Crouzon and Jackson-Weiss, map to chromosome 10q23-q26 Genomics. 1994; 22(2):418-24.
  211. 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
    View PubMed
  212. 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
    View PubMed
  213. 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
    View PubMed
  214. 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
    View PubMed
  215. 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
    View PubMed
  216. Lewanda AF, Cohen MM, Jackson CE, Taylor EW, Li X, Beloff M, Day D, Clarren SK, Ortiz R, Garcia C, Hauselman E, Figueroa A, Wulfsberg E, Wilson M, Warman ML, Padwa BL, Whiteman, Mulliken JB, Jabs EW. Genetic heterogeneity among craniosynostosis syndromes: mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p Genomics. 1994; 19(1):115-9.
  217. Lewand AF, Green ED, Weissenbach J, Jerald H, Taylor E, Summar ML, Phillips JA III, Cohen M, Feingold M, Mouradian W, Clarren SK, Jabs EW. Evidence that the Saethre-Chotzen syndrome locus lies between D7S664 and D7S507, by genetic analysis and detection of a microdeletion in a patient Am J Hum Genetic. 1994; 1195-1201. Epub 2024 Nov 04.
  218. Lewanda AF, Cohen MM Jr, Hood J, Morsey S, Walters M, Kennedy JL Jr, 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
    View PubMed
  219. Jabs EW, Muller U, Li X, Ma L, Luo W, Haworth IS, Klisak I, Sparkes R, Warman ML, Mulliken JB. 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
    View PubMed
  220. 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
    View PubMed
  221. Jabs EW, Li X, Lovett M, Yamaoka LH, Taylor E, Speer MC, Coss C, Cadle R, Hall B, Brown K. 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
    View PubMed
  222. Reid CS, McMorrow LE, McDonald-McGinn DM, Grace KJ, Ramos FJ, Zackai EH, Cohen MM Jr, Jabs EW. Saethre-Chotzen syndrome with familial translocation at chromosome 7p22. Am J Med Genet. 1993 Oct 1; 47 (5):637-9
    View PubMed
  223. 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
    View PubMed
  224. 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
    View PubMed
  225. 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
    View PubMed
  226. Bowcock AM, Gerken SC, Barnes RI, Shiang R, Jabs EW, Warren AC, Antonarakis S, Retief AE, Vergnaud G, Leppert M. The CEPH consortium linkage map of human chromosome 13. Genomics. 1993 May; 16 (2):486-96
    View PubMed
  227. Gregor P, Reeves RH, Jabs EW, Yang X, Dackowski W, Rochelle JM, Brown RH Jr, Haines JL, O'Hara BF, Uhl GR. 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
    View PubMed
  228. 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
    View PubMed
  229. 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
    View PubMed
  230. 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
    View PubMed
  231. 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
    View PubMed
  232. Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, Vega H, Gordillo M, Jabs EW. ESCO2 Spectrum Disorder Seattle (WA): University of Washington, Seattle. 1993.
    View PubMed
  233. Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, Katsanis SH, Jabs EW. Treacher Collins Syndrome Seattle (WA): University of Washington, Seattle. 1993.
    View PubMed
  234. Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, Webb BD, Manoli I, Jabs EW. STAC3 Disorder Seattle (WA): University of Washington, Seattle. 1993.
    View PubMed
  235. 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
    View PubMed
  236. 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
    View PubMed
  237. 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
    View PubMed
  238. 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
    View PubMed
  239. 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
    View PubMed
  240. 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
    View PubMed
  241. Xiao L, Celano P, Mank AR, Griffin C, Jabs EW, Hawkins AL, Casero RA Jr. 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
    View PubMed
  242. 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
    View PubMed
  243. 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
    View PubMed
  244. 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
    View PubMed
  245. 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
    View PubMed
  246. 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
    View PubMed
  247. 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.
    View PubMed
  248. 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.
    View PubMed
  249. 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
    View PubMed
  250. 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
    View PubMed
  251. Blanche 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
    View PubMed
  252. 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
    View PubMed
  253. 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.
    View PubMed
  254. 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
    View PubMed
  255. 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
    View PubMed
  256. 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
    View PubMed
  257. 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
    View PubMed
  258. 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
    View PubMed
  259. 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
    View PubMed
  260. 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
    View PubMed
  261. 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
    View PubMed
  262. 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
    View PubMed
  263. 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
    View PubMed
  264. 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.
    View PubMed
  265. 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
    View PubMed
  266. 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
    View PubMed
  267. 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
    View PubMed
  268. 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
    View PubMed
  269. 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
    View PubMed
  270. 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
    View PubMed
  271. Stamberg J, Jabs EW, Elias E. Terminal deletion(4)(q33) in a male infant. Clin Genet. 1982 Feb; 21 (2):125-9
    View PubMed
  272. Jabs EW, Leonard CO, Phillips JA. New features of the McKusick-Kaufman syndrome. Birth Defects Orig Artic Ser. 1982; 18 (3B):161-6
    View PubMed
PST-20554854