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Ethylin W. Jabs, M.D.

  1. Clinical Cytogeneticist
  2. Clinical Molecular Geneticist
  3. Medical Geneticist
  4. Pediatrician
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Publicaciones

  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
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  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)
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  11. Willie D, Holmes G, Jabs EW, Wu M. Cleft Palate in Apert Syndrome. J Dev Biol. 2022 Aug 11; 10 (3)
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  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
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  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
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  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
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  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
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  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.
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  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
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  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
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  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
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  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
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  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
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  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
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  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).
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  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)
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  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
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  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
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  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.
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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.
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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.
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  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
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  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
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  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
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  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
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  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
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  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
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  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.
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  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
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  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
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  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
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  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
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  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
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  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
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  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.
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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.
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  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.
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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.
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  188. 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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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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.
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  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.
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  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.
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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.
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  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.
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  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
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  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
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  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
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  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
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  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.
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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
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  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.
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  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
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  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
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  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
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  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
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  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
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  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
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  271. 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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  272. 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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