Ethylin Wang Jabs

Research.com Recognitions

• Member of the Association of American Physicians
• Member of the Association of American Physicians
• Member of the Association of American Physicians
• Member of the Association of American Physicians

Overview

Best Publications

• Exome sequencing identifies the cause of a Mendelian disorder

  Sarah B H Ng;Kati J. Buckingham;Choli Lee;Abigail W. Bigham

  2467
  Citations

• Human dopamine transporter gene (DAT1) maps to chromosome 5p15.3 and displays a VNTR

  David J. Vandenbergh;Antonio M. Persico;Anita L. Hawkins;Constance A. Griffin

  938
  Citations

• A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis

  Ethylin Wang Jabs;Ulrich Müller;Xiang Li;Liang Ma

  788
  Citations

• Mutations in TWIST , a basic helix–loop–helix transcription factor, in Saethre-Chotzen syndrome

  Timothy D. Howard;William A. Paznekas;Eric D. Green;Lydia C. Chiang

  762
  Citations

• Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.

  William A. Paznekas;Simeon A. Boyadjiev;Robert E. Shapiro;Otto Daniels

  712
  Citations

• A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4

  Terri H. Beaty;Jeffrey C. Murray;Mary L. Marazita;Ronald G. Munger

  661
  Citations

• Complete cDNA sequence of a human dioxin-inducible mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2.

  Thomas R. Sutter;Yong Ming Tang;Carrie L. Hayes;Yu Yuan P Wo

  654
  Citations

• Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2

  Ethylin Wang Jabs;Xiang Li;Alan F. Scott;Gregory Meyers

  563
  Citations

• Fibroblast growth factor receptor 3 ( FGFR3 ) transmembrane mutation in Crouzon syndrome with acanthosis nigricans

  Gregory A. Meyers;Seth J. Orlow;Ian R. Munro;Kelly A. Przylepa

  534
  Citations

• Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome

  Christa Flück;Toshihro Tajima;Amit Vikram Pandey;Wiebke Arlt

  504
  Citations

• Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in sperm

  A. J. Wyrobek;B. Eskenazi;S. Young;N. Arnheim

  494
  Citations

• Identification of novel susceptibility loci for inflammatory bowel disease on chromosomes 1p, 3q, and 4q: Evidence for epistasis between 1p and IBD1

  Judy H. Cho;Dan L. Nicolae;Leslee H. Gold;Carter T. Fields

  475
  Citations

• Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Keratitis-Ichthyosis-Deafness Syndrome

  Gabriele Richard;Fatima Rouan;Colin E. Willoughby;Nkecha Brown

  436
  Citations

• Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion

  Hugo Vega;Hugo Vega;Quinten Waisfisz;Miriam Gordillo;Miriam Gordillo;Norio Sakai

  432
  Citations

• Clinical spectrum of fibroblast growth factor receptor mutations.

  M. R. Passos-Bueno;W. R. Wilcox;E. W. Jabs;A. L. Sertie

  367
  Citations

• Diversity and Function of Mutations in P450 Oxidoreductase in Patients with Antley-Bixler Syndrome and Disordered Steroidogenesis

  Ningwu Huang;Amit Vikram Pandey;Vishal Agrawal;William Reardon

  349
  Citations

• Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype–phenotype correlation

  Elfride De Baere;Michael J. Dixon;Kent W. Small;Ethylin W. Jabs

  326
  Citations

• De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome.

  Michael Oldridge;Elaine H. Zackai;Donna M. McDonald-McGinn;Sachiko Iseki

  323
  Citations

• Analysis of phenotypic features and FGFR2 mutations in Apert syndrome

  Woo-Jin Park;C. Theda;N. E. Maestri;G. A. Meyers

  309
  Citations

• GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.

  William A. Paznekas;Barbara Karczeski;Sascha Vermeer;R. Brian Lowry

  288
  Citations