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Ethylin Wang Jabs
Ethylin Wang Jabs
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Title
Cited by
Cited by
Year
Exome sequencing identifies the cause of a mendelian disorder
SB Ng, KJ Buckingham, C Lee, AW Bigham, HK Tabor, KM Dent, CD Huff, ...
Nature genetics 42 (1), 30-35, 2010
24942010
Human dopamine transporter gene (DAT1) maps to chromosome 5p15. 3 and displays a VNTR
DJ Vandenbergh, AM Persico, AL Hawkins, CA Griffin, X Li, EW Jabs, ...
Genomics 14 (4), 1104-1106, 1992
9371992
A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis
EW Jabs, U Müller, X Li, L Ma, W Luo, IS Haworth, I Klisak, R Sparkes, ...
Cell 75 (3), 443-450, 1993
7921993
Mutations in TWIST, a basic helix–loop–helix transcription factor, in Saethre-Chotzen syndrome
TD Howard, WA Paznekas, ED Green, LC Chiang, N Ma, RIOD Luna, ...
Nature genetics 15 (1), 36-41, 1997
7591997
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia
WA Paznekas, SA Boyadjiev, RE Shapiro, O Daniels, B Wollnik, ...
The American Journal of Human Genetics 72 (2), 408-418, 2003
7142003
Erratum: A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4 (Nat. Genet.(2010) 42 (525-529))
TH Beaty, JC Murray, ML Marazita, RG Munger, IRJB Hetmanski, ...
Nature genetics 42 (8), 727, 2010
658*2010
A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4 (vol 42, pg 525, 2010)
TH Beaty, JC Murray, ML Marazita, RG Munger, IRJB Hetmanski, ...
Nature Genetics 42 (8), 727-727, 2010
658*2010
A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4
TH Beaty, JC Murray, ML Marazita, RG Munger, I Ruczinski, JB Hetmanski, ...
Nature genetics 42 (6), 525-529, 2010
6542010
Complete cDNA sequence of a human dioxin-inducible mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2.
TR Sutter, YM Tang, CL Hayes, YYP Wo, EW Jabs, X Li, H Yin, CW Cody, ...
Journal of Biological Chemistry 269 (18), 13092-13099, 1994
6541994
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2
EW Jabs, X Li, AF Scott, G Meyers, W Chen, M Eccles, J Mao, LR Charnas, ...
Nature genetics 8 (3), 275-279, 1994
5651994
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome
CE Flück, T Tajima, AV Pandey, W Arlt, K Okuhara, CF Verge, EW Jabs, ...
Nature genetics 36 (3), 228-230, 2004
5092004
Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in sperm
AJ Wyrobek, B Eskenazi, S Young, N Arnheim, I Tiemann-Boege, ...
Proceedings of the National Academy of Sciences 103 (25), 9601-9606, 2006
5032006
Identification of novel susceptibility loci for inflammatory bowel disease on chromosomes 1p, 3q, and 4q: Evidence for epistasis between 1p and IBD1
JH Cho, DL Nicolae, LH Gold, CT Fields, MC LaBuda, PM Rohal, ...
Proceedings of the National Academy of Sciences 95 (13), 7502-7507, 1998
4801998
Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans
GA Meyers, SJ Orlow, IR Munro, KA Przylepa, EW Jabs
Nature genetics 11 (4), 462-464, 1995
4661995
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome
G Richard, F Rouan, CE Willoughby, N Brown, P Chung, M Ryynänen, ...
The American Journal of Human Genetics 70 (5), 1341-1348, 2002
4372002
Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion
H Vega, Q Waisfisz, M Gordillo, N Sakai, I Yanagihara, M Yamada, ...
Nature genetics 37 (5), 468-470, 2005
4202005
Clinical spectrum of fibroblast growth factor receptor mutations
MR Passos‐Bueno, WR Wilcox, EW Jabs, AL Sertie, LG Alonso, H Kitoh
Human mutation 14 (2), 115-125, 1999
3651999
Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis
N Huang, AV Pandey, V Agrawal, W Reardon, PD Lapunzina, D Mowat, ...
The American Journal of Human Genetics 76 (5), 729-749, 2005
3462005
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype–phenotype correlation
E De Baere, MJ Dixon, KW Small, EW Jabs, BP Leroy, K Devriendt, ...
Human molecular genetics 10 (15), 1591-1600, 2001
3122001
Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.
WJ Park, C Theda, NE Maestri, GA Meyers, JS Fryburg, C Dufresne, ...
American journal of human genetics 57 (2), 321, 1995
3111995
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