Articles with public access mandates - Ethylin Wang JabsLearn more
Not available anywhere: 3
Genetic basis of potential therapeutic strategies for craniosynostosis
H Melville, Y Wang, PJ Taub, EW Jabs
American journal of medical genetics Part A 152 (12), 3007-3015, 2010
Mandates: US National Institutes of Health
OTX2 mutations contribute to the otocephaly-dysgnathia complex
N Chassaing, S Sorrentino, EE Davis, D Martin-Coignard, A Iacovelli, ...
Journal of medical genetics 49 (6), 373-379, 2012
Mandates: US National Institutes of Health, National Institute of Health and Medical …
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 …
L Bu, Q Chen, H Wang, T Zhang, JB Hetmanski, H Schwender, M Parker, ...
Birth Defects Research Part A: Clinical and Molecular Teratology 103 (10 …, 2015
Mandates: US National Institutes of Health, National Natural Science Foundation of China
Available somewhere: 77
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
Mandates: US National Institutes of Health
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
Mandates: US National Institutes of Health, Canadian Institutes of Health Research
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype
WA Paznekas, B Karczeski, S Vermeer, RB Lowry, M Delatycki, ...
Human mutation 30 (5), 724-733, 2009
Mandates: US National Institutes of Health
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome
FP Bernier, O Caluseriu, S Ng, J Schwartzentruber, KJ Buckingham, ...
The American Journal of Human Genetics 90 (5), 925-933, 2012
Mandates: US National Institutes of Health, Canadian Institutes of Health Research …
Evidence for gene‐environment interaction in a genome wide study of nonsyndromic cleft palate
TH Beaty, I Ruczinski, JC Murray, ML Marazita, RG Munger, JB Hetmanski, ...
Genetic epidemiology 35 (6), 469-478, 2011
Mandates: US National Institutes of Health
Receptor tyrosine kinases activate canonical WNT/β-catenin signaling via MAP kinase/LRP6 pathway and direct β-catenin phosphorylation
P Krejci, A Aklian, M Kaucka, E Sevcikova, J Prochazkova, JK Masek, ...
PloS one 7 (4), e35826, 2012
Mandates: US National Institutes of Health
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9
CM Justice, G Yagnik, Y Kim, I Peter, EW Jabs, M Erazo, X Ye, ...
Nature genetics 44 (12), 1360-1364, 2012
Mandates: US National Institutes of Health
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3
S Chew, R Balasubramanian, WM Chan, PB Kang, C Andrews, BD Webb, ...
Brain 136 (2), 522-535, 2013
Mandates: US National Institutes of Health, Howard Hughes Medical Institute
Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet–Biedl Syndrome 9 (BBS9) deletion
J Reiner, L Pisani, W Qiao, R Singh, Y Yang, L Shi, WA Khan, R Sebra, ...
NPJ genomic medicine 3 (1), 1-5, 2018
Mandates: US National Institutes of Health
Evidence of gene–environment interaction for the IRF6 gene and maternal multivitamin supplementation in controlling the risk of cleft lip with/without cleft palate
T Wu, KY Liang, JB Hetmanski, I Ruczinski, MD Fallin, RG Ingersoll, ...
Human genetics 128 (4), 401-410, 2010
Mandates: US National Institutes of Health
Closing the gap: genetic and genomic continuum from syndromic to nonsyndromic craniosynostoses
Y Heuzé, G Holmes, I Peter, JT Richtsmeier, EW Jabs
Current genetic medicine reports 2 (3), 135-145, 2014
Mandates: US National Institutes of Health
Activation of p38 MAPK pathway in the skull abnormalities of Apert syndrome Fgfr2+ P253R mice
Y Wang, M Sun, VL Uhlhorn, X Zhou, I Peter, N Martinez-Abadias, CA Hill, ...
BMC developmental biology 10 (1), 1-20, 2010
Mandates: US National Institutes of Health
HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1−/− mice
BD Webb, S Shaaban, H Gaspar, LF Cunha, CR Schubert, K Hao, ...
The American Journal of Human Genetics 91 (1), 171-179, 2012
Mandates: Swiss National Science Foundation, US National Institutes of Health, Howard …
The ups and downs of mutation frequencies during aging can account for the Apert syndrome paternal age effect
SR Yoon, J Qin, RL Glaser, E Wang Jabs, NS Wexler, R Sokol, N Arnheim, ...
PLoS genetics 5 (7), e1000558, 2009
Mandates: US National Institutes of Health
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome
SA Di Gioia, S Connors, N Matsunami, J Cannavino, MF Rose, NM Gilette, ...
Nature communications 8 (1), 1-16, 2017
Mandates: Swiss National Science Foundation, US National Institutes of Health, Howard …
Reasons for participating and genetic information needs among racially and ethnically diverse biobank participants: a focus group study
SA Streicher, SC Sanderson, EW Jabs, M Diefenbach, M Smirnoff, I Peter, ...
Journal of community genetics 2 (3), 153-163, 2011
Mandates: US National Institutes of Health
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies
HG Kim, HT Kim, NT Leach, F Lan, R Ullmann, A Silahtaroglu, I Kurth, ...
The American Journal of Human Genetics 91 (1), 56-72, 2012
Mandates: US National Institutes of Health, German Research Foundation, Danish …
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