Jabs, Ethylin Wang

Exome sequencing identifies the cause of a mendelian disorder

Ng, S. B., Buckingham, K. J., Lee, C., Bigham, A. W., Tabor, H. K., Dent, K. M., Huff, C. D., Shannon, P. T., Jabs, E. W., Nickerson, D. A., et al. (2010) · Nature Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 1,957

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

Flück, C. E., Tajima, T., Pandey, A. V., Arlt, W., Okuhara, K., Verge, C. F., Jabs, E. W., Mendonça, B. B., Fujieda, K., & Miller, W. L. (2004) · Nature Genetics

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 509

Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis

Huang, N., Pandey, A. V., Agrawal, V., Reardon, W., Lapunzina, P. D., Mowat, D., Jabs, E. W., Vliet, G. V., Sack, J., Flück, C. E., et al. (2005) · The American Journal of Human Genetics

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 336

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9

Justice, C. M., Yagnik, G., Kim, Y., Peter, I., Jabs, E. W., Erazo, M., Ye, X., Ainehsazan, E., Shi, L., Cunningham, M. L., et al. (2012) · Nature Genetics

Craniofacial Disorders and TreatmentsGenomics and Rare Diseases

Cited by 140

Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia

Kelley, R. I., Kratz, L. E., Glaser, R. L., Netzloff, M. L., Miller Wolf, L., & Jabs, E. W. (2002) · American Journal of Medical Genetics

Sexual Differentiation and DisordersCraniofacial Disorders and Treatments

Cited by 95

Genetic and Environmental Risk Factors for Sagittal Craniosynostosis

Zeiger, J. S., Beaty, T. H., Hetmanski, J. B., Wang, H., Scott, A. F., Kasch, L., Raymond, G., Jabs, E. W., & VanderKolk, C. (2002) · Journal of Craniofacial Surgery

Craniofacial Disorders and TreatmentsPectus Deformity Diagnosis and Treatment

Cited by 66

Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis

Ye, X., Guilmatre, A., Reva, B., Peter, I., Heuzé, Y., Richtsmeier, J. T., Fox, D. J., Goedken, R. J., Jabs, E. W., & Romitti, P. A. (2016) · Plastic and Reconstructive Surgery

Craniofacial Disorders and Treatmentsdental development and anomalies

Cited by 33

Associations Between Maternal Periconceptional Alcohol Consumption and Risk of Craniosynostosis Among Offspring, National Birth Defects Prevention Study, 1997–2011

Fisher, S. C., Romitti, P. A., Tracy, M., Howley, M. M., Jabs, E. W., Browne, M. L., & Study, T. N. B. D. P. (2024) · Birth Defects Research

Craniofacial Disorders and TreatmentsPrenatal Substance Exposure Effects

Cited by 2