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Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing.
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. Scott AF, et al. Among authors: jabs ew. JAMA Ophthalmol. 2014 Oct;132(10):1215-20. doi: 10.1001/jamaophthalmol.2014.1731. JAMA Ophthalmol. 2014. PMID: 24993872
Genetic and environmental risk factors for sagittal craniosynostosis.
Zeiger JS, Beaty TH, Hetmanski JB, Wang H, Scott AF, Kasch L, Raymond G, Jabs EW, VanderKolk C. Zeiger JS, et al. Among authors: jabs ew. J Craniofac Surg. 2002 Sep;13(5):602-6. doi: 10.1097/00001665-200209000-00002. J Craniofac Surg. 2002. PMID: 12218784
Physical map of the chromosome 6q22 region containing the oculodentodigital dysplasia locus: analysis of thirteen candidate genes and identification of novel ESTs and DNA polymorphisms.
Boyadjiev SA, Chowdry AB, Shapiro RE, Paznekas WA, Wandstrat AE, Choi JW, Kasch L, Zhang G, Wollnik B, Burgess CE, Schalling M, Lovett M, Jabs EW. Boyadjiev SA, et al. Among authors: jabs ew. Cytogenet Genome Res. 2002;98(1):29-37. doi: 10.1159/000068535. Cytogenet Genome Res. 2002. PMID: 12584438
Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations.
Beaty TH, Hetmanski JB, Fallin MD, Park JW, Sull JW, McIntosh I, Liang KY, Vanderkolk CA, Redett RJ, Boyadjiev SA, Jabs EW, Chong SS, Cheah FS, Wu-Chou YH, Chen PK, Chiu YF, Yeow V, Ng IS, Cheng J, Huang S, Ye X, Wang H, Ingersoll R, Scott AF. Beaty TH, et al. Among authors: jabs ew. Hum Genet. 2006 Nov;120(4):501-18. doi: 10.1007/s00439-006-0235-9. Epub 2006 Sep 5. Hum Genet. 2006. PMID: 16953426
Differential parental transmission of markers in RUNX2 among cleft case-parent trios from four populations.
Sull JW, Liang KY, Hetmanski JB, Fallin MD, Ingersoll RG, Park J, Wu-Chou YH, Chen PK, Chong SS, Cheah F, Yeow V, Park BY, Jee SH, Jabs EW, Redett R, Jung E, Ruczinski I, Scott AF, Beaty TH. Sull JW, et al. Among authors: jabs ew. Genet Epidemiol. 2008 Sep;32(6):505-12. doi: 10.1002/gepi.20323. Genet Epidemiol. 2008. PMID: 18357615 Free PMC article.
257 results