Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes

Author:

Curtis Sarah W.,Carlson Jenna C.,Beaty Terri H.,Murray Jeffrey C.,Weinberg Seth M.,Marazita Mary L.,Cotney Justin L.,Cutler David J.,Epstein Michael P.,Leslie Elizabeth J.ORCID

Funder

National Institute of Dental and Craniofacial Research

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference80 articles.

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2. Attanasio C, Nord AS, Zhu Y, Blow MJ, Li Z, Liberton DK, Morrison H, Plajzer-Frick I, Holt A, Hosseini R, Phouanenavong S, Akiyama JA, Shoukry M, Afzal V, Rubin EM, FitzPatrick DR, Ren B, Hallgrimsson B, Pennacchio LA, Visel A (2013) Fine tuning of craniofacial morphology by distant-acting enhancers. Science 342:1241006. https://doi.org/10.1126/science.1241006

3. Baines AC, Adams EJ, Zhang B, Ginsburg D (2013) Disruption of the Sec24d gene results in early embryonic lethality in the mouse. PLoS ONE 8:e61114. https://doi.org/10.1371/journal.pone.0061114

4. Beaty TH, Murray JC, Marazita ML, Munger RG, Ruczinski I, Hetmanski JB, Liang KY, Wu T, Murray T, Fallin MD, Redett RA, Raymond G, Schwender H, Jin SC, Cooper ME, Dunnwald M, Mansilla MA, Leslie E, Bullard S, Lidral AC, Moreno LM, Menezes R, Vieira AR, Petrin A, Wilcox AJ, Lie RT, Jabs EW, Wu-Chou YH, Chen PK, Wang H, Ye X, Huang S, Yeow V, Chong SS, Jee SH, Shi B, Christensen K, Melbye M, Doheny KF, Pugh EW, Ling H, Castilla EE, Czeizel AE, Ma L, Field LL, Brody L, Pangilinan F, Mills JL, Molloy AM, Kirke PN, Scott JM, Arcos-Burgos M, Scott AF (2010) A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. Nat Genet 42:525–529. https://doi.org/10.1038/ng.580

5. Bell JC, Raynes-Greenow C, Turner RM, Bower C, Nassar N, O’Leary CM (2014) Maternal alcohol consumption during pregnancy and the risk of orofacial clefts in infants: a systematic review and meta-analysis. Paediatr Perinat Epidemiol 28:322–332. https://doi.org/10.1111/ppe.12131

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