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Page 1
IRF6 mutation screening in non-syndromic orofacial clefting: analysis of 1521 families.
Leslie EJ, Koboldt DC, Kang CJ, Ma L, Hecht JT, Wehby GL, Christensen K, Czeizel AE, Deleyiannis FW, Fulton RS, Wilson RK, Beaty TH, Schutte BC, Murray JC, Marazita ML. Leslie EJ, et al. Among authors: hecht jt. Clin Genet. 2016 Jul;90(1):28-34. doi: 10.1111/cge.12675. Epub 2015 Oct 1. Clin Genet. 2016. PMID: 26346622 Free PMC article.
A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3.
Leslie EJ, Liu H, Carlson JC, Shaffer JR, Feingold E, Wehby G, Laurie CA, Jain D, Laurie CC, Doheny KF, McHenry T, Resick J, Sanchez C, Jacobs J, Emanuele B, Vieira AR, Neiswanger K, Standley J, Czeizel AE, Deleyiannis F, Christensen K, Munger RG, Lie RT, Wilcox A, Romitti PA, Field LL, Padilla CD, Cutiongco-de la Paz EM, Lidral AC, Valencia-Ramirez LC, Lopez-Palacio AM, Valencia DR, Arcos-Burgos M, Castilla EE, Mereb JC, Poletta FA, Orioli IM, Carvalho FM, Hecht JT, Blanton SH, Buxó CJ, Butali A, Mossey PA, Adeyemo WL, James O, Braimah RO, Aregbesola BS, Eshete MA, Deribew M, Koruyucu M, Seymen F, Ma L, de Salamanca JE, Weinberg SM, Moreno L, Cornell RA, Murray JC, Marazita ML. Leslie EJ, et al. Among authors: hecht jt. Am J Hum Genet. 2016 Apr 7;98(4):744-54. doi: 10.1016/j.ajhg.2016.02.014. Epub 2016 Mar 24. Am J Hum Genet. 2016. PMID: 27018472 Free PMC article.
A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13.
Leslie EJ, Carlson JC, Shaffer JR, Feingold E, Wehby G, Laurie CA, Jain D, Laurie CC, Doheny KF, McHenry T, Resick J, Sanchez C, Jacobs J, Emanuele B, Vieira AR, Neiswanger K, Lidral AC, Valencia-Ramirez LC, Lopez-Palacio AM, Valencia DR, Arcos-Burgos M, Czeizel AE, Field LL, Padilla CD, Cutiongco-de la Paz EM, Deleyiannis F, Christensen K, Munger RG, Lie RT, Wilcox A, Romitti PA, Castilla EE, Mereb JC, Poletta FA, Orioli IM, Carvalho FM, Hecht JT, Blanton SH, Buxó CJ, Butali A, Mossey PA, Adeyemo WL, James O, Braimah RO, Aregbesola BS, Eshete MA, Abate F, Koruyucu M, Seymen F, Ma L, de Salamanca JE, Weinberg SM, Moreno L, Murray JC, Marazita ML. Leslie EJ, et al. Among authors: hecht jt. Hum Mol Genet. 2016 Jul 1;25(13):2862-2872. doi: 10.1093/hmg/ddw104. Epub 2016 Mar 30. Hum Mol Genet. 2016. PMID: 27033726 Free PMC article.
Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate.
Leslie EJ, Carlson JC, Shaffer JR, Butali A, Buxó CJ, Castilla EE, Christensen K, Deleyiannis FW, Leigh Field L, Hecht JT, Moreno L, Orioli IM, Padilla C, Vieira AR, Wehby GL, Feingold E, Weinberg SM, Murray JC, Beaty TH, Marazita ML. Leslie EJ, et al. Among authors: hecht jt. Hum Genet. 2017 Mar;136(3):275-286. doi: 10.1007/s00439-016-1754-7. Epub 2017 Jan 4. Hum Genet. 2017. PMID: 28054174 Free PMC article.
Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate.
Leslie EJ, Carlson JC, Shaffer JR, Buxó CJ, Castilla EE, Christensen K, Deleyiannis FWB, Field LL, Hecht JT, Moreno L, Orioli IM, Padilla C, Vieira AR, Wehby GL, Feingold E, Weinberg SM, Murray JC, Marazita ML. Leslie EJ, et al. Among authors: hecht jt. Am J Med Genet A. 2017 Jun;173(6):1531-1538. doi: 10.1002/ajmg.a.38210. Epub 2017 Apr 19. Am J Med Genet A. 2017. PMID: 28425186 Free PMC article.
Identification of 16q21 as a modifier of nonsyndromic orofacial cleft phenotypes.
Carlson JC, Standley J, Petrin A, Shaffer JR, Butali A, Buxó CJ, Castilla E, Christensen K, Deleyiannis FW, Hecht JT, Field LL, Garidkhuu A, Moreno Uribe LM, Nagato N, Orioli IM, Padilla C, Poletta F, Suzuki S, Vieira AR, Wehby GL, Weinberg SM, Beaty TH, Feingold E, Murray JC, Marazita ML, Leslie EJ. Carlson JC, et al. Among authors: hecht jt. Genet Epidemiol. 2017 Dec;41(8):887-897. doi: 10.1002/gepi.22090. Epub 2017 Nov 10. Genet Epidemiol. 2017. PMID: 29124805 Free PMC article.
Soft tissue nasal asymmetry as an indicator of orofacial cleft predisposition.
Zhang C, Miller SF, Roosenboom J, Wehby GL, Moreno Uribe LM, Hecht JT, Deleyiannis FWB, Christensen K, Marazita ML, Weinberg SM. Zhang C, et al. Among authors: hecht jt. Am J Med Genet A. 2018 Jun;176(6):1296-1303. doi: 10.1002/ajmg.a.38688. Epub 2018 Apr 16. Am J Med Genet A. 2018. PMID: 29663709 Free PMC article.
Association of low-frequency genetic variants in regulatory regions with nonsyndromic orofacial clefts.
Shaffer JR, LeClair J, Carlson JC, Feingold E, Buxó CJ, Christensen K, Deleyiannis FWB, Field LL, Hecht JT, Moreno L, Orioli IM, Padilla C, Vieira AR, Wehby GL, Murray JC, Weinberg SM, Marazita ML, Leslie EJ. Shaffer JR, et al. Among authors: hecht jt. Am J Med Genet A. 2019 Mar;179(3):467-474. doi: 10.1002/ajmg.a.61002. Epub 2018 Dec 24. Am J Med Genet A. 2019. PMID: 30582786 Free PMC article.
A systematic genetic analysis and visualization of phenotypic heterogeneity among orofacial cleft GWAS signals.
Carlson JC, Anand D, Butali A, Buxo CJ, Christensen K, Deleyiannis F, Hecht JT, Moreno LM, Orioli IM, Padilla C, Shaffer JR, Vieira AR, Wehby GL, Weinberg SM, Murray JC, Beaty TH, Saadi I, Lachke SA, Marazita ML, Feingold E, Leslie EJ. Carlson JC, et al. Among authors: hecht jt. Genet Epidemiol. 2019 Sep;43(6):704-716. doi: 10.1002/gepi.22214. Epub 2019 Jun 6. Genet Epidemiol. 2019. PMID: 31172578 Free PMC article.
Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21.
Mukhopadhyay N, Bishop M, Mortillo M, Chopra P, Hetmanski JB, Taub MA, Moreno LM, Valencia-Ramirez LC, Restrepo C, Wehby GL, Hecht JT, Deleyiannis F, Butali A, Weinberg SM, Beaty TH, Murray JC, Leslie EJ, Feingold E, Marazita ML. Mukhopadhyay N, et al. Among authors: hecht jt. Hum Genet. 2020 Feb;139(2):215-226. doi: 10.1007/s00439-019-02099-1. Epub 2019 Dec 17. Hum Genet. 2020. PMID: 31848685 Free PMC article.
275 results