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Items: 1 to 20 of 33

1.

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.

Genet Epidemiol. 2019 Sep;43(6):704-716. doi: 10.1002/gepi.22214. Epub 2019 Jun 6.

PMID:
31172578
2.

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.

Am J Med Genet A. 2019 Mar;179(3):467-474. doi: 10.1002/ajmg.a.61002. Epub 2018 Dec 24.

PMID:
30582786
3.

Genome-wide interaction studies identify sex-specific risk alleles for nonsyndromic orofacial clefts.

Carlson JC, Nidey NL, Butali A, Buxo CJ, Christensen K, Deleyiannis FW, Hecht JT, Field LL, Moreno-Uribe LM, Orioli IM, Poletta FA, Padilla C, Vieira AR, Weinberg SM, Wehby GL, Feingold E, Murray JC, Marazita ML, Leslie EJ.

Genet Epidemiol. 2018 Oct;42(7):664-672. doi: 10.1002/gepi.22158. Epub 2018 Sep 11.

PMID:
30277614
4.

GWAS reveals loci associated with velopharyngeal dysfunction.

Chernus J, Roosenboom J, Ford M, Lee MK, Emanuele B, Anderton J, Hecht JT, Padilla C, Deleyiannis FWB, Buxo CJ, Feingold E, Leslie EJ, Shaffer JR, Weinberg SM, Marazita ML.

Sci Rep. 2018 May 31;8(1):8470. doi: 10.1038/s41598-018-26880-w.

5.

Rare and Common Variants Conferring Risk of Tooth Agenesis.

Jonsson L, Magnusson TE, Thordarson A, Jonsson T, Geller F, Feenstra B, Melbye M, Nohr EA, Vucic S, Dhamo B, Rivadeneira F, Ongkosuwito EM, Wolvius EB, Leslie EJ, Marazita ML, Howe BJ, Moreno Uribe LM, Alonso I, Santos M, Pinho T, Jonsson R, Audolfsson G, Gudmundsson L, Nawaz MS, Olafsson S, Gustafsson O, Ingason A, Unnsteinsdottir U, Bjornsdottir G, Walters GB, Zervas M, Oddsson A, Gudbjartsson DF, Steinberg S, Stefansson H, Stefansson K.

J Dent Res. 2018 May;97(5):515-522. doi: 10.1177/0022034517750109. Epub 2018 Jan 24.

6.

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.

Genet Epidemiol. 2017 Dec;41(8):887-897. doi: 10.1002/gepi.22090. Epub 2017 Nov 10.

7.

Testing the face shape hypothesis in twins discordant for nonsyndromic orofacial clefting.

Roosenboom J, Indencleef K, Hens G, Peeters H, Christensen K, Marazita ML, Claes P, Leslie EJ, Weinberg SM.

Am J Med Genet A. 2017 Nov;173(11):2886-2892. doi: 10.1002/ajmg.a.38471. Epub 2017 Sep 8.

8.

Identifying Genetic Sources of Phenotypic Heterogeneity in Orofacial Clefts by Targeted Sequencing.

Carlson JC, Taub MA, Feingold E, Beaty TH, Murray JC, Marazita ML, Leslie EJ.

Birth Defects Res. 2017 Jul 17;109(13):1030-1038. doi: 10.1002/bdr2.23605.

9.

Sonic hedgehog regulation of Foxf2 promotes cranial neural crest mesenchyme proliferation and is disrupted in cleft lip morphogenesis.

Everson JL, Fink DM, Yoon JW, Leslie EJ, Kietzman HW, Ansen-Wilson LJ, Chung HM, Walterhouse DO, Marazita ML, Lipinski RJ.

Development. 2017 Jun 1;144(11):2082-2091. doi: 10.1242/dev.149930. Epub 2017 May 15.

10.

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.

Am J Med Genet A. 2017 Jun;173(6):1531-1538. doi: 10.1002/ajmg.a.38210. Epub 2017 Apr 19.

11.

Identification of common non-coding variants at 1p22 that are functional for non-syndromic orofacial clefting.

Liu H, Leslie EJ, Carlson JC, Beaty TH, Marazita ML, Lidral AC, Cornell RA.

Nat Commun. 2017 Mar 13;8:14759. doi: 10.1038/ncomms14759.

12.

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.

Hum Genet. 2017 Mar;136(3):275-286. doi: 10.1007/s00439-016-1754-7. Epub 2017 Jan 4.

13.

Evidence for SNP-SNP interaction identified through targeted sequencing of cleft case-parent trios.

Xiao Y, Taub MA, Ruczinski I, Begum F, Hetmanski JB, Schwender H, Leslie EJ, Koboldt DC, Murray JC, Marazita ML, Beaty TH.

Genet Epidemiol. 2017 Apr;41(3):244-250. doi: 10.1002/gepi.22023. Epub 2016 Dec 26.

14.

Genetic factors influencing risk to orofacial clefts: today's challenges and tomorrow's opportunities.

Beaty TH, Marazita ML, Leslie EJ.

F1000Res. 2016 Nov 30;5:2800. eCollection 2016. Review.

15.

Hypertelorism and Orofacial Clefting Revisited: An Anthropometric Investigation.

Weinberg SM, Leslie EJ, Hecht JT, Wehby GL, Deleyiannis FWB, Moreno LM, Christensen K, Marazita ML.

Cleft Palate Craniofac J. 2017 Nov;54(6):631-638. doi: 10.1597/15-256. Epub 2016 Aug 9.

16.

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.

Hum Mol Genet. 2016 Jul 1;25(13):2862-2872. Epub 2016 Mar 30.

17.

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.

Am J Hum Genet. 2016 Apr 7;98(4):744-54. doi: 10.1016/j.ajhg.2016.02.014. Epub 2016 Mar 24.

18.

Exploring Subclinical Phenotypic Features in Twin Pairs Discordant for Cleft Lip and Palate.

Leslie EJ, Carlson JC, Cooper ME, Christensen K, Weinberg SM, Marazita ML.

Cleft Palate Craniofac J. 2017 Jan;54(1):90-93. doi: 10.1597/15-190. Epub 2016 Feb 16.

19.

Irf6 directly regulates Klf17 in zebrafish periderm and Klf4 in murine oral epithelium, and dominant-negative KLF4 variants are present in patients with cleft lip and palate.

Liu H, Leslie EJ, Jia Z, Smith T, Eshete M, Butali A, Dunnwald M, Murray J, Cornell RA.

Hum Mol Genet. 2016 Feb 15;25(4):766-76. doi: 10.1093/hmg/ddv614. Epub 2015 Dec 21.

20.

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.

Clin Genet. 2016 Jul;90(1):28-34. doi: 10.1111/cge.12675. Epub 2015 Oct 1.

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