Recent Publications

Carlson JC, Shaffer JR, Deleyiannis F, Hecht JT, Wehby GL, Christensen K, Feingold E, Weinberg SM, Marazita ML, Leslie EJ. Genome-wide Interaction Study Implicates VGLL2 and Alcohol Exposure and PRL and Smoking in Orofacial Cleft Risk. Front Cell Dev Biol. 2022 Feb 10;10:621261.

Mukhopadhyay N, Feingold E, Moreno-Uribe L, Wehby G, Valencia-Ramirez LC, Restrepo Muñeton CP, Padilla C, Deleyiannis F, Christensen K, Poletta FA, Orioli IM, Hecht JT, Buxó CJ, Butali A, Adeyemo WL, Vieira AR, Shaffer JR, Murray JC, Weinberg SM, Leslie EJ, Marazita ML. Genome-wide association study of multiethnic nonsyndromic orofacial cleft families identifies novel loci specific to family and phenotypic subtypes. Genet Epidemiol. 2022 Feb 22. doi: 10.1002/gepi.22447.

Welzenbach J, Hammond NL, Nikolić M, Thieme F, Ishorst N, Leslie EJ, Weinberg SM, Beaty TH, Marazita ML, Mangold E, Knapp M, Cotney J, Rada-Iglesias A, Dixon MJ, Ludwig KU. Integrative approaches generate insights into the architecture of non-syndromic cleft lip with or without cleft palate. HGG Adv. 2021 Jun 8;2(3):100038.

Leslie EJ. Genetic models and approaches to study orofacial clefts. Oral Dis. 2021 Dec 18. doi: 10.1111/odi.14109.

Ray D, Venkataraghavan S, Zhang W, Leslie EJ, Hetmanski JB, Weinberg SM, Murray JC, Marazita ML, Ruczinski I, Taub MA, Beaty TH. Pleiotropy method reveals genetic overlap between orofacial clefts at multiple novel loci from GWAS of multi-ethnic trios. PLoS Genet. 2021 Jul 9;17(7):e1009584.

Curtis SW, Chang D, Sun MR, Epstein MP, Murray JC, Feingold E, Beaty TH, Weinberg SM, Marazita ML, Lipinski RJ, Carlson JC, Leslie EJ. FAT4 identified as a potential modifier of orofacial cleft laterality. Genet Epidemiol. 2021 Oct;45(7):721-735.

Carlock G, Manning K, Leslie EJ. Feasibility of Social Media Recruitment for Orofacial Cleft Genetic Research. Cleft Palate Craniofac J. 2021 Jun 14:10556656211024484. doi: 10.1177/10556656211024484.

Mukhopadhyay N, Feingold E, Moreno-Uribe L, Wehby G, Valencia-Ramirez LC, Muñeton CPR, Padilla C, Deleyiannis F, Christensen K, Poletta FA, Orioli IM, Hecht JT, Buxó CJ, Butali A, Adeyemo WL, Vieira AR, Shaffer JR, Murray JC, Weinberg SM, Leslie EJ, Marazita ML. Genome-Wide Association Study of Non-syndromic Orofacial Clefts in a Multiethnic Sample of Families and Controls Identifies Novel Regions. Front Cell Dev Biol. 2021 Apr 9;9:621482.

Curtis SW, Chang D, Lee MK, Shaffer JR, Indencleef K, Epstein MP, Cutler DJ, Murray JC, Feingold E, Beaty TH, Claes P, Weinberg SM, Marazita ML, Carlson JC, Leslie EJ. The PAX1 locus at 20p11 is a potential genetic modifier for bilateral cleft lip. HGG Adv. 2021 Apr 8;2(2):100025.

Leslie EJ. Embracing human genetics: a primer for developmental biologists. Development. 2020 Jul 2;147(21):dev191114.

Bishop MR, Diaz Perez KK, Sun M, Ho S, Chopra P, Mukhopadhyay N, Hetmanski JB, Taub MA, Moreno-Uribe LM, Valencia-Ramirez LC, Restrepo Muneton CP, Wehby G, Hecht JT, Deleyiannis F, Weinberg SM, Wu-Chuo YH, Chen PK, Brand H, Epstein MP, Ruczinski I, Murray JC, Beaty TH, Feingold E, Lipinski RJ, Cutler DJ, Marazita ML, Leslie EJ. Genome-wide enrichment of de novo coding mutations in orofacial cleft trios. American Journal of Human Genetics. 2020 Jul 2;107(1):124-136.

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. Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21. Hum Genet. 2020 Feb;139(2):215-226.

Solis-Lemus CR, Fischer ST, Todor A, Liu C, Leslie EJ, Cutler DJ, Ghosh D, Epstein MP. Leveraging Family History in Case-Control Analyses of Rare Variation. Genetics. 2020 Feb;214(2):295-303.

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. A systematic genetic analysis and visualization of phenotypic heterogeneity among orofacial cleft GWAS signals. Genet Epidemiol. 2019 Jun 6.

Kousa YA, Zhu H, Fakhouri WD, Lei Y, Kinoshita A, Roushangar RR, Patel NK, Agopian AJ, Yang W, Leslie EJ, Busch TD, Mansour TA, Li X, Smith AL, Li EB, Sharma DB, Williams TJ, Chai Y, Amendt BA, Liao EC, Mitchell LE, Bassuk AG, Gregory S, Ashley-Koch A, Shaw GM, Finnell RH, Schutte BC. The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation. Hum Mol Genet. 2019 Jan 25.

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. Association of low-frequency genetic variants in regulatory regions with nonsyndromic orofacial clefts. Am J Med Genet A. 2019 Mar;179(3):467-474.

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. Genome-wide interaction studies identify sex-specific risk alleles for nonsyndromic orofacial clefts. Genet Epidemiol. 2018 Oct;42(7):664-672.

Fu JM, Leslie EJ, Scott AF, Murray JC, Marazita ML, Beaty TH, Scharpf RB, Ruczinski I. Detection of de novo copy number deletions from targeted sequencing of trios. Bioinformatics. 2018 Aug 2. doi: 10.1093/bioinformatics/bty677.

Weinberg SM, Cornell R, Leslie EJ. Craniofacial genetics: Where have we been and where are we going? PLoS Genet. 2018 Jun 21;14(6):e1007438. doi: 10.1371/journal.pgen.1007438. eCollection 2018 Jun.

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. GWAS reveals loci associated with velopharyngeal dysfunction. Sci Rep. 2018 May 31;8(1):8470. doi: 10.1038/s41598-018-26880-w.

Claes P, Roosenboom J, White JD, Swigut T, Sero D, Li J, Lee MK, Zaidi A, Mattern BC, Liebowitz C, Pearson L, González T, Leslie EJ, Carlson JC, Orlova E, Suetens P, Vandermeulen D, Feingold E, Marazita ML, Shaffer JR, Wysocka J, Shriver MD, Weinberg SM. Genome-wide mapping of global-to-local genetic effects on human facial shape. Nat Genet. 2018 Mar;50(3):414-423.

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. Rare and Common Variants Conferring Risk of Tooth Agenesis. J Dent Res. 2018 Jan 1:22034517750109.

Shaffer JR, Li J, Lee MK, Roosenboom J, Orlova E, Adhikari K; 23andMe Research Team, Gallo C, Poletti G, Schuler-Faccini L, Bortolini MC, Canizales-Quinteros S, Rothhammer F, Bedoya G, González-José R, Pfeffer PE, Wollenschlaeger CA, Hecht JT, Wehby GL, Moreno LM, Ding A, Jin L, Yang Y, Carlson JC, Leslie EJ, Feingold E, Marazita ML, Hinds DA, Cox TC, Wang S, Ruiz-Linares A, Weinberg SM. Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment. Am J Hum Genet. 2017 Dec 7;101(6):913-924.

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. Identification of 16q21 as a modifier of nonsyndromic orofacial cleft phenotypes. Genet Epidemiol. 2017 Dec;41(8):887-897.

Roosenboom J, Indencleef K, Hens G, Peeters H, Christensen K, Marazita ML, Claes P, Leslie EJ, Weinberg SM. Testing the face shape hypothesis in twins discordant for nonsyndromic orofacial clefting. Am J Med Genet A. 2017 Sep 8.

Carlson JC, Taub MA, Feingold E, Beaty TH, Murray JC, Marazita ML, Leslie EJ. Identifying Genetic Sources of Phenotypic Heterogeneity in Orofacial Clefts by Targeted Sequencing. Birth Defects Res. 2017 Jul 17;109(13):1030-1038.

Everson JL, Fink DM, Yoon JW, Leslie EJ, Kietzman HW, Ansen-Wilson LJ, Chung HM, Walterhouse DO, Marazita ML, Lipinski RJ. Sonic hedgehog regulation of Foxf2 promotes cranial neural crest mesenchyme proliferation and is disrupted in cleft lip morphogenesis. Development. 2017 Jun 1;144(11):2082-2091. 

Lee MK, Shaffer JR, Leslie EJ, Orlova E, Carlson JC, Feingold E, Marazita ML, Weinberg SM. Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. PLoS One. 2017 Apr 25;12(4):e0176566. 

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. Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate. Am J Med Genet A. 2017 Jun;173(6):1531-1538. 

Ersig AL, Schutte DL, Standley J, Leslie E, Zimmerman B, Kleiber C, Hanrahan K, Murray JC, McCarthy AM. Relationship of Genetic Variants With Procedural Pain, Anxiety, and Distress in Children. Biol Res Nurs. 2017 May;19(3):339-349.

Liu H, Leslie EJ, Carlson JC, Beaty TH, Marazita ML, Lidral AC, Cornell RA. Identification of common non-coding variants at 1p22 that are functional for non-syndromic orofacial clefting. Nat Commun. 2017 Mar 13;8:14759. 

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. 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. Hum Genet. 2017 Mar;136(3):275-286. 

Xiao Y, Taub MA, Ruczinski I, Begum F, Hetmanski JB, Schwender H, Leslie EJ, Koboldt DC, Murray JC, Marazita ML, Beaty TH. Evidence for SNP-SNP interaction identified through targeted sequencing of cleft case-parent trios. Genet Epidemiol. 2017 Apr;41(3):244-250.