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 EJIdentification 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 EJIdentifying 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. 

Beaty TH, Marazita ML, Leslie EJGenetic factors influencing risk to orofacial clefts: today's challenges and tomorrow's opportunities. F1000Res. 2016 Nov 30;5:2800.

Shaffer JR, Orlova E, Lee MK, Leslie EJ, Raffensperger ZD, Heike CL, Cunningham ML, Hecht JT, Kau CH, Nidey NL, Moreno LM, Wehby GL, Murray JC, Laurie CA, Laurie CC, Cole J, Ferrara T, Santorico S, Klein O, Mio W, Feingold E, Hallgrimsson B, Spritz RA, Marazita ML, Weinberg SM. Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology. PLoS Genet. 2016 Aug 25;12(8):e1006149.

Weinberg SM, Leslie EJ, Hecht JT, Wehby GL, Deleyiannis FW, Moreno LM, Christensen K, Marazita ML. Hypertelorism and Orofacial Clefting Revisited: An Anthropometric Investigation. Cleft Palate Craniofac J. 2016 Aug 9.

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

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. A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3. Am J Hum Genet. 2016 Apr 7;98(4):744-54. 

Leslie EJ, Carlson JC, Cooper ME, Christensen K, Weinberg SM, Marazita ML. Exploring Subclinical Phenotypic Features in Twin Pairs Discordant for Cleft Lip and Palate. Cleft Palate Craniofac J. 2017 Jan;54(1):90-93. 

Liu H*, Leslie EJ*, Jia Z*, Smith T, Eshete M, Butali A, Dunnwald M, Murray J, Cornell RA. 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. Hum Mol Genet. 2016 Feb 15;25(4):766-76. 

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. IRF6 mutation screening in non-syndromic orofacial clefting: analysis of 1521 families. Clin Genet. 2016 Jul;90(1):28-34. 

Ruegg TA, Cooper ME, Leslie EJ, Ford MD, Wehby GL, Deleyiannis FW, Czeizel AE, Hecht JT, Marazita ML, Weinberg SM. Ear Infection in Isolated Cleft Lip: Etiological Implications. Cleft Palate Craniofac J. 2017 Mar;54(2):189-192. 

Shaffer JR, Leslie EJ, Feingold E, Govil M, McNeil DW, Crout RJ, Weyant RJ, Marazita ML. Caries Experience Differs between Females and Males across Age Groups in Northern Appalachia. Int J Dent. 2015;2015:938213.

Wolf ZT, Brand HA, Shaffer JR, Leslie EJ, Arzi B, Willet CE, Cox TC, McHenry T, Narayan N, Feingold E, Wang X, Sliskovic S, Karmi N, Safra N, Sanchez C, Deleyiannis FW, Murray JC, Wade CM, Marazita ML, Bannasch DL. Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate. PLoS Genet. 2015 Mar 23;11(3):e1005059.

Jia Z*, Leslie EJ*, Cooper ME, Butali A, Standley J, Rigdon J, Suzuki S, Gongorjav A, Shonkhuuz TE, Natsume N, Shi B, Marazita ML, Murray JC. Replication of 13q31.1 association in nonsyndromic cleft lip with cleft palate in Europeans. Am J Med Genet A. 2015 May;167A(5):1054-1060. 

Leslie EJ*, Taub MA*, Liu H, Steinberg KM, Koboldt DC, Zhang Q, Carlson JC, Hetmanski JB, Wang H, Larson DE, Fulton RS, Kousa YA, Fakhouri WD, Naji A, Ruczinski I, Begum F, Parker MM, Busch T, Standley J, Rigdon J, Hecht JT, Scott AF, Wehby GL, Christensen K, Czeizel AE, Deleyiannis FW, Schutte BC, Wilson RK, Cornell RA, Lidral AC, Weinstock GM, Beaty TH, Marazita ML, Murray JC. Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci. Am J Hum Genet. 2015 Mar 5;96(3):397-411. 

Leslie EJ, O'Sullivan J, Cunningham ML, Singh A, Goudy SL, Ababneh F, Alsubaie L, Ch'ng GS, van der Laar IM, Hoogeboom AJ, Dunnwald M, Kapoor S, Jiramongkolchai P, Standley J, Manak JR, Murray JC, Dixon MJ. Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders. Am J Med Genet A. 2015 Mar;167A(3):545-52.

Schutte BC, Saal HM, Goudy S, Leslie EIRF6-Related Disorders. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2003 Oct 30 [updated 2014 Jul 3].

Wolf ZT, Leslie EJ, Arzi B, Jayashankar K, Karmi N, Jia Z, Rowland DJ, Young A, Safra N, Sliskovic S, Murray JC, Wade CM, Bannasch DL. A LINE-1 insertion in DLX6 is responsible for cleft palate and mandibular abnormalities in a canine model of Pierre Robin sequence. PLoS Genet. 2014 Apr 3;10(4):e1004257.

Fakhouri WD, Rahimov F, Attanasio C, Kouwenhoven EN, Ferreira De Lima RL, Felix TM, Nitschke L, Huver D, Barrons J, Kousa YA, Leslie E, Pennacchio LA, Van Bokhoven H, Visel A, Zhou H, Murray JC, Schutte BC. An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects. Hum Mol Genet. 2014 May 15;23(10):2711-20.

Peyrard-Janvid M, Leslie EJ, Kousa YA, Smith TL, Dunnwald M, Magnusson M, Lentz BA, Unneberg P, Fransson I, Koillinen HK, Rautio J, Pegelow M, Karsten A, Basel-Vanagaite L, Gordon W, Andersen B, Svensson T, Murray JC, Cornell RA, Kere J, Schutte BC. Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development. Am J Hum Genet. 2014 Jan 2;94(1):23-32.

Leslie EJ, Marazita ML. Genetics of cleft lip and cleft palate. Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):246-58.

Leslie EJ*, Mancuso JL*, Schutte BC, Cooper ME, Durda KM, L'Heureux J, Zucchero TM, Marazita ML, Murray JC. Search for genetic modifiers of IRF6 and genotype-phenotype correlations in Van der Woude and popliteal pterygium syndromes. Am J Med Genet A. 2013 Oct;161A(10):2535-2544.

Cherepanova NS, Leslie E, Ferguson PJ, Bamshad MJ, Bassuk AG. Presence of epilepsy-associated variants in large exome databases. J Neurogenet. 2013 Jun;27(1-2):1-4.

Butali A, Suzuki S, Cooper ME, Mansilla AM, Cuenco K, Leslie EJ, Suzuki Y, Niimi T, Yamamoto M, Ayanga G, Erkhembaatar T, Furukawa H, Fujiwawa K, Imura H, Petrin AL, Natsume N, Beaty TH, Marazita ML, Murray JC. Replication of genome wide association identified candidate genes confirm the role of common and rare variants in PAX7 and VAX1 in the etiology of nonsyndromic CL(P). Am J Med Genet A. 2013 May;161A(5):965-72.

Leslie EJ, Standley J, Compton J, Bale S, Schutte BC, Murray JC. Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases. Genet Med. 2013 May;15(5):338-44. 

Leslie EJ, Mansilla MA, Biggs LC, Schuette K, Bullard S, Cooper M, Dunnwald M, Lidral AC, Marazita ML, Beaty TH, Murray JC. Expression and mutation analyses implicate ARHGAP29 as the etiologic gene for the cleft lip with or without cleft palate locus identified by genome-wide association on chromosome 1p22. Birth Defects Res A Clin Mol Teratol. 2012 Nov;94(11):934-42.

Leslie EJ, Murray JC. Evaluating rare coding variants as contributing causes to non-syndromic cleft lip and palate. Clin Genet. 2013 Nov;84(5):496-500.

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. A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. Nat Genet. 2010 Jun;42(6):525-9.

Gilbert DL, Leslie EJ, Keddache M, Leslie ND. A novel hereditary spastic paraplegia with dystonia linked to chromosome 2q24-2q31. Mov Disord. 2009 Feb 15;24(3):364-70.