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Profile

Elizabeth Leslie-Clarkson

  • Department of Human Genetics
    Associate Professor
  • (404) 727-3505
  • ejlesli@emory.edu
  • Emory Cleft Project Website
  • Lab Website
  • 615 Michael Street
    Suite 305N
    Atlanta, GA 30322
Head shot of Elizabeth Leslie-Clarkson

Overview

Dr. Leslie's research combines genomics with deep phenotyping to understand the genetic architecture of craniofacial birth defects and fundamental questions of phenotypic heterogeneity, penetrance, and variable expressivity. In addition to identifying new loci for nonsyndromic cleft lip and palate, she is one of the leading experts on Van der Woude syndrome, the most common Mendelian clefting syndrome. She received her PhD in Genetics from the University of Iowa and postdoctoral training at the University of Pittsburgh, where she previously held a faculty position in Oral Biology.

Academic Appointment

  • Assistant Professor, Human Genetics, Emory University

Education

Degrees

  • PhD from University of Iowa
  • BA from St. Olaf College

Research

Publications

  • Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder.
    Am J Hum Genet Volume: 112 Page(s): 1388 - 1414
    06/05/2025 Authors: Prez Baca MDR; Palomares-Bralo M; Vanhooydonck M; Hamerlinck L; D'haene E; Leimbacher S; Jacobs EZ; De Cock L; D'haenens E; Dheedene A
  • Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy.

    01/17/2025 Authors: Robinson K; Singh SK; Walkup RB; Fawwal DV; Adeyemo WL; Beaty TH; Butali A; Bux CJ; Chung WK; Cutler DJ
  • Building a growing genomic repository for maternal and fetal health through the PING Consortium.
    Pediatr Res
    01/03/2025 Authors: Abdelmalek CM; Singh S; Fasil B; Horvath AR; Mulkey SB; Cur C; Campos M; Cavalcanti DP; Tong VT; Mercado M
  • Gene-by-environment interactions involving maternal exposures with orofacial cleft risk in Filipinos.
    medRxiv
    12/17/2024 Authors: Erdogan-Yildirim Z; Carlson JC; Mukhopadhyay N; Leslie EJ; Padilla C; Murray JC; Beaty TH; Weinberg SM; Marazita ML; Shaffer JR
  • Genome-wide study of gene-by-sex interactions identifies risks for cleft palate.
    Hum Genet Volume: 143 Page(s): 1341 - 1352
    11/01/2024 Authors: Robinson K; Parrish R; Adeyemo WL; Beaty TH; Butali A; Bux CJ; Gowans LJJ; Hecht JT; Moreno Uribe L; Murray JC
  • Genome-wide association studies of Down syndrome associated congenital heart defects.

    09/06/2024 Authors: Feldman ER; Li Y; Cutler DJ; Rosser TC; Wechsler SB; Sanclemente L; Rachubinski AL; Elliott N; Vyas P; Roberts I
  • Functional analysis of ESRP1/2 gene variants and CTNND1 isoforms in orofacial cleft pathogenesis.
    Commun Biol Volume: 7 Page(s): 1040
    08/23/2024 Authors: Caetano da Silva C; Macias Trevino C; Mitchell J; Murali H; Tsimbal C; Dalessandro E; Carroll SH; Kochhar S; Curtis SW; Cheng CHE
  • Investigating gene functions and single-cell expression profiles of de novo variants in orofacial clefts.
    HGG Adv Volume: 5 Page(s): 100313
    07/18/2024 Authors: Itai T; Yan F; Liu A; Dai Y; Iwaya C; Curtis SW; Leslie EJ; Simon LM; Jia P; Chen X
  • Functional analysis of ESRP1/2 gene variants and CTNND1 isoforms in orofacial cleft pathogenesis.
    bioRxiv
    07/02/2024 Authors: da Silva CC; Trevino CM; Mitchell J; Murali H; Tsimbal C; Dalessandro E; Carroll SH; Kochhar S; Curtis SW; Cheng CHE
  • Building a growing genomic data repository for maternal and fetal health through the PING Consortium.
    medRxiv
    05/25/2024 Authors: Abdelmalek CM; Singh S; Fasil B; Horvath AR; Mulkey SB; Cur C; Campos M; Cavalcanti DP; Tong VT; Mercado M
  • Genome-wide study of gene-by-sex interactions identifies risks for cleft palate.
    medRxiv
    05/03/2024 Authors: Robinson K; Parrish R; Adeyemo WL; Beaty TH; Butali A; Bux CJ; Gowans LJ; Hecht JT; Moreno L; Murray JC
  • The heterogeneous genetic architectures of orofacial clefts.
    Trends Genet Volume: 40 Page(s): 410 - 421
    05/01/2024 Authors: Robinson K; Curtis SW; Leslie EJ
  • Trio-based GWAS identifies novel associations and subtype-specific risk factors for cleft palate.
    HGG Adv Volume: 4 Page(s): 100234
    10/12/2023 Authors: Robinson K; Mosley TJ; Rivera-Gonzlez KS; Jabbarpour CR; Curtis SW; Adeyemo WL; Beaty TH; Butali A; Bux CJ; Cutler DJ
  • Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes.
    Hum Genet Volume: 142 Page(s): 1531 - 1541
    10/01/2023 Authors: Curtis SW; Carlson JC; Beaty TH; Murray JC; Weinberg SM; Marazita ML; Cotney JL; Cutler DJ; Epstein MP; Leslie EJ
  • Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?
    Am J Med Genet A Volume: 191 Page(s): 2558 - 2570
    10/01/2023 Authors: Diaz Perez KK; Chung S; Head ST; Epstein MP; Hecht JT; Wehby GL; Weinberg SM; Murray JC; Marazita ML; Leslie EJ
  • Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting.
    Genet Med Volume: 25 Page(s): 100918
    10/01/2023 Authors: Diaz Perez KK; Curtis SW; Sanchis-Juan A; Zhao X; Head T; Ho S; Carter B; McHenry T; Bishop MR; Valencia-Ramirez LC
  • Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes.
    Nat Commun Volume: 14 Page(s): 4623
    08/02/2023 Authors: Yankee TN; Oh S; Winchester EW; Wilderman A; Robinson K; Gordon T; Rosenfeld JA; VanOudenhove J; Scott DA; Leslie EJ
  • Trio-based GWAS identifies novel associations and subtype-specific risk factors for cleft palate.
    medRxiv
    04/06/2023 Authors: Robinson K; Mosley TJ; Rivera-Gonzlez KS; Jabbarpour CR; Curtis SW; Adeyemo WL; Beaty TH; Butali A; Bux CJ; Cutler DJ
  • POIROT: a powerful test for parent-of-origin effects in unrelated samples leveraging multiple phenotypes.
    Bioinformatics Volume: 39
    04/03/2023 Authors: Head ST; Leslie EJ; Cutler DJ; Epstein MP
  • Rare genetic variants in SEC24D modify orofacial cleft phenotypes.
    medRxiv
    03/27/2023 Authors: Curtis SW; Carlson JC; Beaty TH; Murray JC; Weinberg SM; Marazita ML; Cotney JL; Cutler DJ; Epstein MP; Leslie EJ
  • Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?
    medRxiv
    02/07/2023 Authors: Perez KKD; Chung S; Head ST; Epstein MP; Hecht JT; Wehby GL; Weinberg SM; Murray JC; Marazita ML; Leslie EJ
  • Heritability Analysis in Twins Indicates a Genetic Basis for Velopharyngeal Morphology.
    Cleft Palate Craniofac J Volume: 59 Page(s): 1340 - 1345
    11/01/2022 Authors: Lee MK; Liu C; Leslie EJ; Shaffer JR; Perry JL; Weinberg SM
  • Efficient estimation of indirect effects in case-control studies using a unified likelihood framework.
    Stat Med Volume: 41 Page(s): 2879 - 2893
    07/10/2022 Authors: Satten GA; Curtis SW; Solis-Lemus C; Leslie EJ; Epstein MP
  • Genetic models and approaches to study orofacial clefts.
    Oral Dis Volume: 28 Page(s): 1327 - 1338
    07/01/2022 Authors: Leslie EJ
  • Feasibility of Social Media Recruitment for Orofacial Cleft Genetic Research.
    Cleft Palate Craniofac J Volume: 59 Page(s): 701 - 707
    06/01/2022 Authors: Carlock G; Manning K; Leslie EJ
  • Whole Genome Sequencing Reveals Varied Genetic Architectures of Orofacial Clefts
    Volume: 114 Page(s): 373 - 374
    05/01/2022 Authors: Leslie EJ; Perez DKK; Curtis SW; Mukhopadhyay N; Brand H; Feingold E; Hecht JT; Uribe MLM; Wehby G; Weinberg SM
  • The Genomics of Acute Lymphoblastic Leukemia in Children with Down Syndrome
    BIRTH DEFECTS RESEARCH Volume: 114 Page(s): 374 - 374
    05/01/2022 Authors: Lupo PJ; Li Z; Cheng Z; Brown AL; De Smith A; Shetty P; Scheurer M; Heerema N; Carroll A; Borowitz M
  • Genome-wide association study of multiethnic nonsyndromic orofacial cleft families identifies novel loci specific to family and phenotypic subtypes.
    Genet Epidemiol Volume: 46 Page(s): 182 - 198
    04/01/2022 Authors: Mukhopadhyay N; Feingold E; Moreno-Uribe L; Wehby G; Valencia-Ramirez LC; Restrepo Mueton CP; Padilla C; Deleyiannis F; Christensen K; Poletta FA
  • A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia.
    Mov Disord Volume: 37 Page(s): 375 - 383
    02/01/2022 Authors: Neilson DE; Zech M; Hufnagel RB; Slone J; Wang X; Homan S; Gutzwiller LM; Leslie EJ; Leslie ND; Xiao J
  • Genome-wide Interaction Study Implicates VGLL2 and Alcohol Exposure and PRL and Smoking in Orofacial Cleft Risk.
    Front Cell Dev Biol Volume: 10 Page(s): 621261
    01/01/2022 Authors: Carlson JC; Shaffer JR; Deleyiannis F; Hecht JT; Wehby GL; Christensen K; Feingold E; Weinberg SM; Marazita ML; Leslie EJ
  • FAT4 identified as a potential modifier of orofacial cleft laterality.
    Genet Epidemiol Volume: 45 Page(s): 721 - 735
    10/01/2021 Authors: Curtis SW; Chang D; Sun MR; Epstein MP; Murray JC; Feingold E; Beaty TH; Weinberg SM; Marazita ML; Lipinski RJ
  • Integrative approaches generate insights into the architecture of non-syndromic cleft lip with or without cleft palate.
    HGG Adv Volume: 2 Page(s): 100038
    07/08/2021 Authors: Welzenbach J; Hammond NL; Nikoli M; Thieme F; Ishorst N; Leslie EJ; Weinberg SM; Beaty TH; Marazita ML; Mangold E
  • Pleiotropy method reveals genetic overlap between orofacial clefts at multiple novel loci from GWAS of multi-ethnic trios.
    PLoS Genet Volume: 17 Page(s): e1009584
    07/01/2021 Authors: Ray D; Venkataraghavan S; Zhang W; Leslie EJ; Hetmanski JB; Weinberg SM; Murray JC; Marazita ML; Ruczinski I; Taub MA
  • Craniofacial features of 3q29 deletion syndrome: Application of next-generation phenotyping technology.
    Am J Med Genet A Volume: 185 Page(s): 2094 - 2101
    07/01/2021 Authors: Mak BC; Sanchez Russo R; Gambello MJ; Fleischer N; Black ED; Leslie E; Murphy MM; Emory 3q29 Project; Mulle JG
  • Convergent and distributed effects of the 3q29 deletion on the human neural transcriptome.
    Transl Psychiatry Volume: 11 Page(s): 357
    06/15/2021 Authors: Sefik E; Purcell RH; Emory 3q29 Project; Walker EF; Bassell GJ; Mulle JG
  • Clinical, behavioural and social factors associated with racial disparities in COVID-19 patients from an integrated healthcare system in Georgia: a retrospective cohort study.
    BMJ Open Volume: 11 Page(s): e044052
    05/19/2021 Authors: Lobelo F; Bienvenida A; Leung S; Mbanya A; Leslie E; Koplan K; Shin SR
  • Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care.
    Genet Med Volume: 23 Page(s): 872 - 880
    05/01/2021 Authors: Sanchez Russo R; Gambello MJ; Murphy MM; Aberizk K; Black E; Burrell TL; Carlock G; Cubells JF; Epstein MT; Espana R
  • Identification of a non-coding SNP associated with risk for non-syndromic orofacial clefting with allele-specific effects on IRF6 expression in vitro
    Volume: 35
    05/01/2021 Authors: Kumari P; Friedman R; Pi L; Helverson A; Curtis S; Darbellay F; Vise A; Leslie E; White M; Cohen B
  • The PAX1 locus at 20p11 is a potential genetic modifier for bilateral cleft lip.
    HGG Adv Volume: 2
    04/08/2021 Authors: Curtis SW; Chang D; Lee MK; Shaffer JR; Indencleef K; Epstein MP; Cutler DJ; Murray JC; Feingold E; Beaty TH
  • Detecting Gene-Environment Interaction for Maternal Exposures Using Case-Parent Trios Ascertained Through a Case With Non-Syndromic Orofacial Cleft.
    Front Cell Dev Biol Volume: 9 Page(s): 621018
    01/01/2021 Authors: Zhang W; Venkataraghavan S; Hetmanski JB; Leslie EJ; Marazita ML; Feingold E; Weinberg SM; Ruczinski I; Taub MA; Scott AF
  • Genome-Wide Association Study of Non-syndromic Orofacial Clefts in a Multiethnic Sample of Families and Controls Identifies Novel Regions.
    Front Cell Dev Biol Volume: 9 Page(s): 621482
    01/01/2021 Authors: Mukhopadhyay N; Feingold E; Moreno-Uribe L; Wehby G; Valencia-Ramirez LC; Mueton CPR; Padilla C; Deleyiannis F; Christensen K; Poletta FA
  • FaceBase 3: analytical tools and FAIR resources for craniofacial and dental research.
    Development Volume: 147
    09/21/2020 Authors: Samuels BD; Aho R; Brinkley JF; Bugacov A; Feingold E; Fisher S; Gonzalez-Reiche AS; Hacia JG; Hallgrimsson B; Hansen K
  • Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios.
    Am J Hum Genet Volume: 107 Page(s): 124 - 136
    07/02/2020 Authors: Bishop MR; Diaz Perez KK; Sun M; Ho S; Chopra P; Mukhopadhyay N; Hetmanski JB; Taub MA; Moreno-Uribe LM; Valencia-Ramirez LC
  • Embracing human genetics: a primer for developmental biologists.
    Development Volume: 147
    07/02/2020 Authors: Leslie EJ
  • Improved mediation analyses in case-control studies
    Volume: 44 Page(s): 479 - 480
    07/01/2020 Authors: Epstein MP; Leslie EJ; Satten GA
  • Comprehensive phenotyping of neuropsychiatric traits in a multiplex 3q29 deletion family: a case report.
    BMC Psychiatry Volume: 20 Page(s): 184
    04/22/2020 Authors: Murphy MM; Burrell TL; Cubells JF; Epstein MT; Espana R; Gambello MJ; Goines K; Klaiman C; Koh S; Russo RS
  • Analysis of zebrafish periderm enhancers facilitates identification of a regulatory variant near human KRT8/18.
    Elife Volume: 9
    02/07/2020 Authors: Liu H; Duncan K; Helverson A; Kumari P; Mumm C; Xiao Y; Carlson JC; Darbellay F; Visel A; Leslie E
  • Leveraging Family History in Case-Control Analyses of Rare Variation.
    Genetics Volume: 214 Page(s): 295 - 303
    02/01/2020 Authors: Solis-Lemus CR; Fischer ST; Todor A; Liu C; Leslie EJ; Cutler DJ; Ghosh D; Epstein MP
  • 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 Volume: 139 Page(s): 215 - 226
    02/01/2020 Authors: Mukhopadhyay N; Bishop M; Mortillo M; Chopra P; Hetmanski JB; Taub MA; Moreno LM; Valencia-Ramirez LC; Restrepo C; Wehby GL
  • Individuals with nonsyndromic orofacial clefts have increased asymmetry of fingerprint patterns.
    PLoS One Volume: 15 Page(s): e0230534
    01/01/2020 Authors: Neiswanger K; Mukhopadhyay N; Rajagopalan S; Leslie EJ; Sanchez CA; Hecht JT; Orioli IM; Poletta FA; de Salamanca JE; Weinberg SM
  • A Novel Statistical Test Identifies Eight Loci Associated with Two Non-syndromic Orofacial Cleft Subgroups in GWAS of Multi-Ethnic Case-Parent Trios
    Volume: 43 Page(s): 906 - 906
    10/01/2019 Authors: Ray D; Venkataraghavan S; Zhang W; Bidinger JA; Leslie EJ; Taub MA; Marazita ML; Beaty TH
  • A systematic genetic analysis and visualization of phenotypic heterogeneity among orofacial cleft GWAS signals.
    Genet Epidemiol Volume: 43 Page(s): 704 - 716
    09/01/2019 Authors: Carlson JC; Anand D; Butali A; Buxo CJ; Christensen K; Deleyiannis F; Hecht JT; Moreno LM; Orioli IM; Padilla C
  • The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation.
    Hum Mol Genet Volume: 28 Page(s): 1726 - 1737
    05/15/2019 Authors: Kousa YA; Zhu H; Fakhouri WD; Lei Y; Kinoshita A; Roushangar RR; Patel NK; Agopian AJ; Yang W; Leslie EJ
  • Association of low-frequency genetic variants in regulatory regions with nonsyndromic orofacial clefts.
    Am J Med Genet A Volume: 179 Page(s): 467 - 474
    03/01/2019 Authors: Shaffer JR; LeClair J; Carlson JC; Feingold E; Bux CJ; Christensen K; Deleyiannis FWB; Field LL; Hecht JT; Moreno L
  • Genetic Variants and the Cortisol Response in Children: An Exploratory Study.
    Biol Res Nurs Volume: 21 Page(s): 157 - 165
    03/01/2019 Authors: Ersig AL; Schutte DL; Standley J; Leslie EJ; Zimmerman B; Hanrahan K; Murray JC; McCarthy AM
  • Detection of de novo copy number deletions from targeted sequencing of trios.
    Bioinformatics Volume: 35 Page(s): 571 - 578
    02/15/2019 Authors: Fu JM; Leslie EJ; Scott AF; Murray JC; Marazita ML; Beaty TH; Scharpf RB; Ruczinski I
  • Neuropsychiatric phenotypes and a distinct constellation of ASD features in 3q29 deletion syndrome: results from the 3q29 registry.
    Mol Autism Volume: 10 Page(s): 30
    01/01/2019 Authors: Pollak RM; Murphy MM; Epstein MP; Zwick ME; Klaiman C; Saulnier CA; Emory 3q29 Project; Mulle JG
  • Genome-wide interaction studies identify sex-specific risk alleles for nonsyndromic orofacial clefts.
    Genet Epidemiol Volume: 42 Page(s): 664 - 672
    10/01/2018 Authors: Carlson JC; Nidey NL; Butali A; Buxo CJ; Christensen K; Deleyiannis FW-D; Hecht JT; Field LL; Moreno-Uribe LM; Orioli IM
  • Novel and highly accurate method to detect de novo copy number deletions from targeted resequencing data identifies potentially causal variant in TRAF3IP3 in an oral cleft proband
    Volume: 26 Page(s): 242 - 242
    10/01/2018 Authors: Ruczinski I; Fu J; Scharpf R; Scott A; Beaty T; Leslie E; Marazita M
  • Craniofacial genetics: Where have we been and where are we going?
    PLoS Genet Volume: 14 Page(s): e1007438
    06/01/2018 Authors: Weinberg SM; Cornell R; Leslie EJ
  • SONIC HEDGEHOG SIGNALING TARGETS FOXF2 DURING UPPER LIP MORPHOGENESIS AND CLEFT LIP PATHOGENESIS
    Volume: 176 Page(s): 1521 - 1521
    06/01/2018 Authors: Everson J; Fink D; Leslie E; Lipinski R
  • GWAS reveals loci associated with velopharyngeal dysfunction.
    Sci Rep Volume: 8 Page(s): 8470
    05/31/2018 Authors: Chernus J; Roosenboom J; Ford M; Lee MK; Emanuele B; Anderton J; Hecht JT; Padilla C; Deleyiannis FWB; Buxo CJ
  • Rare and Common Variants Conferring Risk of Tooth Agenesis.
    J Dent Res Volume: 97 Page(s): 515 - 522
    05/01/2018 Authors: Jonsson L; Magnusson TE; Thordarson A; Jonsson T; Geller F; Feenstra B; Melbye M; Nohr EA; Vucic S; Dhamo B
  • Genome-wide mapping of global-to-local genetic effects on human facial shape.
    Nat Genet Volume: 50 Page(s): 414 - 423
    03/01/2018 Authors: Claes P; Roosenboom J; White JD; Swigut T; Sero D; Li J; Lee MK; Zaidi A; Mattern BC; Liebowitz C
  • Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment.
    Am J Hum Genet Volume: 101 Page(s): 913 - 924
    12/07/2017 Authors: Shaffer JR; Li J; Lee MK; Roosenboom J; Orlova E; Adhikari K; 23andMe Research Team; Gallo C; Poletti G; Schuler-Faccini L
  • Identification of 16q21 as a modifier of nonsyndromic orofacial cleft phenotypes.
    Genet Epidemiol Volume: 41 Page(s): 887 - 897
    12/01/2017 Authors: Carlson JC; Standley J; Petrin A; Shaffer JR; Butali A; Bux CJ; Castilla E; Christensen K; Deleyiannis FW-D; Hecht JT
  • Testing the face shape hypothesis in twins discordant for nonsyndromic orofacial clefting.
    Am J Med Genet A Volume: 173 Page(s): 2886 - 2892
    11/01/2017 Authors: Roosenboom J; Indencleef K; Hens G; Peeters H; Christensen K; Marazita ML; Claes P; Leslie EJ; Weinberg SM
  • Hypertelorism and Orofacial Clefting Revisited: An Anthropometric Investigation.
    Cleft Palate Craniofac J Volume: 54 Page(s): 631 - 638
    11/01/2017 Authors: Weinberg SM; Leslie EJ; Hecht JT; Wehby GL; Deleyiannis FWB; Moreno LM; Christensen K; Marazita ML
  • Identifying Genetic Sources of Phenotypic Heterogeneity in Orofacial Clefts by Targeted Sequencing.
    Birth Defects Res Volume: 109 Page(s): 1030 - 1038
    07/17/2017 Authors: Carlson JC; Taub MA; Feingold E; Beaty TH; Murray JC; Marazita ML; Leslie EJ
  • Sonic hedgehog regulation of Foxf2 promotes cranial neural crest mesenchyme proliferation and is disrupted in cleft lip morphogenesis.
    Development Volume: 144 Page(s): 2082 - 2091
    06/01/2017 Authors: Everson JL; Fink DM; Yoon JW; Leslie EJ; Kietzman HW; Ansen-Wilson LJ; Chung HM; Walterhouse DO; Marazita ML; Lipinski RJ
  • Association studies of low-frequency coding variants in nonsyndromic cleft lip with or without cleft palate.
    Am J Med Genet A Volume: 173 Page(s): 1531 - 1538
    06/01/2017 Authors: Leslie EJ; Carlson JC; Shaffer JR; Bux CJ; Castilla EE; Christensen K; Deleyiannis FWB; Field LL; Hecht JT; Moreno L
  • Relationship of Genetic Variants With Procedural Pain, Anxiety, and Distress in Children.
    Biol Res Nurs Volume: 19 Page(s): 339 - 349
    05/01/2017 Authors: Ersig AL; Schutte DL; Standley J; Leslie E; Zimmerman B; Kleiber C; Hanrahan K; Murray JC; McCarthy AM
  • Evidence for SNP-SNP interaction identified through targeted sequencing of cleft case-parent trios.
    Genet Epidemiol Volume: 41 Page(s): 244 - 250
    04/01/2017 Authors: Xiao Y; Taub MA; Ruczinski I; Begum F; Hetmanski JB; Schwender H; Leslie EJ; Koboldt DC; Murray JC; Marazita ML
  • Modular 3D dense surface analysis and GWAS reveal localized genetic effects on human facial morphology involving multiple novel loci
    Volume: 31
    04/01/2017 Authors: Weinberg SM; Lee MK; Leslie EJ; Orlova E; Carlson JC; Roosenboom J; Mattern BC; Liebowitz CR; White JD; Zaidi A
  • Identification of common non-coding variants at 1p22 that are functional for non-syndromic orofacial clefting.
    Nat Commun Volume: 8 Page(s): 14759
    03/13/2017 Authors: Liu H; Leslie EJ; Carlson JC; Beaty TH; Marazita ML; Lidral AC; Cornell RA
  • 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 Volume: 136 Page(s): 275 - 286
    03/01/2017 Authors: Leslie EJ; Carlson JC; Shaffer JR; Butali A; Bux CJ; Castilla EE; Christensen K; Deleyiannis FWB; Leigh Field L; Hecht JT
  • Ear Infection in Isolated Cleft Lip: Etiological Implications.
    Cleft Palate Craniofac J Volume: 54 Page(s): 189 - 192
    03/01/2017 Authors: Ruegg TA; Cooper ME; Leslie EJ; Ford MD; Wehby GL; Deleyiannis FWB; Czeizel AE; Hecht JT; Marazita ML; Weinberg SM
  • Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2.
    PLoS One Volume: 12 Page(s): e0176566
    01/01/2017 Authors: Lee MK; Shaffer JR; Leslie EJ; Orlova E; Carlson JC; Feingold E; Marazita ML; Weinberg SM
  • Exploring Subclinical Phenotypic Features in Twin Pairs Discordant for Cleft Lip and Palate.
    Cleft Palate Craniofac J Volume: 54 Page(s): 90 - 93
    01/01/2017 Authors: Leslie EJ; Carlson JC; Cooper ME; Christensen K; Weinberg SM; Marazita ML
  • Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology.
    PLoS Genet Volume: 12 Page(s): e1006149
    08/01/2016 Authors: Shaffer JR; Orlova E; Lee MK; Leslie EJ; Raffensperger ZD; Heike CL; Cunningham ML; Hecht JT; Kau CH; Nidey NL
  • The FaceBase Consortium: a comprehensive resource for craniofacial researchers.
    Development Volume: 143 Page(s): 2677 - 2688
    07/15/2016 Authors: Brinkley JF; Fisher S; Harris MP; Holmes G; Hooper JE; Jabs EW; Jones KL; Kesselman C; Klein OD; Maas RL
  • 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 Volume: 25 Page(s): 2862 - 2872
    07/01/2016 Authors: Leslie EJ; Carlson JC; Shaffer JR; Feingold E; Wehby G; Laurie CA; Jain D; Laurie CC; Doheny KF; McHenry T
  • IRF6 mutation screening in non-syndromic orofacial clefting: analysis of 1521 families.
    Clin Genet Volume: 90 Page(s): 28 - 34
    07/01/2016 Authors: Leslie EJ; Koboldt DC; Kang CJ; Ma L; Hecht JT; Wehby GL; Christensen K; Czeizel AE; Deleyiannis FW-B; Fulton RS
  • A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3.
    Am J Hum Genet Volume: 98 Page(s): 744 - 754
    04/07/2016 Authors: Leslie EJ; Liu H; Carlson JC; Shaffer JR; Feingold E; Wehby G; Laurie CA; Jain D; Laurie CC; Doheny KF
  • 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 Volume: 25 Page(s): 766 - 776
    02/15/2016 Authors: Liu H; Leslie EJ; Jia Z; Smith T; Eshete M; Butali A; Dunnwald M; Murray J; Cornell RA
  • Genetic factors influencing risk to orofacial clefts: today's challenges and tomorrow's opportunities.
    F1000Res Volume: 5 Page(s): 2800
    01/01/2016 Authors: Beaty TH; Marazita ML; Leslie EJ
  • IRF6-Related Disorders, National Organization for Rare Disorders

    01/01/2016 Authors: Schutte BC; Leslie EJ; Saal HM
  • Detecting Gene-Gene Interactions for Cleft Lip with/without Cleft Palate in Targeted Sequencing Data
    Volume: 39 Page(s): 593 - 594
    11/01/2015 Authors: Xiao Y; Beaty TH; Taub MA; Begum F; Hetmanski JB; Parker MM; Scott AF; Ruczinski I; Schwender H; Marazita ML
  • KLF4 is downstream of IRF6 in the periderm gene regulatory network and is a candidate human clefting locus
    Volume: 167 Page(s): 1468 - 1468
    07/01/2015 Authors: Liu H; Leslie E; Jia Z; Smith T; Murray J; Cornell R
  • Replication of 13q31.1 association in nonsyndromic cleft lip with cleft palate in Europeans.
    Am J Med Genet A Volume: 167A Page(s): 1054 - 1060
    05/01/2015 Authors: Jia Z; Leslie EJ; Cooper ME; Butali A; Standley J; Rigdon J; Suzuki S; Gongorjav A; Shonkhuuz TE; Natsume N
  • A GENE REGULATORY NETWORK SHARED BETWEEN NEURULATION AND OROFACIAL DEVELOPMENT
    Volume: 63 Page(s): 676 - 676
    04/01/2015 Authors: Kousa YA; Roushangar RR; Zhu H; Lei Y; Finnell RH; Fakhouri WD; Busch TD; Murray JC; Bassuk A; Shaw GM
  • 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 Volume: 96 Page(s): 397 - 411
    03/05/2015 Authors: Leslie EJ; Taub MA; Liu H; Steinberg KM; Koboldt DC; Zhang Q; Carlson JC; Hetmanski JB; Wang H; Larson DE
  • Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate.
    PLoS Genet Volume: 11 Page(s): e1005059
    03/01/2015 Authors: Wolf ZT; Brand HA; Shaffer JR; Leslie EJ; Arzi B; Willet CE; Cox TC; McHenry T; Narayan N; Feingold E
  • Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.
    Am J Med Genet A Volume: 167A Page(s): 545 - 552
    03/01/2015 Authors: Leslie EJ; O'Sullivan J; Cunningham ML; Singh A; Goudy SL; Ababneh F; Alsubaie L; Ch'ng G-S; van der Laar IMBH; Hoogeboom AJM
  • Caries Experience Differs between Females and Males across Age Groups in Northern Appalachia.
    Int J Dent Volume: 2015 Page(s): 938213
    01/01/2015 Authors: Shaffer JR; Leslie EJ; Feingold E; Govil M; McNeil DW; Crout RJ; Weyant RJ; Marazita ML
  • An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects.
    Hum Mol Genet Volume: 23 Page(s): 2711 - 2720
    05/15/2014 Authors: Fakhouri WD; Rahimov F; Attanasio C; Kouwenhoven EN; Ferreira De Lima RL; Felix TM; Nitschke L; Huver D; Barrons J; Kousa YA
  • A LINE-1 insertion in DLX6 is responsible for cleft palate and mandibular abnormalities in a canine model of Pierre Robin sequence.
    PLoS Genet Volume: 10 Page(s): e1004257
    04/01/2014 Authors: Wolf ZT; Leslie EJ; Arzi B; Jayashankar K; Karmi N; Jia Z; Rowland DJ; Young A; Safra N; Sliskovic S
  • GWAS Follow-Up Mutation Screen and Expression Analysis Implicate ARHGAP29 as a Novel Candidate Gene for Nonsyndromic Cleft Lip/Palate
    Volume: 164 Page(s): 876 - 876
    04/01/2014 Authors: Leslie EJ; Mansilla MA; Biggs LC; Schuette K; Bullard S; Zhang T-X; Cooper M; Dunnwald M; Lidral AC; Marazita ML
  • Replication of GWAS Candidate Genes in Four Independent Populations Confirm the Role of Common Variants and Identifies Rare Variants in PAX7 and VAX1 Contributing to the Etiology of Non-Syndromic CL(P)
    Volume: 164 Page(s): 882 - 883
    04/01/2014 Authors: Butali A; Suzuki S; Mansilla MA; Petrin AL; Leslie E; L'Heureux J; Cooper ME; Natsume N; Beaty TH; Marazita ML
  • Autosomal dominant popliteal pterygium syndrome

    03/01/2014 Authors: Schutte BC; Leslie EJ
  • Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development.
    Am J Hum Genet Volume: 94 Page(s): 23 - 32
    01/02/2014 Authors: Peyrard-Janvid M; Leslie EJ; Kousa YA; Smith TL; Dunnwald M; Magnusson M; Lentz BA; Unneberg P; Fransson I; Koillinen HK
  • Genetics of cleft lip and cleft palate.
    Am J Med Genet C Semin Med Genet Volume: 163C Page(s): 246 - 258
    11/01/2013 Authors: Leslie EJ; Marazita ML
  • Evaluating rare coding variants as contributing causes to non-syndromic cleft lip and palate.
    Clin Genet Volume: 84 Page(s): 496 - 500
    11/01/2013 Authors: Leslie EJ; 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 Volume: 161A Page(s): 2535 - 2544
    10/01/2013 Authors: Leslie EJ; Mancuso JL; Schutte BC; Cooper ME; Durda KM; L'Heureux J; Zucchero TM; Marazita ML; Murray JC
  • COMMON MARKERS IDENTIFIED BY SEQUENCING CASE-PARENT TRIOS CONFIRMS 8Q24 CONTAINS A GENETIC RISK FACTOR FOR CLEFT LIP WITH/WITHOUT CLEFT PALATE WITH SUBSTANTIAL HETEROGENEITY ACROSS POPULATIONS.
    Volume: 177 Page(s): S98 - S98
    06/15/2013 Authors: Leslie E; Younkin S; Marazita M; Butali A; Lidral A; Scott A; Ruczinski I; Taub M; Hetmanski J; Parker M
  • Presence of epilepsy-associated variants in large exome databases.
    J Neurogenet Volume: 27 Page(s): 1 - 4
    06/01/2013 Authors: Cherepanova NS; Leslie E; Ferguson PJ; Bamshad MJ; Bassuk AG
  • 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 Volume: 161A Page(s): 965 - 972
    05/01/2013 Authors: Butali A; Suzuki S; Cooper ME; Mansilla AM; Cuenco K; Leslie EJ; Suzuki Y; Niimi T; Yamamoto M; Ayanga G
  • Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases.
    Genet Med Volume: 15 Page(s): 338 - 344
    05/01/2013 Authors: Leslie EJ; Standley J; Compton J; Bale S; Schutte BC; 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 Volume: 94 Page(s): 934 - 942
    11/01/2012 Authors: Leslie EJ; Mansilla MA; Biggs LC; Schuette K; Bullard S; Cooper M; Dunnwald M; Lidral AC; Marazita ML; Beaty TH
  • A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.
    Nat Genet Volume: 42 Page(s): 525 - 529
    06/01/2010 Authors: Beaty TH; Murray JC; Marazita ML; Munger RG; Ruczinski I; Hetmanski JB; Liang KY; Wu T; Murray T; Fallin MD
  • Atypical protein kinase C and interferon regulatory factor 6 govern development of zebrafish superficial epithelium
    Volume: 331 Page(s): 436 - 436
    07/15/2009 Authors: Stroik M; Lutz K; Schleiffarth JR; VanOtterloo EA; Leslie E; Cornell RA
  • A novel hereditary spastic paraplegia with dystonia linked to chromosome 2q24-2q31.
    Mov Disord Volume: 24 Page(s): 364 - 370
    02/15/2009 Authors: Gilbert DL; Leslie EJ; Keddache M; Leslie ND
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