A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4 TH Beaty, JC Murray, ML Marazita, RG Munger, I Ruczinski, JB Hetmanski, ... Nature genetics 42 (6), 525-529, 2010 | 675 | 2010 |
Genetics of cleft lip and cleft palate EJ Leslie, ML Marazita American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2013 | 542 | 2013 |
Genome-wide mapping of global-to-local genetic effects on human facial shape P Claes, J Roosenboom, JD White, T Swigut, D Sero, J Li, MK Lee, ... Nature genetics 50 (3), 414-423, 2018 | 239 | 2018 |
Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development M Peyrard-Janvid, EJ Leslie, YA Kousa, TL Smith, M Dunnwald, ... The American Journal of Human Genetics 94 (1), 23-32, 2014 | 229 | 2014 |
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 EJ Leslie, JC Carlson, JR Shaffer, E Feingold, G Wehby, CA Laurie, ... Human molecular genetics 25 (13), 2862-2872, 2016 | 211 | 2016 |
Genetic factors influencing risk to orofacial clefts: today’s challenges and tomorrow’s opportunities TH Beaty, ML Marazita, EJ Leslie F1000Research 5, 2016 | 199 | 2016 |
Genome-wide association study reveals multiple loci influencing normal human facial morphology JR Shaffer, E Orlova, MK Lee, EJ Leslie, ZD Raffensperger, CL Heike, ... PLoS genetics 12 (8), e1006149, 2016 | 196 | 2016 |
Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or … EJ Leslie, JC Carlson, JR Shaffer, A Butali, CJ Buxó, EE Castilla, ... Human genetics 136, 275-286, 2017 | 174 | 2017 |
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 EJ Leslie, MA Taub, H Liu, KM Steinberg, DC Koboldt, Q Zhang, ... The American Journal of Human Genetics 96 (3), 397-411, 2015 | 173 | 2015 |
A genome-wide association study of nonsyndromic cleft palate identifies an etiologic missense variant in GRHL3 EJ Leslie, H Liu, JC Carlson, JR Shaffer, E Feingold, G Wehby, CA Laurie, ... The American Journal of Human Genetics 98 (4), 744-754, 2016 | 158 | 2016 |
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 … EJ Leslie, MA Mansilla, LC Biggs, K Schuette, S Bullard, M Cooper, ... Birth Defects Research Part A: Clinical and Molecular Teratology 94 (11 …, 2012 | 104 | 2012 |
Genome-Wide Association Studies in Dogs and Humans Identify ADAMTS20 as a Risk Variant for Cleft Lip and Palate ZT Wolf, HA Brand, JR Shaffer, EJ Leslie, B Arzi, CE Willet, TC Cox, ... PLoS genetics 11 (3), e1005059, 2015 | 93 | 2015 |
Caries experience differs between females and males across age groups in Northern Appalachia JR Shaffer, EJ Leslie, E Feingold, M Govil, DW McNeil, RJ Crout, ... International journal of dentistry 2015 (1), 938213, 2015 | 92 | 2015 |
Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2 MK Lee, JR Shaffer, EJ Leslie, E Orlova, JC Carlson, E Feingold, ... PloS one 12 (4), e0176566, 2017 | 91 | 2017 |
Replication of Genome Wide Association Identified Candidate Genes Confirm the Role of Common and Rare Variants in PAX7 and VAX1 in the Etiology of … A Butali, S Suzuki, ME Cooper, AM Mansilla, K Cuenco, EJ Leslie, ... American Journal of Medical Genetics Part A 161 (5), 965-972, 2013 | 77 | 2013 |
An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects WD Fakhouri, F Rahimov, C Attanasio, EN Kouwenhoven, ... Human molecular genetics 23 (10), 2711-2720, 2014 | 73 | 2014 |
Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases EJ Leslie, J Standley, J Compton, S Bale, BC Schutte, JC Murray Genetics in Medicine 15 (5), 338-344, 2013 | 70 | 2013 |
Sonic hedgehog regulation of Foxf2 promotes cranial neural crest mesenchyme proliferation and is disrupted in cleft lip morphogenesis JL Everson, DM Fink, JW Yoon, EJ Leslie, HW Kietzman, ... Development 144 (11), 2082-2091, 2017 | 65 | 2017 |
IRF6 mutation screening in non‐syndromic orofacial clefting: analysis of 1521 families EJ Leslie, DC Koboldt, CJ Kang, L Ma, JT Hecht, GL Wehby, ... Clinical genetics 90 (1), 28-34, 2016 | 62 | 2016 |
Genome-wide enrichment of de novo coding mutations in orofacial cleft trios MR Bishop, KKD Perez, M Sun, S Ho, P Chopra, N Mukhopadhyay, ... The American Journal of Human Genetics 107 (1), 124-136, 2020 | 61 | 2020 |