ArticleHuman molecular genetics2019
Genomic analyses in African populations identify novel risk loci for cleft palate.
Erratum issuedOpen access · bronzeAbstract read
In one paragraph
Article in Human molecular genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 53 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
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53citing papers in PubMed, 2 pooled it
5.4field-weighted citation impact, top 4% of its field
What it found
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Who cites it
53 citing papers in PubMed, 2 syntheses or guidelines pooled it, 86 citations in OpenAlex.
- Genetic heterogeneity and homogeneity among orofacial cleft subtypes: genome-wide association studies in the cleft collective.Human molecular genetics · 2025Pooled it
- Genome-wide meta-analyses identify five new risk loci for nonsyndromic orofacial clefts in the Chinese Han population.Molecular genetics & genomic medicine · 2023Pooled it
- Advancing genomic medicine in Nigeria: research progress, clinical translation and policy priorities.Journal of community genetics · 2026Review
- Trio-based GWAS reveals loci associated with different forms of isolated cleft lip.HGG advances · 2026Article
- Atlas of cell types and regulatory elements underlying human facial diversity.Nature genetics · 2026Article
- Genetic-epigenetic interactions (meQTLs) in orofacial clefts etiology.Molecular genetics and genomics : MGG · 2026Article
- Trio-based GWAS reveals novel loci associated with different forms of isolated cleft lip.medRxiv : the preprint server for health sciences · 2026Article
- Cherubism: An African-Focused Review.Children (Basel, Switzerland) · 2026Review
- Leveraging the genetics of human face shape boosts the discovery of orofacial cleft risk loci.medRxiv : the preprint server for health sciences · 2026Article
- Whole Genome Sequencing of Discordant Monozygotic Twins Reveals Regulatory Variants Associated With Nonsyndromic Orofacial Clefts.Human mutation · 2026Article
- Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 818 trios.American journal of human genetics · 2025Article
- Genetic-epigenetic interactions (meQTLs) in orofacial clefts etiology.medRxiv : the preprint server for health sciences · 2025Article
- Functional variant at 19q13.3 confers nonsyndromic cleft palate susceptibility by regulatingiScience · 2025Article
- Gene expression patterns of the developing human face at single cell resolution reveal cell type contributions to normal facial variation and disease risk.bioRxiv : the preprint server for biology · 2025Article
- Novel insights into palatal shelf elevation dynamics in normal mouse embryos.Frontiers in cell and developmental biology · 2025Article
- Functional Validation of Noncoding Variants Associated With Nonsyndromic Orofacial Cleft.Human mutation · 2025Review
- High incidence and geographic distribution of cleft palate in Finland are associated with the IRF6 gene.Nature communications · 2024Article
- Genome-wide study of gene-by-sex interactions identifies risks for cleft palate.Human genetics · 2024Article
- Rare variants analyses suggest novel cleft genes in the African population.Scientific reports · 2024Article
- Damaging Mutations inThe Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2024Article
Corrections and comments
- Erratum issued
Authors and funding
71 authors at 20 institutions in 6 countries.
Azeez ButaliDepartment of Oral Pathology, Radiology and Medicine, College of Dentistry, University of Iowa, Iowa, IA, USA.
Peter A MosseyDepartment of Orthodontics, University of Dundee, Dundee, UK.
Wasiu L AdeyemoDepartment of Oral and Maxillofacial Surgery, University of Lagos, Akoka, Lagos, Nigeria.
Mekonen A EsheteSchool of Public Health, Addis Ababa University, Addis Ababa, Ethiopia.
Lord J J GowansKwame Nkrumah University of Science and Technology, Kumasi, Ashanti, Ghana.
Tamara D BuschDepartment of Oral Pathology, Radiology and Medicine, College of Dentistry, University of Iowa, Iowa, IA, USA.
Deepti JainDepartment of Biostatistics, Genetic Analysis Center, University of Washington, Seattle, WA, USA.
Wenjie YuDepartment of Anatomy and Cell Biology, University of Iowa, Iowa, IA, USA.
Liu HuanState Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei-MOST, Ministry of Science and Technology) and Key Laboratory for Oral Biomedicine of Ministry of Education, School and Hospital of Stomatology, Wuhan University, Wuhan, China.
Cecelia A LaurieDepartment of Biostatistics, Genetic Analysis Center, University of Washington, Seattle, WA, USA.
Cathy C LaurieDepartment of Biostatistics, Genetic Analysis Center, University of Washington, Seattle, WA, USA.
Sarah NelsonDepartment of Biostatistics, Genetic Analysis Center, University of Washington, Seattle, WA, USA.
Mary LiDepartment of Oral Pathology, Radiology and Medicine, College of Dentistry, University of Iowa, Iowa, IA, USA.
Pedro A Sanchez-LaraDepartment of Pediatrics, Cedars-Sinai Medical Center, David Geffen School of Medicine at University of California, Los Angeles (UCLA), Los Angeles, CA, USA.
William P MageeDivision of Plastic and Maxillofacial Surgery, Children's Hospital Los Angeles, Los Angeles, CA, USA.
Kathleen S MageeOperation Smile, 3641 Faculty Boulevard, Virginia Beach, VA, USA.
Allyn AuslanderDivision of Plastic and Maxillofacial Surgery, Children's Hospital Los Angeles, Los Angeles, CA, USA.
Frederick BrindopkeDivision of Plastic and Maxillofacial Surgery, Children's Hospital Los Angeles, Los Angeles, CA, USA.
Denise M KayWadsworth Center, New York State Department of Health, Albany, NY, USA.
Michele CagganaWadsworth Center, New York State Department of Health, Albany, NY, USA.
Paul A RomittiDepartment of Epidemiology, College of Public Health, University of Iowa, Iowa, IA, USA.
James L MillsEunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health (NIH), Bethesda, MD, USA.
Rosemary AuduDepartment of Virology, Nigerian Institute of Medical Research, Yaba, Lagos, Nigeria.
Chika OnwuamahDepartment of Virology, Nigerian Institute of Medical Research, Yaba, Lagos, Nigeria.
Ganiyu O OseniDepartment of Plastic Surgery, Ladoke Akintola University of Science and Technology, Osogbo, Oyo, Nigeria.
Arwa OwaisDepartment of Pediatric Dentistry, University of Iowa, Iowa, IA, USA.
Olutayo JamesDepartment of Oral and Maxillofacial Surgery, University of Lagos, Akoka, Lagos, Nigeria.
Peter B OlaitanDepartment of Plastic Surgery, Ladoke Akintola University of Science and Technology, Osogbo, Oyo, Nigeria.
Babatunde S AregbesolaDepartment of Oral and Maxillofacial Surgery, Obafemi Awolowo University, Ile-Ife, Osun, Nigeria.
Ramat O BraimahDepartment of Oral and Maxillofacial Surgery, Usmanu Danfodiyo University Teaching Hospital, Sokoto, Nigeria.
Fadekemi O OginniDepartment of Oral and Maxillofacial Surgery, Obafemi Awolowo University, Ile-Ife, Osun, Nigeria.
Ayodeji O OladeleDepartment of Oral and Maxillofacial Surgery, Obafemi Awolowo University, Ile-Ife, Osun, Nigeria.
Saidu A BelloState House Clinic, Asokoro, Abuja, Nigeria.
Jennifer RhodesVirginia Commonwealth University School of Medicine, Richmond, VA, USA.
Rita ShiangVirginia Commonwealth University School of Medicine, Richmond, VA, USA.
Peter DonkorKwame Nkrumah University of Science and Technology, Kumasi, Ashanti, Ghana.
Solomon Obiri-YeboahKwame Nkrumah University of Science and Technology, Kumasi, Ashanti, Ghana.
Fareed Kow Nanse ArthurKwame Nkrumah University of Science and Technology, Kumasi, Ashanti, Ghana.
Peter TwumasiKwame Nkrumah University of Science and Technology, Kumasi, Ashanti, Ghana.
Pius AgbenorkuKwame Nkrumah University of Science and Technology, Kumasi, Ashanti, Ghana.
Gyikua Plange-RhuleKwame Nkrumah University of Science and Technology, Kumasi, Ashanti, Ghana.
Alexander Acheampong OtiKwame Nkrumah University of Science and Technology, Kumasi, Ashanti, Ghana.
Olugbenga M OgunleweDepartment of Oral and Maxillofacial Surgery, University of Lagos, Akoka, Lagos, Nigeria.
Afisu A OladegaDepartment of Oral and Maxillofacial Surgery, University of Lagos, Akoka, Lagos, Nigeria.
Adegbayi A AdekunleDepartment of Oral and Maxillofacial Surgery, University of Lagos, Akoka, Lagos, Nigeria.
Akinwunmi O ErinosoDepartment of Oral and Maxillofacial Surgery, University of Lagos, Akoka, Lagos, Nigeria.
Olatunbosun O AdamsonDepartment of Oral and Maxillofacial Surgery, University of Lagos, Akoka, Lagos, Nigeria.
Abosede A ElufowojuDepartment of Oral and Maxillofacial Surgery, University of Lagos, Akoka, Lagos, Nigeria.
Oluwanifemi I AyelomiDepartment of Oral and Maxillofacial Surgery, University of Lagos, Akoka, Lagos, Nigeria.
Taiye HailuSchool of Public Health, Addis Ababa University, Addis Ababa, Ethiopia.
Abiye HailuSchool of Public Health, Addis Ababa University, Addis Ababa, Ethiopia.
Yohannes DemissieSchool of Public Health, Addis Ababa University, Addis Ababa, Ethiopia.
Miliard DerebewSchool of Public Health, Addis Ababa University, Addis Ababa, Ethiopia.
Steve EliasonDepartment of Anatomy and Cell Biology, University of Iowa, Iowa, IA, USA.
Miguel Romero-BustillousDepartment of Anatomy and Cell Biology, University of Iowa, Iowa, IA, USA.
Cynthia LoDepartment of Oral Pathology, Radiology and Medicine, College of Dentistry, University of Iowa, Iowa, IA, USA.
James ParkDepartment of Oral Pathology, Radiology and Medicine, College of Dentistry, University of Iowa, Iowa, IA, USA.
Shaan DesaiDepartment of Oral Pathology, Radiology and Medicine, College of Dentistry, University of Iowa, Iowa, IA, USA.
Muiawa MohammedDepartment of Oral Pathology, Radiology and Medicine, College of Dentistry, University of Iowa, Iowa, IA, USA.
Firke AbateSchool of Public Health, Addis Ababa University, Addis Ababa, Ethiopia.
Lukman O Abdur-RahmanDivision of Pediatric Surgery, Department of Surgery, University of Ilorin, Ilorin, Kwara, Nigeria.
Deepti AnandCenter for Bioinformatics and Computational Biology, University of Delaware, Newark, DE, USA.
Irfaan SaadiDepartment of Anatomy and Cell Biology, University of Kansas Medical Center, Kansas, KS, USA.
Abimibola V OladugbaDepartment of Biostatistics, University of Nigeria, Nssuka, Enugu, Nigeria.
Salil A LachkeCenter for Bioinformatics and Computational Biology, University of Delaware, Newark, DE, USA.
Brad A AmendtDepartment of Anatomy and Cell Biology, University of Iowa, Iowa, IA, USA.
Charles N RotimiCenter for Research on Genomics and Global Health, National Human Genome Research Institute, Bethesda, MD, USA.
Mary L MarazitaCenter for Craniofacial and Dental Genetics, Department of Oral Biology, School of Dental Medicine; Department of Human Genetics, Graduate School of Public Health, and Clinical and Translational Sciences, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA.
Robert A CornellDepartment of Anatomy and Cell Biology, University of Iowa, Iowa, IA, USA.
Jeffrey C MurrayDepartment of Pediatrics, University of Iowa, Iowa, IA, USA.
Adebowale A AdeyemoCenter for Research on Genomics and Global Health, National Human Genome Research Institute, Bethesda, MD, USA.
University of Iowa · USUniversity of Lagos · NGKwame Nkrumah University of Science and Technology · GHAddis Ababa University · ETUniversity of Washington · USChildren's Hospital of Los Angeles · USObafemi Awolowo University · NGLadoke Akintola University of Technology · NGNational Human Genome Research Institute · USNew York State Department of Health · USNigerian Institute of Medical Research · NGUniversity of Delaware · USVirginia Commonwealth University · USCedars-Sinai Medical Center · USNational Institutes of Health · USOperation PAR · USUniversity of Dundee · GBUniversity of Ilorin · NGUniversity of Kansas Medical Center · USUniversity of Nigeria · NG
Funding
Genetic epidemiology of complex diseasesZIAHG200362 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI ROTIMI, CHARLES · 2009 to 2025
$54.7MPulmonary Toxicology Facility CoreP30ES005605 · NIEHS · UNIVERSITY OF IOWA · PI HANS-JOACHIM LEHMLER · 1990 to 2026
$40.5MExtending the Phenotype of Nonsyndromic Orofacial CleftsR01DE016148 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI MARAZITA, MARY L., WEINBERG, SETH M · 2004 to 2018
$19.7MMolecular Genetic Epidemiology of Cleft Lip and PalateR37DE008559 · NIDCR · UNIVERSITY OF IOWA · PI MURRAY, JEFFREY C · 2004 to 2013
$6.8MGenetic Factors in Birth DefectsZIAHD008792 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI MILLS, JAMES · 2009 to 2023
$5.0MIowa CBDRP: Component A BD-STEPS II CoreU01DD001223 · DD · UNIVERSITY OF IOWA · PI CONWAY, KRISTIN, ROMITTI, PAUL A · 2018 to 2022
$4.3MDissecting the transcriptional network governing differentiation of peridermR01DE023575 · NIDCR · UNIVERSITY OF WASHINGTON · PI CORNELL, ROBERT AARON, SCHUTTE, BRIAN C · 2013 to 2023
$4.3MIowa CBDRP: Birth Defects Study To Evaluate Pregnancy exposureSU01DD001035 · DD · UNIVERSITY OF IOWA · PI ROMITTI, PAUL A · 2013 to 2017
$3.5MThe Role of SPECC1L cytoskeletal protein in craniofacial development and malformationR01DE026172 · NIDCR · UNIVERSITY OF KANSAS MEDICAL CENTER · PI SAADI, IRFAN · 2016 to 2020
$1.9MMOLECULAR GENETIC EPIDEMIOLOGY OF CLEFT LIP AND PALATER01DE008559 · NIDCR · UNIVERSITY OF IOWA · PI MURRAY, JEFFREY C · 1988 to 2003
$1.5MGenetic studies of nonsyndromic clefts in populations of African Descent.R00DE022378 · NIDCR · UNIVERSITY OF IOWA · PI BUTALI, AZEEZ · 2014 to 2016
$747kDissecting the transcriptional network governing differentiation of peridermR56DE023575 · NIDCR · UNIVERSITY OF IOWA · PI CORNELL, ROBERT AARON · 2018 to 2018
$340kIntramural NIH HHS ZIA HG200362NCBDD CDC HHS U01 DD001035NCBDD CDC HHS U01 DD001223NICHD NIH HHS HHSN275201100001CNICHD NIH HHS HHSN275201100001GNICHD NIH HHS HHSN275201100001INIDCR NIH HHS K99 DE022378NIDCR NIH HHS R00 DE022378NIDCR NIH HHS R01 DE008559NIDCR NIH HHS R01 DE016148NIDCR NIH HHS R01 DE023575NIDCR NIH HHS R01 DE026172NIDCR NIH HHS R37 DE008559NIDCR NIH HHS R56 DE023575NIEHS NIH HHS P30 ES005605
Abstract
Orofacial clefts are common developmental disorders that pose significant clinical, economical and psychological problems. We conducted genome-wide association analyses for cleft palate only (CPO) and cleft lip with or without palate (CL/P) with ~17 million markers in sub-Saharan Africans. After replication and combined analyses, we identified novel loci for CPO at or near genome-wide significance on chromosomes 2 (near CTNNA2) and 19 (near SULT2A1). In situ hybridization of Sult2a1 in mice showed expression of SULT2A1 in mesenchymal cells in palate, palatal rugae and palatal epithelium in the fused palate. The previously reported 8q24 was the most significant locus for CL/P in our study, and we replicated several previously reported loci including PAX7 and VAX1.
Indexed as
Genetics, PopulationGenome, HumanGenomicsQuantitative Trait LociAllelesAnimalsBlack PeopleChromosome MappingCleft PalateDisease Models, AnimalEnhancer Elements, GeneticFemaleGene ExpressionGene FrequencyGenetic Predisposition to DiseaseGenome-Wide Association Study
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