Evidence map›Paper›PMID 41891029›Full record

ArticlemedRxiv : the preprint server for health sciences2026

Trio-based GWAS reveals novel loci associated with different forms of isolated cleft lip.

Noah Herrick, Zeynep Erdogan-Yildirim, Myoung Keun Lee, Sarah W Curtis, Seth Berke, Grace Brewer, Toby McHenry, Ahmed M El Sergani, Joel Anderton, Nandita Mukhopadhyay and 16 more

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In one paragraph

Article in medRxiv : the preprint server for health sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

26 authors.

Noah HerrickCenter for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA, USA.ORCID 0009-0004-3251-8311
Zeynep Erdogan-YildirimCenter for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA, USA.
Myoung Keun LeeCenter for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA, USA.
Sarah W CurtisDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Seth BerkeLewis-Sigler Institute for Integrative Genomics, Princeton University, Princeton, NJ, USA.
Grace BrewerDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Toby McHenryCenter for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA, USA.
Ahmed M El SerganiCenter for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA, USA.
Joel AndertonCenter for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA, USA.
Nandita MukhopadhyayCenter for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA, USA.
Jenna C CarlsonDepartment of Biostatistics, University of Pittsburgh, Pittsburgh, PA, USA.
Terri BeatyDepartment of Epidemiology, Johns Hopkins University, Baltimore, MD, USA.
Azeez ButaliDepartment of Oral Pathology, Radiology, & Medicine, College of Dentistry, University of Iowa, Iowa City, IA, USA.
Carmen J Buxo-MartinezSchool of Dental Medicine, University of Puerto Rico, San Juan, USA.
Jacqueline T HechtDepartment of Pediatrics and Pediatric Research Center, University of Texas Medical School, Houston, TX, USA.
Eric LiaoDivision of Plastic, Reconstructive, and Oral Surgery, Children's Hospital of Philadelphia, Philadelphia, PA.
Lina M Moreno UribeDepartment of Orthodontics, College of Dentistry, University of Iowa, Iowa City, IA, USA.
Carmencita D PadillaDepartment of Pediatrics, College of Medicine, University of the Philippines, Manila, Philippines.
George WehbyDepartment of Health Management and Policy, College of Public Health, University of Iowa, Iowa City, IA, USA.
Eleanor FeingoldDepartment of Statistics, College of Science, Oregon State University, Corvallis, OR, USA.
Jeffrey C MurrayDepartment of Pediatrics, School of Medicine, University of Iowa, Iowa City, IA, USA.
Ingo RuczinskiDepartment of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD, USA.
Elizabeth J Leslie-ClarksonDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Seth M WeinbergDepartment of Biomedical Sciences, Adams School of Dentistry, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
John R ShafferCenter for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA, USA.
Mary L MarazitaCenter for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA, USA.

Funding

Extending the Phenotype of Nonsyndromic Orofacial CleftsR01DE016148 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI MARAZITA, MARY L., WEINBERG, SETH M · 2004 to 2018
$19.7M
Genomic Risk Variants in Orofacial Clefting: Discovery and Functional ValidationR01DE032319 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI Mary L. Marazita, Stephen A Murray · 2023 to 2026
$2.8M
Genetic modifiers of Van der Woude syndromeR01DE028342 · NIDCR · EMORY UNIVERSITY · PI LESLIE-CLARKSON, ELIZABETH JANE · 2019 to 2023
$2.7M
Genetics Predoctoral Training ProgramT32GM149422 · NIGMS · EMORY UNIVERSITY · PI TAMARA J. CASPARY · 2023 to 2026
$2.2M
Investigating the role of genes, maternal exposures, and interactions on orofacial cleftsR01DE032122 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI SHAFFER, JOHN R · 2022 to 2024
$2.1M
Pittsburgh Craniofacial Sciences Training ProgramT90DE030853 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI CHARLES SFEIR · 2022 to 2026
$1.8M
MOLECULAR GENETIC EPIDEMIOLOGY OF CLEFT LIP AND PALATER01DE008559 · NIDCR · UNIVERSITY OF IOWA · PI MURRAY, JEFFREY C · 1988 to 2003
$1.5M
Differences between the sexes among genetic variants affecting orofacial cleft birth defect riskR01DE031855 · NIDCR · JOHNS HOPKINS UNIVERSITY · PI MARAZITA, MARY L., RUCZINSKI, INGO · 2022 to 2025
$1.2M
High-Throughput Computing for Genomics and Bioinformatics ResearchS10OD028483 · OD · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI LEE, ADRIAN V · 2021 to 2021
$574k
Identification of Rare Variants for Orofacial Clefts Using Publicly Available DatasetsR03DE035068 · NIDCR · UNIVERSITY OF IOWA · PI BUTALI, AZEEZ · 2025 to 2025
$296k
NIDCR NIH HHS R01 DE008559NIDCR NIH HHS R01 DE016148NIDCR NIH HHS R01 DE028342NIDCR NIH HHS R01 DE031855NIDCR NIH HHS R01 DE032122NIDCR NIH HHS R01 DE032319NIDCR NIH HHS R03 DE035068NIDCR NIH HHS T90 DE030853NIGMS NIH HHS T32 GM149422NIH HHS S10 OD028483
6 · The paper itself

Abstract

Orofacial clefts (OFCs) are the most common craniofacial birth defect and comprise a diverse group of traits with complex and heterogeneous etiologies. Genetic studies of OFCs typically approach this diversity by stratifying cases into broad diagnostic classes, including cleft lip (CL), cleft palate (CP), and cleft lip with palate (CLP). Although this strategy has yielded important insights into OFC risk, it ignores the phenotypic heterogeneity within each subtype. CL exhibits marked phenotypic variability, involving differences in alveolar involvement, laterality, and sidedness that may reflect distinct etiologies. Given this phenotypic diversity within CL, we assembled a multi-ancestry cohort of 837 nonsyndromic CL case-parent trios with whole-genome sequencing and detailed phenotyping. We performed genome-wide association scans (GWAS) via transmission disequilibrium tests for CL overall and for 14 CL subtypes defined by involvement of the alveolus (with and without), laterality (uni- and bilateral), and sidedness (left and right). We identified four genome-wide significant loci. Two loci,

Indexed as

Alveolus CleftCleft LipGabriella Miller Kids FirstGenetic ModifierLeft Unilateral CleftTrio-based GWAS

Identifiers

PMID41891029
PMCPMC13015659

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.