Evidence map›Paper›PMID 39867391›Full record

ArticlemedRxiv : the preprint server for health sciences2025

Rare variants in

Kelsey Robinson, Sunil K Singh, Rachel B Walkup, Dorelle V Fawwal, Wasiu Lanre Adeyemo, Terri H Beaty, Azeez Butali, Carmen J Buxó, Wendy K Chung, David J Cutler and 16 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
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.

Kelsey RobinsonDepartment of Human Genetics, Emory University, Atlanta, GA, USA.
Sunil K SinghDepartment of Oral Health Sciences, University of Washington, Seattle, WA, USA.
Rachel B WalkupDepartment of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI, 53706, USA.
Dorelle V FawwalDepartment of Biology, Emory University, Atlanta, GA 30322, USA.
Wasiu Lanre AdeyemoDepartment of Oral and Maxillofacial Surgery, College of Medicine, University of Lagos, Lagos, Nigeria.
Terri H BeatyDepartment of Epidemiology, Johns Hopkins University, Baltimore, MD, USA.
Azeez ButaliDepartment of Oral Biology, Radiology, and Medicine, University of Iowa, Iowa City, IA, USA.
Carmen J BuxóSchool of Dental Medicine, University of Puerto Rico, San Juan, Puerto Rico, USA.
Wendy K ChungBoston Children's Hospital, Harvard Medical School, Boston, MA, USA.
David J CutlerDepartment of Human Genetics, Emory University, Atlanta, GA, USA.
Michael P EpsteinDepartment of Human Genetics, Emory University, Atlanta, GA, USA.
Azeez FashinaDepartment of Oral Health Sciences, University of Washington, Seattle, WA, USA.
Brooklynn GasserAmbry Genetics, Aliso Viejo, CA, USA.
Lord Jj GowansDepartment of Biochemistry and Biotechnology, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana.
Jacqueline T HechtDepartment of Pediatrics, McGovern Medical School University of Texas Health at Houston, Houston, TX, USA.
Lina Moreno UribeDepartment of Orthodontics & The Iowa Institute for Oral Health Research, University of Iowa, Iowa City, IA, USA.
Daryl A ScottDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Gary M ShawDepartment of Pediatrics, Stanford University, Stanford, CA, USA.
Mary Ann ThomasDepartment of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
Seth M WeinbergCenter for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, and Department of Human Genetics, School of Public Health, University of Pittsburgh, PA, USA.
Harrison BrandCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.
Mary L MarazitaCenter for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, and Department of Human Genetics, School of Public Health, University of Pittsburgh, PA, USA.
Robert J LipinskiDepartment of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI, 53706, USA.
Jeffrey C MurrayDepartment of Pediatrics, University of Iowa, Iowa City, IA, USA.
Robert A CornellDepartment of Oral Health Sciences, University of Washington, Seattle, WA, USA.
Elizabeth J Leslie-ClarksonDepartment of Human Genetics, Emory University, Atlanta, GA, 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
Genetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI SCOTT Loren POMEROY, MUSTAFA SAHIN · 2021 to 2026
$9.4M
Molecular Genetic Epidemiology of Cleft Lip and PalateR37DE008559 · NIDCR · UNIVERSITY OF IOWA · PI MURRAY, JEFFREY C · 2004 to 2013
$6.8M
Dissecting the transcriptional network governing differentiation of peridermR01DE023575 · NIDCR · UNIVERSITY OF WASHINGTON · PI CORNELL, ROBERT AARON, SCHUTTE, BRIAN C · 2013 to 2023
$4.3M
Whole Genome Sequencing for Orofacial Clefts, Incidental Findings and Role of Community GatekeepersR01DE028300 · NIDCR · UNIVERSITY OF IOWA · PI BUTALI, AZEEZ · 2020 to 2024
$3.9M
Genomics of Cleft PalateR01DE030342 · NIDCR · EMORY UNIVERSITY · PI ELIZABETH JANE LESLIE-CLARKSON · 2021 to 2026
$3.5M
Transfer 5R01DE027983 - Genomic and Functional Analysis of IRF6 Target Genes in Orofacial Cleft PathogenesisR01DE027983 · NIDCR · MASSACHUSETTS GENERAL HOSPITAL · PI LIAO, ERIC CHIEN-WEI · 2019 to 2023
$3.3M
Genetic modifiers of Van der Woude syndromeR01DE028342 · NIDCR · EMORY UNIVERSITY · PI LESLIE-CLARKSON, ELIZABETH JANE · 2019 to 2023
$2.7M
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
DNA methylation in orofacial cleftingR01DE032710 · NIDCR · UNIVERSITY OF WISCONSIN-MADISON · PI Robert Lipinski · 2023 to 2026
$1.9M
MOLECULAR GENETIC EPIDEMIOLOGY OF CLEFT LIP AND PALATER01DE008559 · NIDCR · UNIVERSITY OF IOWA · PI MURRAY, JEFFREY C · 1988 to 2003
$1.5M
Identifying novel genetic risks for cleft palate using whole genome sequencingF31DE032588 · NIDCR · EMORY UNIVERSITY · PI WALLACE, KELSEY REBECCA ROBINSON · 2022 to 2023
$89k
NICHD NIH HHS P50 HD105351NIDCR NIH HHS F31 DE032588NIDCR NIH HHS R01 DE008559NIDCR NIH HHS R01 DE016148NIDCR NIH HHS R01 DE023575NIDCR NIH HHS R01 DE027983NIDCR NIH HHS R01 DE028300NIDCR NIH HHS R01 DE028342NIDCR NIH HHS R01 DE030342NIDCR NIH HHS R01 DE032122NIDCR NIH HHS R01 DE032710NIDCR NIH HHS R37 DE008559
6 · The paper itself

Abstract

Van der Woude syndrome (VWS) is an autosomal dominant disorder characterized by lower lip pits and orofacial clefts (OFCs). With a prevalence of approximately 1 in 35,000 live births, it is the most common form of syndromic clefting and may account for ~2% of all OFCs. The majority of VWS is attributed to genetic variants in

Identifiers

PMID39867391
PMCPMC11759255

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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.