Evidence map›Paper›PMID 42059179›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2026

Evidence-based classification of genes implicated in craniosynostosis disorders using the ClinGen curation framework.

Enyonam Y A Edoh, Chloe Mighton, Eleanor C Broeren, Vanessa N Gitau, Julie Ratliff, Marina T DiStefano, Sandra Gadalla, Amanda Girod, Madeline Y Hughes, Hannah McCurry and 12 more

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Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2026. 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

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

22 authors.

Enyonam Y A EdohProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.
Chloe MightonProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.
Eleanor C BroerenProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.
Vanessa N GitauProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.
Julie RatliffProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.
Marina T DiStefanoProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.
Sandra GadallaOffice of Sustainability, University of California, Riverside, Riverside, CA.
Amanda GirodProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.
Madeline Y HughesProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.
Hannah McCurryProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.
Mayher J PatelProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.
Emma H WilcoxProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.
Moosa MohammadiNYU Langone Medical Center, New York, NY.
Cate R PaschalDepartment of Laboratory Medicine, Seattle Children's Hospital, Seattle, WA; University of Washington, Seattle, WA.
Elaine SpectorUniversity of Colorado, Anschutz Medical School, Denver, CO.
Andrew O M WilkieMRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom.
Elaine ZackaiDepartment of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
Yuri A ZarateSection of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR; Division of Genetics and Metabolism, University of Kentucky, Lexington, KY.
John M GrahamDepartment of Pediatrics, Guerin Children's at Cedars-Sinai Medical Center, Los Angeles, CA.
Ethylin Wang JabsDepartment of Clinical Genomics, Mayo Clinic, Rochester, MN.
Pedro A Sanchez-LaraDepartment of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA; Department of Pediatrics, Guerin Children's at Cedars-Sinai Medical Center, Los Angeles, CA. Electronic address: sanchezp@chop.edu.
ClinGen Craniofacial Malformations Gene Curation Expert Panel

Funding

Resource ProjectU41HG006834 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI REHM, HEIDI L · 2013 to 2020
$26.9M
ClinGen AI Data Delivery SupplementU24HG006834 · NHGRI · BROAD INSTITUTE, INC. · PI Marina DiStefano, CHRISTA LESE MARTIN · 2021 to 2026
$26.7M
NHGRI NIH HHS U24 HG006834NHGRI NIH HHS U41 HG006834
6 · The paper itself

Abstract

purposeThe Clinical Genome Resource Craniofacial Malformations Gene Curation Expert Panel (Cranio GCEP) was formed in 2020 with an initial target of evaluating genes implicated in craniosynostosis and skull abnormalities. The current work summarizes the findings of the Cranio GCEP during its first round of curation and aims to provide expert guidance on the clinical validity of gene-disease relationships in the context of craniofacial malformations.

methodsThe curation scope of the GCEP was separated into multiple rounds based on the frequency of occurrence and the uniqueness of associated features. Twelve genes (EFNB1, ERF, FGFR1, FGFR2, FGFR3, MEGF8, MSX2, POR, RAB23, SKI, TCF12, and TWIST1) were selected based on literature review, multi-gene sequencing panels from the Genetic Testing Registry, and expert input.

resultsOn average, there were 2 disease relationships per gene, ranging from 1 to 6. In total, the Cranio GCEP curated 23 gene-disease pairs. Of these curations, 17 (74%) were classified as definitive, 3 (13%) as moderate, and 3 (13%) as limited.

conclusionThe classification of gene-disease relationships in round one curation of the Cranio GCEP has contributed to systematically evaluating the validity of gene-disease relationships for craniofacial malformations, to establish accurate testing panels, and improve patient care. By bringing together content experts to focus on gene curation, the Cranio GCEP facilitates education, fosters new collaborations, and encourages the publication of clinical cases involving previously discovered genes, reflecting the broadening spectrum of gene-disease relationships in the craniofacial malformation and craniosynostosis literature.

Indexed as

CraniosynostosesDatabases, GeneticGenetic Predisposition to DiseaseGenetic TestingHumansClinGenCraniofacial malformationsCraniosynostosisGene-disease validityGenomic medicine

Identifiers

PMID42059179
PMCPMC13334497

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