Evidence map›Paper›PMID 40666329›Full record

ArticlemedRxiv : the preprint server for health sciences2025

Domain specific phenotypic expansion associated with variants in

Nikhita Gogate, Angad Jolly, Jill A Rosenfeld, Paulina Bahena-Carbajal, Jonathan A Bernstein, Devon Bonner, Tiffany Busa, Ingrid Cristian, Precilla D'Souza, Jennifer Friedman and 21 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. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Article
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

31 authors.

Nikhita GogateDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.ORCID 0000-0003-2050-5084
Angad JollyDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Jill A RosenfeldDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Paulina Bahena-CarbajalInstitute of Human Genetics, University of Würzburg, Würzburg, Germany.
Jonathan A BernsteinDepartment of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.
Devon BonnerCenter for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.
Tiffany BusaDepartment of Medical Genetics, Timone Children's Hospital, APHM, Marseille, 13005, France.
Ingrid CristianDivision of Genetics, Arnold Palmer Hospital for Children - Orlando Health, Orlando, Florida, USA.
Precilla D'SouzaUndiagnosed Diseases Program, National Human Genome Research Institute, Bethesda, MD, USA.
Jennifer FriedmanDepartments of Neurosciences and Pediatrics, University of California San Diego, San Diego, California, USA.
Svetlana GorokhovaDepartment of Medical Genetics, Timone Children's Hospital, APHM, Marseille, 13005, France.
Thomas HaafInstitute of Human Genetics, University of Würzburg, Würzburg, Germany.
Isabella HermanBoys Town National Research Hospital, Boys Town, NE, USA.
Ugur Ufuk IsinUniversity of Health Sciences Türkiye, Atatürk Sanatorium Training and Research Hospital, Clinic of Pediatrics, Ankara, Türkiye.
Shalini N JhangianiHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.
Ivy JohnsonBoys Town National Research Hospital, Boys Town, NE, USA.
Jerica LenbergRady Children's Institute of Genomic Medicine, San Diego, California, USA.
Ellen F MacnamaraUndiagnosed Diseases Program, National Human Genome Research Institute, Bethesda, MD, USA.
Reza MaroofianDepartment of Neuromuscular Diseases, University College London Queen Square Institute of Neurology, London WC1N 3BG, UK.
Undiagnosed Diseases Network, Melissa Racobaldo
Olivia L RedlichGeneDx, LLC, Gaithersburg, MD 20877, USA.
Cynthia TifftUndiagnosed Diseases Program, National Human Genome Research Institute, Bethesda, MD, USA.
Tulay TosDepartment of Medical Genetics, Sami Ulus Children's Hospital, Ankara 06080, Turkey.
Barbara VonaInstitute of Human Genetics, University of Würzburg, Würzburg, Germany.
Regina M ZambranoDivision of Genetics, Department of Pediatrics, Louisiana State University Health Science Center, USA.
Ingrid M WentzensenGeneDx, LLC, Gaithersburg, MD 20877, USA.
Kristen WigbyRady Children's Institute of Genomic Medicine, San Diego, California, USA.
Davut PehlivanDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Richard A GibbsDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
James R LupskiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Jennifer E PoseyDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.

Funding

The Human Genome Sequencing CenterU54HG003273 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2004 to 2015
$341.3M
Baylor-Johns Hopkins Center for Mendelian GeneticsUM1HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2016 to 2020
$14.5M
Frequency of variants of unknown significance by ancestry groups in the All of Us Research Program cohortU01HG011758 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI RICHARD A GIBBS, JAMES R. LUPSKI · 2021 to 2026
$13.8M
Clinical Sequencing Core Facility for the Undiagnosed Diseases Network (UDN)U01HG007942 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI ENG, CHRISTINE · 2014 to 2021
$10.2M
Stanford Center for Undiagnosed DiseasesU01HG007708 · NHGRI · STANFORD UNIVERSITY · PI ASHLEY, EUAN A, BERNSTEIN, JONATHAN ADAM · 2014 to 2018
$8.0M
Comprehensive Deep Phenotyping and Multi-omics to Develop Clinical and Molecular Biomarkers for MeCP2-related DiseasesK23NS125126 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI Davut Pehlivan · 2022 to 2026
$1.1M
NHGRI NIH HHS U01 HG007708NHGRI NIH HHS U01 HG007942NHGRI NIH HHS U01 HG011758NHGRI NIH HHS U54 HG003273NHGRI NIH HHS UM1 HG006542NINDS NIH HHS K23 NS125126
6 · The paper itself

Abstract

Purpose: While heterozygous Methods: Through collaborative efforts, we assembled a cohort of 10 affected individuals from 8 unrelated families with either biallelic or monoallelic non-GAR domain Results: Clustering revealed two distinct phenotypic signatures, suggesting domain-specific effects. Variants outside the GAR domain associate with broader neurodevelopmental phenotypes and variable craniofacial and skeletal expressivity. Additionally, enrichment analysis (p < 0.001) using OMIM HPO sets supported these findings. In contrast to the GAR domain's strong correlation with lissencephaly and brainstem malformations, biallelic non-GAR domain Conclusion: These results expand the phenotypic spectrum of

Indexed as

Actin-microtubule cross-linkingDomain-specific phenotypesGAR domainLissencephalyMACF1 variantsNeurodevelopmental disorderPhenotypic variability

Identifiers

PMID40666329
PMCPMC12262753

What OpenQuestion holds

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Registered trials

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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.