Evidence map›Paper›PMID 42539127›Full record

ArticleResearch square2026

Uniparental Disomy Reveals Hidden Genetic Causes of Congenital Heart Disease.

Nahyun Kong, Javier Abello, Christopher Jongsoo Yoon, Andrew Ruttenberg, Zefan Li, Jahmiera Richee, Sarah Colijn, Kevin M Bowling, Matheus Vernet Machado Bressan Wilke, Weilai Dong and 33 more

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Article in Research square, 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

43 authors.

Nahyun KongDepartment of Genetics, Washington University School of Medicine, St. Louis, MO, USA.
Javier AbelloDepartment of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, MO, USA.
Christopher Jongsoo YoonDepartment of Medicine, Washington University School of Medicine, St. Louis, MO, USA.
Andrew RuttenbergDepartment of Genetics, Washington University School of Medicine, St. Louis, MO, USA.
Zefan LiDepartment of Genetics, Washington University School of Medicine, St. Louis, MO, USA.ORCID 0009-0000-7509-1910
Jahmiera RicheeDepartment of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, MO, USA.ORCID 0009-0000-7729-5511
Sarah ColijnDepartment of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, MO, USA.ORCID 0000-0003-3419-9970
Kevin M BowlingDepartment of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO, USA.
Matheus Vernet Machado Bressan WilkeDepartment of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO, USA.
Weilai DongLaboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA.ORCID 0000-0002-8376-1758
Kenneth NgDepartment of Genetics, Yale University School of Medicine, New Haven, CT, USA.
Elvisa MehinovicDepartment of Genetics, Washington University School of Medicine, St. Louis, MO, USA.
Purva PatelDepartment of Genetics, Washington University School of Medicine, St. Louis, MO, USA.
Steven R DePalmaDepartment of Genetics, Harvard Medical School, Boston, MA, USA.ORCID 0000-0002-0381-5016
Yung-Chun WangDepartment of Genetics, Washington University School of Medicine, St. Louis, MO, USA.
Tharaka Darshana WijerathneDepartment of Biomedical Sciences, Western University of Health Sciences, Pomona, CA.
Jerome J LacroixDepartment of Biomedical Sciences, Western University of Health Sciences, Pomona, CA.ORCID 0000-0001-5687-0652
Yonghui ZhaoDepartment of Cardiology, Washington University School of Medicine, St. Louis, MO, USA.
Rajan SahDepartment of Cardiology, Washington University School of Medicine, St. Louis, MO, USA.ORCID 0000-0003-1092-1244
Jamison L NourseDepartment of Physiology and Biophysics, University of California, Irvine, CA.
Medha PathakDepartment of Physiology and Biophysics, University of California, Irvine, CA.ORCID 0000-0002-6518-3085
Jessica EnsingDepartment of Cell Biology; Van Andel Research Institute, Grand Rapids, MI.
Stephanie GraingerDepartment of Cell Biology; Van Andel Research Institute, Grand Rapids, MI.
H Joseph YostSenior Vice Provost for Research, The Catholic University of America, Washington, DC, USA.ORCID 0000-0003-2961-5669
Martin Tristani-FirouziDivision of Pediatric Cardiology, University of Utah, Salt Lake City, UT, USA.ORCID 0000-0001-5916-442X
Michael WagnerDivisions of Biomedical Informatics and of Biostatistics and Epidemiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Nicholas J OllberdingDivisions of Biomedical Informatics and of Biostatistics and Epidemiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Jonathan SeidmanDepartment of Genetics, Harvard Medical School, Boston, MA, USA.ORCID 0000-0002-9082-3566
Sarah U MortonDivision of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston MA, USA.ORCID 0000-0002-7816-2646
Bruce D GelbMindich Child Health and Development Institute and Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0001-8527-5027
Wendy K ChungDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.ORCID 0000-0003-3438-5685
Richard P LiftonLaboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA.
Yidan SunDepartment of Genetics, Washington University School of Medicine, St. Louis, MO, USA.ORCID 0000-0003-4019-8077
John R EdwardsCenter for Pharmacogenomics, Department of Medicine, Washington University School of Medicine, St. Louis, MO, USA.
Susan DutcherDepartment of Genetics, Washington University School of Medicine, St. Louis, MO, USA.ORCID 0000-0001-5689-5753
Christine E SeidmanDepartment of Genetics, Harvard Medical School, Boston, MA, USA.ORCID 0000-0001-6380-1209
Obi L GriffithDepartment of Medicine, Washington University School of Medicine, St. Louis, MO, USA.ORCID 0000-0002-0843-4271
Malachi GriffithDepartment of Medicine, Washington University School of Medicine, St. Louis, MO, USA.ORCID 0000-0002-6388-446X
Tim SchedlDepartment of Genetics, Washington University School of Medicine, St. Louis, MO, USA.
Monkol LekDepartment of Genetics, Yale University School of Medicine, New Haven, CT, USA.ORCID 0000-0003-1227-6293
Martina BruecknerDepartment of Genetics, Yale University School of Medicine, New Haven, CT, USA.ORCID 0000-0003-0347-5389
Amber N StratmanDepartment of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, MO, USA.ORCID 0000-0002-8111-4186
Sheng Chih JinDepartment of Genetics, Washington University School of Medicine, St. Louis, MO, USA.ORCID 0000-0002-5777-7262

Funding

Mechanosensitive mechanisms regulating cellular coordination during tissue morphogenesis and patterningR35GM137976 · NIGMS · WASHINGTON UNIVERSITY · PI STRATMAN, AMBER NICOLE · 2020 to 2024
$2.4M
Molecular and cellular characterization of congenital hydrocephalusR01NS131610 · NINDS · WASHINGTON UNIVERSITY · PI Sheng Chih Jin · 2024 to 2026
$1.3M
Integration of RNA and Genome Sequences to Identify Genetic Risk in Hypoplastic Left Heart SyndromeK08HL157653 · NHLBI · BOSTON CHILDREN'S HOSPITAL · PI Sarah Uhler Morton · 2022 to 2026
$840k
Primary cilia as regulators of vascular stability during embryonic developmentK99HL171944 · NHLBI · WASHINGTON UNIVERSITY · PI WILSON-COLIJN, SARAH ANN · 2024 to 2025
$217k
Tracing the timing of monozygotic twinning using somatic mutations.F30HD106744 · NICHD · WASHINGTON UNIVERSITY · PI YOON, CHRISTOPHER JONGSOO · 2022 to 2023
$85k
NHLBI NIH HHS K08 HL157653NHLBI NIH HHS K99 HL171944NICHD NIH HHS F30 HD106744NIGMS NIH HHS R35 GM137976NINDS NIH HHS R01 NS131610
6 · The paper itself

Abstract

Congenital heart disease (CHD) affects ~1% of live births, yet the genetic basis of many cases remains unresolved. Uniparental disomy (UPD), the inheritance of both homologous chromosomes from one parent, is often overlooked. We developed TrioMix-UPD, an integrated short- and long-read sequencing framework for UPD detection and classification. Applying it to 3,740 CHD trios, we identified 12 UPD events, representing a 6.57-fold enrichment relative to the general population. Both advanced maternal age and enrichment of rare inherited variants in synaptonemal complex genes implicated meiotic chromosome segregation defects in UPD risk. Within UPD regions, we identified pathogenic homozygous variants in

Identifiers

PMID42539127
PMCPMC13419627

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