Evidence map›Paper›PMID 42633081›Full record

ArticleHuman mutation2026

Multiomic Investigation of Shared Genetic Pathways in Paediatric Congenital Heart Disease and Neurodevelopmental Disorders.

Jamie-Lee M Thompson, Yunkai Gao, Eri Iwasawa, Debjani Das, Emma Rath, Michael Troup, David T Humphreys, Haleh Heydarian, Julia Anixt, Nadine A Kasparian and 9 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human mutation, 2026. 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

19 authors.

Jamie-Lee M ThompsonVictor Chang Cardiac Research Institute, Sydney, Australia, victorchang.edu.au.ORCID https://orcid.org/0000-0003-3015-0854
Yunkai GaoVictor Chang Cardiac Research Institute, Sydney, Australia, victorchang.edu.au.
Eri IwasawaCincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA, uc.edu.
Debjani DasVictor Chang Cardiac Research Institute, Sydney, Australia, victorchang.edu.au.
Emma RathVictor Chang Cardiac Research Institute, Sydney, Australia, victorchang.edu.au.
Michael TroupVictor Chang Cardiac Research Institute, Sydney, Australia, victorchang.edu.au.
David T HumphreysVictor Chang Cardiac Research Institute, Sydney, Australia, victorchang.edu.au.
Haleh HeydarianCincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA, uc.edu.
Julia AnixtCincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA, uc.edu.
Nadine A KasparianHeart and Mind Wellbeing Center, Heart Institute and Division of Behavioral Medicine and Clinical Psychology, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA, uc.edu.
Tanya E FroehlichCincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA, uc.edu.
Jason TchieuCincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA, uc.edu.
K Nicole WeaverCincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA, uc.edu.
Congenital Heart Disease Synergy Study GroupVictor Chang Cardiac Research Institute, Sydney, Australia, victorchang.edu.au.
Edwin P KirkSchool of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, Australia, unsw.edu.au.
Russell DaleThe Children's Hospital at Westmead, University of Sydney, Sydney, Australia, sydney.edu.au.ORCID https://orcid.org/0000-0002-2495-1826
Sally L DunwoodieVictor Chang Cardiac Research Institute, Sydney, Australia, victorchang.edu.au.
David S WinlawHeart Center, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.ORCID https://orcid.org/0000-0001-8005-3361
Eleni GiannoulatouVictor Chang Cardiac Research Institute, Sydney, Australia, victorchang.edu.au.ORCID https://orcid.org/0000-0002-7084-6736

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Recent medical advances have significantly improved the life expectancy of individuals with congenital heart disease (CHD); however, these children remain at increased risk of co-occurring neurodevelopmental disorders (NDD), such as attention-deficit/hyperactivity disorder and autism spectrum disorder. Although prenatal environmental factors, including placental dysfunction and altered oxygen levels in utero, as well as postnatal events such as cardiac surgery, may contribute to this increased risk, shared genetic factors may also underlie both conditions. Therefore, this study is aimed at investigating genomic, transcriptomic and epigenomic findings in patients with NDD and/or CHD using an integrative multiomic approach. A cohort of 14 trios and one duo was recruited: Two probands had both NDD and CHD, two had CHD only and 11 had NDD only. Blood samples were analysed using whole-genome sequencing, RNA sequencing and DNA methylation profiling. We identified one large deletion (~2.5 Mb) and seven likely pathogenic/pathogenic (LP/P) variants, including two in autosomal dominant genes relevant to the patients' phenotypes and five in autosomal recessive genes consistent with carrier status. This included a likely pathogenic de novo splice-disrupting variant in the chromatin remodelling gene

Indexed as

Heart Defects, CongenitalNeurodevelopmental DisordersChildChild, PreschoolDNA MethylationEpigenesis, GeneticEpigenomicsFemaleGenetic Predisposition to DiseaseGenomicsHumansInfantMaleMultiomicsWhole Genome Sequencing

Identifiers

PMID42633081
PMCPMC13498852

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.