Evidence map›Paper›PMID 40076698›Full record

ArticleInternational journal of molecular sciences2025

Genetic Variants Associated with Suspected Neonatal Hypoxic Ischaemic Encephalopathy: A Study in a South African Context.

Caroline J Foden, Kevin Durant, Juanita Mellet, Fourie Joubert, Jeanne van Rensburg, Khomotso Masemola, Sithembiso C Velaphi, Firdose L Nakwa, Alan R Horn, Shakti Pillay and 7 more

Abstract read
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In one paragraph

Article in International journal of molecular sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
–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

5 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. 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

17 authors.

Caroline J FodenInstitute for Cellular and Molecular Medicine, Faculty of Health Sciences, University of Pretoria, Pretoria 0084, South Africa.ORCID 0009-0009-4542-1750
Kevin DurantBixBio Limited, Cape Town 8001, South Africa.
Juanita MelletInstitute for Cellular and Molecular Medicine, Faculty of Health Sciences, University of Pretoria, Pretoria 0084, South Africa.ORCID 0000-0002-0109-9853
Fourie JoubertCentre for Bioinformatics and Computational Biology, Genomics Research Institute, Department of Biochemistry, Genetics, and Microbiology, University of Pretoria, Pretoria 0002, South Africa.ORCID 0000-0003-4998-7531
Jeanne van RensburgInstitute for Cellular and Molecular Medicine, Faculty of Health Sciences, University of Pretoria, Pretoria 0084, South Africa.ORCID 0000-0002-3224-0071
Khomotso MasemolaDepartment of Paediatrics and Child Health, Kalafong Hospital and Faculty of Health Sciences, University of Pretoria, Pretoria 0084, South Africa.
Sithembiso C VelaphiDepartment of Paediatrics and Child Health, Chris Hani Baragwanath Academic Hospital, School of Clinical Medicine, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg 2193, South Africa.
Firdose L NakwaDepartment of Paediatrics and Child Health, Chris Hani Baragwanath Academic Hospital, School of Clinical Medicine, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg 2193, South Africa.
Alan R HornDivision of Neonatal Medicine, Department of Paediatrics and Child Health, Groote Schuur Hospital, University of Cape Town, Cape Town 7701, South Africa.ORCID 0000-0001-7795-4900
Shakti PillayDivision of Neonatal Medicine, Department of Paediatrics and Child Health, Groote Schuur Hospital, University of Cape Town, Cape Town 7701, South Africa.
Gugu KaliTygerberg Hospital Neonatal Unit, Department of Paediatrics and Child Health, Stellenbosch University, Cape Town 7600, South Africa.ORCID 0000-0002-1426-1207
Melantha CoetzeeDivision of Neonatology, Department of Paediatrics and Child Health, Steve Biko Academic Hospital, Faculty of Health Sciences, University of Pretoria, Pretoria 0084, South Africa.
Daynia E BallotDepartment of Paediatrics and Child Health, Charlotte Maxeke Johannesburg Academic Hospital, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg 2193, South Africa.
Thumbiko KaluaInstitute for Cellular and Molecular Medicine, Faculty of Health Sciences, University of Pretoria, Pretoria 0084, South Africa.
Carina BabboInstitute for Cellular and Molecular Medicine, Faculty of Health Sciences, University of Pretoria, Pretoria 0084, South Africa.
Michael S PepperInstitute for Cellular and Molecular Medicine, Faculty of Health Sciences, University of Pretoria, Pretoria 0084, South Africa.ORCID 0000-0001-6406-2380
NESHIE Working Group

Funding

Bill and Melinda Gates Foundation INV-022216 and INV-041062Gates Foundation INV-022216Gates Foundation INV-041062South African Medical Research Council GIPD 96783
6 · The paper itself

Abstract

Neonatal encephalopathy suspected to be due to hypoxic ischaemic encephalopathy (NESHIE) carries the risk of death or severe disability (cognitive defects and cerebral palsy). Previous genetic studies on NESHIE have predominantly focused on exomes or targeted genes. The objective of this study was to identify genetic variants associated with moderate-severe NESHIE through whole-genome, unbiased analysis. Variant filtering and prioritization were performed, followed by association testing both on a case-control basis and to compare the grades of severity and/or progression. Association testing on neonates with NESHIE (N = 172) and ancestry-matched controls (N = 288) produced 71 significant genetic variants (false discovery rate corrected

Indexed as

Genetic Predisposition to DiseaseGenetic VariationHypoxia-Ischemia, BrainCase-Control StudiesFemaleGenome-Wide Association StudyHumansInfant, NewbornMalePolymorphism, Single NucleotideSouth AfricaUbiquitin-Protein LigasesUbiquitin-Protein Ligasesgenetic variantshypoxic ischaemic encephalopathywhole genome

Identifiers

PMID40076698
PMCPMC11900005

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.