Evidence map›Paper›PMID 42650045›Full record

ArticleGenes2026

Further Support for Association of

Odelia Chorin, Yoav Bolkier, Uriel Katz, Yishay Salem, Yair Anikster, Nechama Shalva, Ortal Barel, Moshe Giladi, Rotem Semo-Oz, Dror Ben-Ruby and 6 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 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

16 authors.

Odelia ChorinThe Institute for Rare Diseases, Sheba Medical Center, Ramat Gan 52621, Israel.ORCID 0000-0001-8968-0732
Yoav BolkierGray Faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv 69978, Israel.
Uriel KatzGray Faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv 69978, Israel.ORCID 0000-0002-7136-8027
Yishay SalemGray Faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv 69978, Israel.
Yair AniksterGray Faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv 69978, Israel.
Nechama ShalvaMetabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan 52621, Israel.
Ortal BarelThe Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Ramat Gan 52621, Israel.
Moshe GiladiInternal Medicine D, Tel Aviv Sourasky Medical Center, Tel-Aviv 6423906, Israel.ORCID 0000-0002-8589-6920
Rotem Semo-OzGray Faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv 69978, Israel.
Dror Ben-RubyGray Faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv 69978, Israel.ORCID 0000-0002-2038-7367
Shelly Lev-HochbergThe Institute for Rare Diseases, Sheba Medical Center, Ramat Gan 52621, Israel.
Hadas ItyelThe Institute for Rare Diseases, Sheba Medical Center, Ramat Gan 52621, Israel.
Lior GreenbaumThe Danek Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan 52621, Israel.
Asaf VivanteGray Faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv 69978, Israel.
Annick Rein-RothschildThe Institute for Rare Diseases, Sheba Medical Center, Ramat Gan 52621, Israel.
Ben Pode-ShakkedThe Institute for Rare Diseases, Sheba Medical Center, Ramat Gan 52621, Israel.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundLaterality defects are rare congenital malformations that encompass congenital heart defects (CHDs) together with abnormalities of visceral organ arrangement (situs inversus or situs ambiguous). These defects may be isolated or part of a syndromic presentation with multisystem involvement. While over 50 genes have been implicated in laterality disorders, across multiple modes of inheritance, many cases remain molecularly undiagnosed. We sought to elucidate the molecular basis of dextrocardia, CHDs and visceral heterotaxy in two unrelated individuals of Arab-Muslim descent.

methodsDetailed clinical phenotyping and exome sequencing (ES) were performed for each of the probands, followed by familial segregation analysis.

resultsES revealed a shared homozygous variant in the Dan Domain Family Member 5 (

conclusions

Indexed as

DextrocardiaHeart Defects, CongenitalHeterotaxy SyndromeIntercellular Signaling Peptides and ProteinsExome SequencingFemaleGenes, RecessiveHumansMalePedigreePhenotypeDAND5 protein, humanIntercellular Signaling Peptides and Proteinscongenital heart defectsDAND5heterotaxyisomerismlaterality defects

Identifiers

PMID42650045
PMCPMC13511787

What OpenQuestion holds

Textmetadata
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.