Evidence map›Paper›PMID 41781207›Full record

ArticleJournal of medical genetics2026

Laura Kasak, Kristiina Rull, Anu Valkna, Maris Laan

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

Article in Journal of medical genetics, 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

4 authors.

Laura KasakChair of Human Genetics, Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia.ORCID http://orcid.org/0000-0003-4182-2396
Kristiina RullWomen's Clinic, Tartu University Hospital, Tartu, Estonia.
Anu ValknaChair of Human Genetics, Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia.
Maris LaanChair of Human Genetics, Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia maris.laan@ut.ee.ORCID http://orcid.org/0000-0002-8519-243X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Recurrent idiopathic severe fetal structural anomalies present major challenges for reproductive decision-making and genetic counselling. A non-consanguineous healthy Estonian couple had experienced two electively terminated pregnancies at 12-13 weeks' gestation due to unexplained major fetal malformations and one early miscarriage. Their three pregnancies had resulted in unaffected newborns. Exome sequencing of fetal tissues from both terminated pregnancies identified a homozygous rare missense variant in

Indexed as

Genetic Association StudiesHeart Defects, CongenitalUbiquitin-Protein LigasesExome SequencingFemaleGenes, RecessiveHumansMaleMutation, MissensePedigreePhenotypePregnancyUbiquitin-Protein LigasesExome SequencingFemale Urogenital Diseases and Pregnancy ComplicationsGenetic VariationHeart Defects, CongenitalPrenatal Diagnosis

Identifiers

PMID41781207
PMCPMC13217038

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.