Evidence map›Paper›PMID 42549073›Full record

ArticleHuman mutation2026

Complex Genomic Rearrangement Involving the

Shruti A Pande, Hiuling Chan Joiner, Przemyslaw Szafranski, Tomasz Gambin, Frank P Edenborough, Rachael E Thompson, Michael J Parker, Carrie Hammond, Shahin Moledina, Justyna A Karolak and 1 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

11 authors.

Shruti A PandeDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA, bcm.edu.ORCID https://orcid.org/0000-0001-5700-7789
Hiuling Chan JoinerDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA, bcm.edu.ORCID https://orcid.org/0009-0003-2053-2477
Przemyslaw SzafranskiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA, bcm.edu.
Tomasz GambinInstitute of Computer Science, Warsaw University of Technology, Warsaw, Poland, pw.edu.pl.
Frank P EdenboroughSheffield Adult Cystic Fibrosis Centre, Sheffield Teaching Hospitals NHS Foundation Trust, Northern General Hospital, Sheffield, UK, nhs.uk.
Rachael E ThompsonSheffield Adult Cystic Fibrosis Centre, Sheffield Teaching Hospitals NHS Foundation Trust, Northern General Hospital, Sheffield, UK, nhs.uk.
Michael J ParkerSheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Northern General Hospital, Sheffield, UK, nhs.uk.
Carrie HammondSheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Northern General Hospital, Sheffield, UK, nhs.uk.
Shahin MoledinaGreat Ormond Street Hospital for Children NHS Foundation Trust and UCL Institute of Cardiovascular Sciences, London, UK.ORCID https://orcid.org/0000-0003-0262-2340
Justyna A KarolakChair and Department of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, Poznan, Poland, ump.edu.pl.ORCID https://orcid.org/0000-0002-2340-4513
Pawel StankiewiczDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA, bcm.edu.ORCID https://orcid.org/0000-0002-6456-7490

Funding

Etiology and pathogenesis of lethal lung developmental disorders in neonatesR01HL165301 · NHLBI · BAYLOR COLLEGE OF MEDICINE · PI PAWEL STANKIEWICZ · 2023 to 2026
$3.1M
NHLBI NIH HHS R01 HL165301
6 · The paper itself

Abstract

Variants involving

Indexed as

Gene RearrangementLower Extremity Deformities, CongenitalPatellaPromoter Regions, GeneticT-Box Domain ProteinsBone Diseases, DevelopmentalFemaleGenetic Association StudiesHipHumansHypertension, PulmonaryIschiumMalePedigreePhenotypeT-Box Domain ProteinsTBX4 protein, humanincomplete penetrancelung diseasesnoncoding modifierssmall patella syndrome

Identifiers

PMID42549073
PMCPMC13430282

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.