Evidence map›Paper›PMID 40225164›Full record

ArticleHuman mutation2023

A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and

Alistair T Pagnamenta, Jing Yu, Tracey A Willis, Mona Hashim, Eleanor G Seaby, Susan Walker, Jiaqi Xian, Emily W Y Cheng, Ana Lisa Taylor Tavares, Francesca Forzano and 8 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human mutation, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Neurodevelopmental disorder and juvenile-onset tics associated with microdeletion of the SRRM2 gene.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025
    Article
  3. Article
  4. 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

18 authors.

Alistair T PagnamentaOxford NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.ORCID 0000-0001-7334-0602
Jing YuOxford NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.ORCID 0000-0001-8001-8494
Tracey A WillisMuscle team, Robert Jones and Agnes Hunt Orthopaedic NHS Trust Hospital, Oswestry, Shropshire, UK.
Mona HashimOxford NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
Eleanor G SeabyHuman Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.ORCID 0000-0002-6814-8648
Susan WalkerGenomics England, London, UK.ORCID 0000-0002-5016-6426
Jiaqi XianDepartment of Metabolism, Digestion and Reproduction, Section of Genetics and Genomics, Imperial College London, London, UK.
Emily W Y ChengGenomics England, London, UK.
Ana Lisa Taylor TavaresGenomics England, London, UK.
Francesca ForzanoDepartment of Clinical Genetics, Guy's and St Thomas NHS Foundation Trust and King's College London, London, UK.ORCID 0000-0001-5632-0052
Helen CoxWest Midlands Clinical Genetics Service, Birmingham Women's and Children's Hospital, Birmingham, UK.
Tabib DabirNorthern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK.
Angela F BradyNorth West Thames Regional Genetics Service, London North West Healthcare University NHS Trust, Northwick Park Hospital, Harrow, UK.
Neeti GhaliNorth West Thames Regional Genetics Service, London North West Healthcare University NHS Trust, Northwick Park Hospital, Harrow, UK.
Santosh S AtanurDepartment of Metabolism, Digestion and Reproduction, Section of Genetics and Genomics, Imperial College London, London, UK.
Sarah EnnisHuman Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.
Diana BaralleHuman Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.
Jenny C TaylorOxford NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.

Funding

Wellcome Trust
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Chromosomes, Human, Pair 16Genomic Structural VariationHaploinsufficiencyIntellectual DisabilityRNA-Binding ProteinsRNA Splicing FactorsChildFemaleHaplotypesHumansMalePedigreePhenotypeRNA-Binding ProteinsRNA Splicing Factors

Identifiers

PMID40225164
PMCPMC11918891

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.