Evidence map›Paper›PMID 36543535›Full record

ArticleJournal of medical genetics2023

Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of

Rebecca S Tooze, Eduardo Calpena, Stephen R F Twigg, Felice D'Arco, Genomics England Research Consortium, Emma L Wakeling, Andrew O M Wilkie

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of medical genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed, 1 pooled it
0.4field-weighted citation impact, top 31% of its field
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

2 citing papers in PubMed, 1 synthesis or guideline pooled it, 2 citations in OpenAlex.

  1. Pooled it
  2. 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

7 authors at 2 institutions in 1 country.

Rebecca S Tooze *Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.ORCID 0000-0003-1396-3765
Eduardo Calpena *Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.ORCID 0000-0001-6399-6528
Stephen R F TwiggClinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.ORCID 0000-0001-5024-049X
Felice D'ArcoDepartment of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.ORCID 0000-0001-7396-591X
Genomics England Research Consortium
Emma L WakelingNorth East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.ORCID 0000-0001-5712-0044
Andrew O M WilkieClinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK andrew.wilkie@imm.ox.ac.uk.ORCID 0000-0002-2972-5481
University of Oxford · GBGreat Ormond Street Hospital for Children NHS Foundation Trust · GB

Funding

Cancer Research UKDepartment of HealthMedical Research Council G0902418Medical Research Council MC UU 12025Medical Research Council MR/T031670/1Wellcome Trust
6 · The paper itself

Abstract

introduction

methodsAnalysis of whole-genome sequencing data from individuals with craniosynostosis enrolled in the 100,000 Genomes Project identified a likely pathogenic variant within

resultsA nonsense variant in

conclusionThis is the first report of complete loss of Spry-1 function in humans, associated with abnormalities of the cranial sutures, inner ear, and kidneys.

Indexed as

CraniosynostosesEar, InnerUrinary TractAdaptor Proteins, Signal TransducingAnimalsChildHumansMembrane ProteinsMiceMice, KnockoutPhosphoproteinsAdaptor Proteins, Signal TransducingMembrane ProteinsPhosphoproteinsSPRY1 protein, humangeneticshuman geneticsmusculoskeletal diseases

Identifiers

PMID36543535
PMCPMC10359576
OpenAlexW4312061421

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.