Evidence map›Paper›PMID 33436522›Full record

ArticleJournal of medical genetics2022

Unexpected role of

Eduardo Calpena, Maud Wurmser, Simon J McGowan, Rodrigo Atique, Débora R Bertola, Michael L Cunningham, Jonas A Gustafson, David Johnson, Jenny E V Morton, Maria Rita Passos-Bueno and 6 more

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

Article in Journal of medical genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
1.6field-weighted citation impact, top 17% 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

5 citing papers in PubMed, 1 synthesis or guideline pooled it, 10 citations in OpenAlex.

  1. Genetics versus environment in the pathophysiology of sagittal synostosis.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026
    Pooled it
  2. Review
  3. Transcriptomic analysis reveals the role of SIX1 in mouse cranial neural crest patterning and bone development.Developmental dynamics : an official publication of the American Association of Anatomists · 2023
    Article
  4. Article
  5. 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

16 authors at 8 institutions in 4 countries.

Eduardo CalpenaClinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.ORCID 0000-0001-6399-6528
Maud WurmserInstitut Cochin, INSERM, CNRS, Université de Paris, Paris, France.
Simon J McGowanCentre for Computational Biology, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
Rodrigo AtiqueCentro de Estudos do Genoma Humano, Universidade de São Paulo, São Paulo, Brazil.
Débora R BertolaUnidade de Genética Clínica, Instituto da Criança do Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Michael L CunninghamCenter for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, Washington, USA.
Jonas A GustafsonCenter for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, Washington, USA.
David JohnsonCraniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Jenny E V MortonWest Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.
Maria Rita Passos-BuenoCentro de Estudos do Genoma Humano, Universidade de São Paulo, São Paulo, Brazil.
Andrew T TimberlakeHansjörg Wyss Department of Plastic Surgery, New York University Langone Medical Center, New York, New York, USA.
Richard P LiftonRockefeller University, New York, New York, USA.
Steven A WallCraniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Stephen R F TwiggClinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
Pascal MaireInstitut Cochin, INSERM, CNRS, Université de Paris, Paris, France.
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 · GBUniversidade de São Paulo · BRCentre National de la Recherche Scientifique · FROxford University Hospitals NHS Trust · GBSeattle Children's Hospital · USBirmingham Women’s and Children’s NHS Foundation Trust · GBNYU Langone Health · USRockefeller University · US

Funding

Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9M
SINGLE SUTURE CRANIOSYNOSTOSIS: CANDIDATE GENE AND PATHWAY DISCOVERYR01DE018227 · NIDCR · UNIVERSITY OF WASHINGTON · PI CUNNINGHAM, MICHAEL L · 2008 to 2017
$5.6M
Medical Research Council G0902418NCATS NIH HHS UL1 TR001863NIDCR NIH HHS R01 DE018227Wellcome Trust 102731/Z/13/Z
6 · The paper itself

Abstract

backgroundPathogenic heterozygous

methodsWe investigated probands with craniosynostosis of unknown cause using whole exome/genome (n=628) or RNA (n=386) sequencing, and performed targeted resequencing of

resultsFrom 1629 unrelated cases with craniosynostosis we identified seven different

conclusionCraniosynostosis is associated with heterozygous

Indexed as

AnimalsChild, PreschoolCohort StudiesCranial SuturesCraniosynostosesDNA Mutational AnalysisGenetic Association StudiesHomeodomain ProteinsHumansInfantMicePedigreePhenotypeRNA-SeqWhole Genome SequencingHomeodomain ProteinsSIX1 protein, humanmusculoskeletal diseases

Identifiers

PMID33436522
PMCPMC8273188
OpenAlexW3118825877

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.