Evidence map›Paper›PMID 41473596›Full record

ArticleHuman mutation2025

The Emerging

Nami Altin, Kamel Mamchaoui, Jessica Ohana, Anne Bigot, Beatrice Corradi, Luca Maragliano, Francesca Madia, Marzia Ognibene, Mohammad Sadegh Shams Nosrati, Dario Paladini and 9 more

Abstract readCase Reports
In one paragraph

Article in Human mutation, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Article
  3. The EmergingHuman mutation · 2025
    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

19 authors.

Nami AltinSorbonne Université, INSERM, Institute of Myology, Centre of Research in Myology, Paris, France, sorbonne-universites.fr.ORCID 0009-0000-5321-7447
Kamel MamchaouiSorbonne Université, INSERM, Institute of Myology, Centre of Research in Myology, Paris, France, sorbonne-universites.fr.ORCID 0000-0002-0323-9290
Jessica OhanaSorbonne Université, INSERM, Institute of Myology, Centre of Research in Myology, Paris, France, sorbonne-universites.fr.ORCID 0009-0005-0989-2003
Anne BigotSorbonne Université, INSERM, Institute of Myology, Centre of Research in Myology, Paris, France, sorbonne-universites.fr.ORCID 0000-0003-0337-5425
Beatrice CorradiCenter for Synaptic Neuroscience and Technology, Istituto Italiano di Tecnologia, Genoa, Italy, iit.it.ORCID 0000-0002-9510-9388
Luca MaraglianoCenter for Synaptic Neuroscience and Technology, Istituto Italiano di Tecnologia, Genoa, Italy, iit.it.ORCID 0000-0002-5705-6967
Francesca MadiaMedical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy, gaslini.org.ORCID 0000-0002-7807-1322
Marzia OgnibeneMedical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy, gaslini.org.ORCID 0000-0003-3698-9319
Mohammad Sadegh Shams NosratiMedical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy, gaslini.org.ORCID 0000-0002-5762-0601
Dario PaladiniFetal Medicine and Surgery Unit, Department Mother and Child, IRCCS Istituto Giannina Gaslini, Genoa, Italy, gaslini.org.ORCID 0000-0002-5102-6062
Michele IacominoMedical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy, gaslini.org.ORCID 0000-0003-4788-9719
Asma RashidDivision of Genetics and Genomics, Department of Medicine, Boston Children's Hospital/Harvard Medical School, Boston, Massachusetts, USA, harvard.edu.
Olaf BodamerDivision of Genetics and Genomics, Department of Medicine, Boston Children's Hospital/Harvard Medical School, Boston, Massachusetts, USA, harvard.edu.
Susana Quijano-RoyGarches Neuromuscular Reference Center, Child Neurology and ICU Department, APHP Raymond Poincare University Hospital (UVSQ Paris Saclay), Garches, France.ORCID 0000-0002-8503-6111
Jaya PunethaGeneDx, Gaithersburg, Maryland, USA, genedx.com.ORCID 0000-0002-6774-4464
Valeria CapraClinical Genomics and Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy, gaslini.org.ORCID 0000-0002-3097-0388
Federico ZaraMedical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy, gaslini.org.ORCID 0000-0001-9744-5222
Capucine TrolletSorbonne Université, INSERM, Institute of Myology, Centre of Research in Myology, Paris, France, sorbonne-universites.fr.ORCID 0000-0002-4838-3712
Marcello ScalaMedical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy, gaslini.org.ORCID 0000-0003-2194-7239

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Distal arthrogryposis (DA) is a group of nonprogressive congenital muscular disorders affecting distal limb joints, without concurrent neuromuscular disease. Ten different types of DAs are known, with many different genes involved. Dominant variants in

Indexed as

ArthrogryposisMyotonia CongenitaTroponin TChildChild, PreschoolExome SequencingFemaleHumansMaleMutationMutation, MissensePhenotypeTNNT3 protein, humanTroponin Tcongenital myopathydistal arthrogryposisloss of functionrecessive variantsTNNT3troponin T3

Identifiers

PMID41473596
PMCPMC12745331

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.