Evidence map›Paper›PMID 36968005›Full record

ArticleFrontiers in genetics2022

Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant.

Ivana Dabaj, Robert Y Carlier, Klaus Dieterich, Isabelle Desguerre, Julien Faure, Norma B Romero, Wenting Trang, Susana Quijano-Roy, Dominique P Germain

Open access · goldFull text read
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In one paragraph

Article in Frontiers in genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
1.4field-weighted citation impact, top 18% 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, 5 citations in OpenAlex.

  1. The EmergingHuman mutation · 2025
    Article
  2. Review
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

9 authors at 6 institutions in 1 country.

Ivana DabajAPHP Université Paris-Saclay, Neuromuscular Unit, Department of Pediatric Neurology and ICU, Raymond Poincaré University Hospital (UVSQ), Garches, France.
Robert Y CarlierNord-Est Ile de France National Neuromuscular Center, French Network (FILNEMUS) and European Reference Network (Euro-NMD), Paris, France.
Klaus DieterichUniversity Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Medical Genetics, Grenoble Institute of Neurosciences, Grenoble, France.
Isabelle DesguerreAssistance Publique-Hôpitaux de Paris, Paediatric Neurology Department - CHU Necker-Enfants-Malades, Paris, France.
Julien FaureUniversity Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Medical Genetics, Grenoble Institute of Neurosciences, Grenoble, France.
Norma B RomeroSorbonne Universités, UPMC University, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, Institut de Myologie, APHP GHU Pitié-Salpêtrière, Paris, France.
Wenting TrangAnDDI-RARE Paris Referral Center for Birth Defects, Division of Medical Genetics, APHP Paris Saclay University, Paris, France.
Susana Quijano-RoyAPHP Université Paris-Saclay, Neuromuscular Unit, Department of Pediatric Neurology and ICU, Raymond Poincaré University Hospital (UVSQ), Garches, France.
Dominique P GermainAnDDI-RARE Paris Referral Center for Birth Defects, Division of Medical Genetics, APHP Paris Saclay University, Paris, France.
Assistance Publique – Hôpitaux de Paris · FRCentre Hospitalier Universitaire de Grenoble · FRInstitut de Myologie · FRUniversité de Versailles Saint-Quentin-en-Yvelines · FRUniversité Grenoble Alpes · FRUniversité Paris-Saclay · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

DA2Bdistal arthrogryposis type 2Bneurogenic patternSheldon-hall syndromeTNNT3

Identifiers

PMID36968005
PMCPMC10034368
OpenAlexW4323665300

What OpenQuestion holds

Textfull text, public
LicenceCC BY
reference markers read12
measurements read8
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.