Evidence map›Paper›PMID 34356068›Full record

ArticleGenes2021

A Genomic Approach to Delineating the Occurrence of Scoliosis in Arthrogryposis Multiplex Congenita.

Xenia Latypova, Stefan Giovanni Creadore, Noémi Dahan-Oliel, Anxhela Gjyshi Gustafson, Steven Wei-Hung Hwang, Tanya Bedard, Kamran Shazand, Harold J P van Bosse, Philip F Giampietro, Klaus Dieterich

Open access · goldAbstract read
In one paragraph

Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed, 1 pooled it
0.7field-weighted citation impact, top 30% 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

6 citing papers in PubMed, 1 synthesis or guideline pooled it, 9 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Review
  4. Case Report: A novel missense variant inFrontiers in pediatrics · 2025
    Article
  5. Article
  6. 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

10 authors at 6 institutions in 3 countries.

Xenia LatypovaGrenoble Institut Neurosciences, Université Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, 38000 Grenoble, France.
Stefan Giovanni CreadoreShriners Hospitals for Children Headquarters, Tampa, FL 33607, USA.
Noémi Dahan-OlielShriners Hospitals for Children, Montreal, QC H4A 0A9, Canada.
Anxhela Gjyshi GustafsonShriners Hospitals for Children Headquarters, Tampa, FL 33607, USA.
Steven Wei-Hung HwangShriners Hospitals for Children, Philadelphia, PA 19140, USA.
Tanya BedardAlberta Congenital Anomalies Surveillance System, Alberta Health Services, Edmonton, AB T5J 3E4, Canada.
Kamran ShazandShriners Hospitals for Children Headquarters, Tampa, FL 33607, USA.
Harold J P van BosseShriners Hospitals for Children, Philadelphia, PA 19140, USA.ORCID 0000-0002-4033-6540
Philip F GiampietroDepartment of Pediatrics, University of Illinois-Chicago, Chicago, IL 60607, USA.ORCID 0000-0003-2874-8064
Klaus DieterichInstitut of Advanced Biosciences, Université Grenoble Alpes, Inserm, U1209, CHU Grenoble Alpes, 38000 Grenoble, France.ORCID 0000-0002-4362-4062
Shriners Hospitals for Children - Tampa · USInserm · FRShriners Hospitals for Children - Philadelphia · USAlberta Health Services · CAShriners Hospitals for Children - Canada · CAUniversity of Illinois Chicago · US

Funding

Functional Analysis of Whole Exome Sequence Variants Identified in Patients with Vertebral MalformationsR03HD099516 · NICHD · UNIVERSITY OF ILLINOIS AT CHICAGO · PI GIAMPIETRO, PHILIP F · 2020 to 2021
$247k
NICHD NIH HHS R03 HD099516Wellcome Trust
6 · The paper itself

Abstract

Arthrogryposis multiplex congenita (AMC) describes a group of conditions characterized by the presence of non-progressive congenital contractures in multiple body areas. Scoliosis, defined as a coronal plane spine curvature of ≥10 degrees as measured radiographically, has been reported to occur in approximately 20% of children with AMC. To identify genes that are associated with both scoliosis as a clinical outcome and AMC, we first queried the DECIPHER database for copy number variations (CNVs). Upon query, we identified only two patients with both AMC and scoliosis (AMC-SC). The first patient contained CNVs in three genes (

Indexed as

DNA Copy Number VariationsGene Expression RegulationGenetic MarkersArthrogryposisGene Expression ProfilingGenomicsHumansPhenotypeScoliosisGenetic MarkersakinesiaAmyoplasiaCNV (copy number variant)DA (distal arthrogryposis)DECIPHER (DatabasE of genomiC variation and Phenotype in Humans using Ensemble Resources)HPO (human phenotype ontology)IGF2IPA (ingenuity pathway analysis)MYODscoliosis

Identifiers

PMID34356068
PMCPMC8305424
OpenAlexW3182009328

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.