Evidence map›Paper›PMID 38765987›Full record

ArticlebioRxiv : the preprint server for biology2024

Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy.

Shruthi Mohan, Shannon McNulty, Courtney Thaxton, Marwa Elnagheeb, Emma Owens, May Flowers, Teagan Nunnery, Autumn Self, Brooke Palus, Svetlana Gorokhova and 20 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in bioRxiv : the preprint server for biology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

30 authors.

Shruthi MohanDepartment of Genetics, University of North Carolina, Chapel Hill, NC, USA.
Shannon McNultyDepartment of Genetics, University of North Carolina, Chapel Hill, NC, USA.
Courtney ThaxtonDepartment of Genetics, University of North Carolina, Chapel Hill, NC, USA.
Marwa ElnagheebDepartment of Genetics, University of North Carolina, Chapel Hill, NC, USA.
Emma OwensDepartment of Genetics, University of North Carolina, Chapel Hill, NC, USA.
May FlowersDepartment of Genetics, University of North Carolina, Chapel Hill, NC, USA.
Teagan NunneryDepartment of Genetics, University of North Carolina, Chapel Hill, NC, USA.
Autumn SelfDepartment of Genetics, University of North Carolina, Chapel Hill, NC, USA.
Brooke PalusDepartment of Genetics, University of North Carolina, Chapel Hill, NC, USA.
Svetlana GorokhovaAix Marseille Univ, INSERM, MMG, U 1251, Marseille, France.
April KennedyThe Hospital for Sick Children, Toronto, ON, Canada.
Zhiyv NiuDepartment of Laboratory Medicine and Pathology, Mayo Clinic.
Mridul JohariHarry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia.
Alassane Baneye MaigaUniversity of Sciences, Techniques and Technologies of Bamako, Mali.
Kelly MacalaladWashington University School of Medicine in St. Louis.
Amanda R ClauseWashington University School of Medicine in St. Louis.
Jacques S BeckmannUniversity of Lausanne, Lausanne, Switzerland.
Lucas BronickiChildren's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
Sandra T CooperKids Neuroscience Centre, Children's Hospital at Westmead; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney; Functional Neuromics, Children's Medical Research Institute, Westmead, NSW, Australia.
Vijay S GaneshCenter for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA.
Peter B KangGreg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota, Minneapolis, MN, USA.
Akanchha KesariIllumina Inc, San Diego, CA, USA.
Monkol LekDepartment of Genetics, Yale University School of Medicine, New Haven, CT, USA.
Jennifer LevyCoalition to Cure Calpain 3, Westport, CT, USA.
Laura RufibachJain Foundation, Seattle, WA USA.
Marco SavareseFolkhälsan Research Center, Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Finland.
Melissa J SpencerDavid Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
Volker StraubJohn Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, UK.
Giorgio TascaJohn Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, UK.
Conrad C WeihlWashington University School of Medicine in St. Louis.

Funding

The Clinical Genome Resource – Advancing genomic medicine through biocuration and expert assessment of genes and variants at scaleU24HG009650 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI JONATHAN S BERG, Jessica Ezzell Hunter · 2021 to 2026
$30.0M
NHGRI NIH HHS U24 HG009650
6 · The paper itself

Abstract

Introduction: Limb girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous autosomal conditions with some degree of phenotypic homogeneity. LGMD is defined as having onset >2 years of age with progressive proximal weakness, elevated serum creatine kinase levels and dystrophic features on muscle biopsy. Advances in massively parallel sequencing have led to a surge in genes linked to LGMD. Methods: The ClinGen Muscular Dystrophies and Myopathies gene curation expert panel (MDM GCEP, formerly Limb Girdle Muscular Dystrophy GCEP) convened to evaluate the strength of evidence supporting gene-disease relationships (GDR) using the ClinGen gene-disease clinical validity framework to evaluate 31 genes implicated in LGMD. Results: The GDR was exclusively LGMD for 17 genes, whereas an additional 14 genes were related to a broader phenotype encompassing congenital weakness. Four genes ( Conclusions: The expert-reviewed assertions on the clinical validity of genes implicated in LGMDs form an invaluable resource for clinicians and molecular geneticists. We encourage the global neuromuscular community to publish case-level data that help clarify disputed or novel LGMD associations.

Indexed as

ClinGengene-disease validityLGMDlimb girdle muscular dystrophynext-generation sequencing

Identifiers

PMID38765987
PMCPMC11100593

What OpenQuestion holds

Textmetadata
LicenceCC BY-ND
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.