Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.

doi:10.1038/s41431-024-01699-4

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.

European journal of human genetics : EJHG - 1 Mar 2025

Estévez-Arias Berta, Matalonga Leslie, Yubero Delia, Polavarapu Kiran, Codina Anna, Ortez Carlos, Carrera-García Laura, Expósito-Escudero Jesica, Jou Cristina, Meyer Stefanie, Kilicarslan Ozge Aksel, Aleman Alberto, Thompson Rachel, Luknárová Rebeka, Esteve-Codina Anna, Gut Marta, Laurie Steven, Demidov German, Yépez Vicente A, Beltran Sergi, Gagneur Julien, Topf Ana, Lochmüller Hanns, Nascimento Andres, Hoenicka Janet, Palau Francesc, Natera-de Benito Daniel

Abstract excerpt

Establishing a molecular diagnosis remains challenging in half of individuals with childhood-onset neuromuscular diseases (NMDs) despite exome sequencing. This study evaluates the diagnostic utility of combining genomic approaches in undiagnosed NMD patients. We performed deep phenotyping of 58 individuals with unsolved childhood-onset NMDs that have previously undergone inconclusive exome studies. Genomic...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child

Share to Child, Preschool

Share to Exome Sequencing

Share to Genetic Testing

Share to Genomics

Share to Infant

Share to Neuromuscular Diseases

Source

Open in PubMed Open full text

Identifiers

PMID: 39333429
DOI: 10.1038/s41431-024-01699-4
PMCID: PMC11840105

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.PMID 39333429Read ↗

Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing aloneSemantic proximity Read ↗

Neuromuscular Disorders in Children Through the Lens of Next-Generation Sequencing: A Study of Diagnostic Yield.Semantic proximity Read ↗

Neuromuscular Disorders in Children through the Lens of Next Generation Sequencing: A Study of Diagnostic YieldSemantic proximity Read ↗

Systematic reanalysis of next-generation sequencing data in 101 neuromuscular disorder families enhances diagnostic yield, reveals intronic variants, and identifies a novel disease gene.Semantic proximity Read ↗

Next-generation sequencing for pediatric-onset neuromuscular disorders unresolved by conventional diagnostic methodsSemantic proximity Read ↗

Diagnostic utility of exome sequencing in the evaluation of neuromuscular disordersSemantic proximity Read ↗

Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic ServiceSemantic proximity Read ↗

Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses.Semantic proximity Read ↗

Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGSSemantic proximity Read ↗

Whole genome and transcriptome sequencing in neuromuscular disorders: a diagnostic and health economic analysisSemantic proximity Read ↗

Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular ClinicSemantic proximity Read ↗

The rapid evolution of molecular genetic diagnostics in neuromuscular diseasesSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.