Discover Community Create You

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

Article

Scoring Algorithm‐Based Genomic Testing in Dystonia: A Prospective Validation Study

5 May 2021

Abstract excerpt

BACKGROUND: Despite the established value of genomic testing strategies, practice guidelines for their use do not exist in many indications. OBJECTIVES: We sought to validate a recently introduced scoring algorithm for dystonia, predicting the diagnostic utility of whole-exome sequencing (WES) based on individual phenotypic aspects (age-at-onset, body distribution, presenting comorbidity). METHODS: We...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Neurodegenerative Diseases
Share to Genomics and Rare Diseases
Share to Neurological disorders and treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 33949708
DOI: 10.1002/mds.28614

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Scoring Algorithm‐Based Genomic Testing in Dystonia: A Prospective Validation StudyPMID 33949708Read ↗

Genetic Assessment of Consecutively Recruited Dystonia Cases from a Single CenterSemantic proximity Read ↗

Genetic assessment of consecutively recruited dystonia cases from a single center.Semantic proximity Read ↗

Genotype-Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review.Semantic proximity Read ↗

Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes.Semantic proximity Read ↗

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing.Semantic proximity Read ↗

Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes.Semantic proximity Read ↗

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome SequencingSemantic proximity Read ↗

Genome sequencing reanalysis increases the diagnostic yield in dystonia.Semantic proximity Read ↗

Clinical testing panels for ALS: global distribution, consistency, and challengesSemantic proximity Read ↗

Monogenic variants in dystonia: an exome-wide sequencing study.Semantic proximity Read ↗

Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing.Semantic proximity Read ↗

Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes.Semantic proximity Read ↗

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