Genome sequencing reanalysis increases the diagnostic yield in dystonia.

doi:10.1016/j.parkreldis.2024.107010

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

Genome sequencing reanalysis increases the diagnostic yield in dystonia.

Parkinsonism & related disorders - 1 Jul 2024

Fellner Avi, Wali Gurusidheshwar M, Mahant Neil, Grosz Bianca R, Ellis Melina, Narayanan Ramesh K, Ng Karl, Davis Ryan L, Tchan Michel C, Kotschet Katya, Yeow Dennis, Rudaks Laura I, Siow Sue-Faye, Wali Gautam, Yiannikas Con, Hobbs Matthew, Copty Joseph, Geaghan Michael, Darveniza Paul, Liang Christina, Williams Laura J, Chang Florence C F, Morales-Briceño Hugo, Tisch Stephen, Hayes Michael, Whyte Scott, Kummerfeld Sarah, Kennerson Marina L, Cowley Mark J, Fung Victor S C, Sue Carolyn M, Kumar Kishore R

Abstract excerpt

PURPOSE: We investigated the contribution of genomic data reanalysis to the diagnostic yield of dystonia patients who remained undiagnosed after prior genome sequencing. METHODS: Probands with heterogeneous dystonia phenotypes who underwent initial genome sequencing (GS) analysis in 2019 were included in the reanalysis, which was performed through gene-specific discovery collaborations and systematic genomic data...

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 Dystonia

Share to Dystonic Disorders

Share to Neurological disorders and treatments

Share to Phenotype

Share to Whole Genome Sequencing

Share to Young Adult

Source

Open in PubMed

Identifiers

PMID: 38772265
DOI: 10.1016/j.parkreldis.2024.107010

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genome sequencing reanalysis increases the diagnostic yield in dystonia.PMID 38772265Read ↗

Reanalysis of Exome Sequencing Data in the Indian Undiagnosed Diseases Program: Improving Diagnostic Yield and Ending Diagnostic Odyssey.Semantic proximity Read ↗

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

Increased diagnostic yield in complex dystonia through exome sequencing.Semantic proximity Read ↗

Scoring Algorithm‐Based Genomic Testing in Dystonia: A Prospective Validation StudySemantic proximity Read ↗

Fibroblast transcriptomics in molecular diagnostics of a comprehensive dystonia cohortSemantic proximity Read ↗

Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context.Semantic proximity Read ↗

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

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

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

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystoniaSemantic proximity Read ↗

Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applicationsSemantic proximity Read ↗

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