ArticleMovement disorders : official journal of the Movement Disorder Society2017
Detection of genomic rearrangements from targeted resequencing data in Parkinson's disease patients.
Article in Movement disorders : official journal of the Movement Disorder Society, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 2 of them syntheses that pooled it.
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Who cites it
14 citing papers in PubMed, 2 syntheses or guidelines pooled it, 27 citations in OpenAlex.
- Rethinking 'rare'Journal of Parkinson's disease · 2025Pooled it
- Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1.Orphanet journal of rare diseases · 2022Guideline
- Alternative Translation Initiation in PRKN Delays the Onset of Parkinson's Disease and Offers a Therapeutic Target.Annals of neurology · 2026Article
- Clinical, mechanistic, biomarker, and therapeutic advances in GBA1-associated Parkinson's disease.Translational neurodegeneration · 2024Review
- High-depth whole-genome sequencing identifies structure variants, copy number variants and short tandem repeats associated with Parkinson's disease.NPJ Parkinson's disease · 2024Article
- GBAP1 functions as a tumor promotor in hepatocellular carcinoma via the PI3K/AKT pathway.BMC cancer · 2023Article
- Genetic Study of Early Onset Parkinson's Disease in Cyprus.International journal of molecular sciences · 2022Article
- Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson's disease-associated GBA gene.Communications biology · 2022Article
- Article
- The contribution of CNVs to the most common aging-related neurodegenerative diseases.Aging clinical and experimental research · 2021Review
- Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.Human molecular genetics · 2021Article
- Article
- Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION.Molecular genetics & genomic medicine · 2019Article
- Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.Human mutation · 2018Article
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe analysis of coverage depth in next-generation sequencing data allows the detection of gene dose alterations. We explore the frequency of such structural events in a Spanish cohort of sporadic PD cases.
methodsGene dose alterations were detected with the eXome-Hidden Markov Model (XHMM) software from depth of coverage in resequencing data available for 38 Mendelian and other risk PD loci in 394 individuals (249 cases and 145 controls) and subsequently validated by quantitative PCR.
resultsWe identified 10 PD patients with exon dosage alterations in PARK2, GBA-GBAP1, and DJ1. Additional functional variants, including 2 novel nonsense mutations (p.Arg1552Ter in LRRK2 and p.Trp90Ter in PINK1), were confirmed by Sanger sequencing. This combined approach disclosed the genetic cause of 12 PD cases.
conclusionsGene dose alterations related to PD can be correctly identified from targeting resequencing data. This approach substantially improves the detection rate of cases with causal genetic alterations. © 2016 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.
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