ArticleScientific reports2019
Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson's Disease.
Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 2 of them syntheses that pooled it.
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Who cites it
26 citing papers in PubMed, 2 syntheses or guidelines pooled it, 48 citations in OpenAlex.
- Pooled it
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- Proteomic signature of aging in bloodstain samples: a preliminary study.BMC genomics · 2025Article
- CoPPIs algorithm: a tool to unravel protein cooperative strategies in pathophysiological conditions.Briefings in bioinformatics · 2025Article
- Case Report: Decoding genetic risks of vascular parkinsonism: a case series.Frontiers in genetics · 2025Article
- Identification of rare missense variants in the BSN gene co-segregating with chronic otitis media in a consanguineous Pakistani family.Molecular genetics & genomic medicine · 2024Article
- Article
- PTPA variants and the risk for Parkinson's disease in diverse ancestry populations.Brain : a journal of neurology · 2023Article
- Phosphorylation-dependent recognition of diverse protein targets by the cryptic GK domain of MAGI MAGUKs.Science advances · 2023Article
- Heterogeneity in biomarkers, mitogenome and genetic disorders of the Arab population with special emphasis on large-scale whole-exome sequencing.Archives of medical science : AMS · 2023Article
- Dynamin-like Protein 1 (DNML1) as a Molecular Target for Antibody-Based Immunotherapy to Treat Glaucoma.International journal of molecular sciences · 2022Article
- A multicenter study of genetic testing for Parkinson's disease in the clinical setting.NPJ Parkinson's disease · 2022Article
- Systemic RNA Interference Defective (SID) genes modulate dopaminergic neurodegeneration in C. elegans.PLoS genetics · 2022Article
- A Novel 16-Genes Signature Scoring System as Prognostic Model to Evaluate Survival Risk in Patients with Glioblastoma.Biomedicines · 2022Article
- Identification and immunological characterization of cuproptosis-related molecular clusters in Alzheimer's disease.Frontiers in aging neuroscience · 2022Article
- Somatic Mutations Detected in Parkinson Disease Could Affect Genes With a Role in Synaptic and Neuronal Processes.Frontiers in aging · 2022Article
- Whole Exome Sequencing Study in Isolated South-Eastern Moravia (Czechia) Population Indicates Heterogenous Genetic Background for Parkinsonism Development.Frontiers in neuroscience · 2022Article
- Clinical significance and potential molecular mechanism of miRNA-222-3p in metastatic prostate cancer.Bioengineered · 2021Article
Corrections and comments
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Authors and funding
19 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic studies of the familial forms of Parkinson's disease (PD) have identified a number of causative genes with an established role in its pathogenesis. These genes only explain a fraction of the diagnosed cases. The emergence of Next Generation Sequencing (NGS) expanded the scope of rare variants identification in novel PD related genes. In this study we describe whole exome sequencing (WES) genetic findings of 60 PD patients with 125 variants validated in 51 of these cases. We used strict criteria for variant categorization that generated a list of variants in 20 genes. These variants included loss of function and missense changes in 18 genes that were never previously linked to PD (NOTCH4, BCOR, ITM2B, HRH4, CELSR1, SNAP91, FAM174A, BSN, SPG7, MAGI2, HEPHL1, EPRS, PUM1, CLSTN1, PLCB3, CLSTN3, DNAJB9 and NEFH) and 2 genes that were previously associated with PD (EIF4G1 and ATP13A2). These genes either play a critical role in neuronal function and/or have mouse models with disease related phenotypes. We highlight NOTCH4 as an interesting candidate in which we identified a deleterious truncating and a splice variant in 2 patients. Our combined molecular approach provides a comprehensive strategy applicable for complex genetic disorders.
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