Analysis of Heterozygous PRKN Variants and Copy‐Number Variations in Parkinson's Disease

Private variants in PRKN are associated with late-onset Parkinson's disease

(2020) Franziska Hopfner et al.   PARKINSONISM & RELATED DISORDERS

The Landscape of Parkin Variants Reveals Pathogenic Mechanisms and Therapeutic Targets in Parkinson’s Disease

(2019) Wei Yi et al.   HUMAN MOLECULAR GENETICS

Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

(2019) Mike A Nalls et al.   LANCET NEUROLOGY

The Quebec Parkinson Network: A Researcher-Patient Matching Platform and Multimodal Biorepository

(2019) Ziv Gan-Or et al.   Journal of Parkinsons Disease

Increased yield of full GBA sequencing in Ashkenazi Jews with Parkinson's disease

(2018) Jennifer A. Ruskey et al.   European Journal of Medical Genetics

Targeted Therapies for Parkinson's Disease: From Genetics to the Clinic

(2018) S. Pablo Sardi et al.   MOVEMENT DISORDERS

VarSome: the human genomic variant search engine

(2018) Christos Kopanos et al.   BIOINFORMATICS

New Era in disease modification in Parkinson's disease: Review of genetically targeted therapeutics

(2018) S. Pablo Sardi et al.   PARKINSONISM & RELATED DISORDERS

panelcn.MOPS: Copy-number detection in targeted NGS panel data for clinical diagnostics

(2017) Gundula Povysil et al.   HUMAN MUTATION

Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature

(2017) Susanne A. Schneider et al.   MOVEMENT DISORDERS

Copy number variability in Parkinson’s disease: assembling the puzzle through a systems biology approach

(2016) Valentina La Cognata et al.   HUMAN GENETICS

Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson’s Disease

(2016) Bruno A. Benitez et al.   Molecular Neurodegeneration

Detection of genomic rearrangements from targeted resequencing data in Parkinson's disease patients

(2016) Nino Spataro et al.   MOVEMENT DISORDERS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Genome-wide assessment of Parkinson's disease in a Southern Spanish population

(2016) Sara Bandrés-Ciga et al.   NEUROBIOLOGY OF AGING

Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson's disease

(2016) Jay P. Ross et al.   NEUROBIOLOGY OF AGING

Age at onset and Parkinson disease phenotype

(2016) Gennaro Pagano et al.   NEUROLOGY

Glucocerebrosidase activity in Parkinson’s disease with and withoutGBAmutations

(2015) Roy N. Alcalay et al.   BRAIN

Heterozygote carriers for CNVs inPARK2are at increased risk of Parkinson's disease

(2015) Johanna Huttenlocher et al.   HUMAN MOLECULAR GENETICS

Genomic instability in the PARK2 locus is associated with Parkinson’s disease

(2015) Wojciech Ambroziak et al.   JOURNAL OF APPLIED GENETICS

MDS clinical diagnostic criteria for Parkinson's disease

(2015) Ronald B. Postuma et al.   MOVEMENT DISORDERS

Parkin (PARK 2) Mutations Are Rare in Czech Patients with Early-Onset Parkinson's Disease

(2014) Ondrej Fiala et al.   PLoS One

General Framework for Meta-analysis of Rare Variants in Sequencing Association Studies

(2013) Seunggeun Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives

(2013) Min Zhao et al.   BMC BIOINFORMATICS

Genetic Analysis ofPARK2andPINK1Genes in Brazilian Patients with Early-Onset Parkinson's Disease

(2013) Karla Cristina Vasconcelos Moura et al.   DISEASE MARKERS

Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies

(2012) Seunggeun Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

(2012) Vincent Plagnol et al.   BIOINFORMATICS

High frequency of Parkin exon rearrangements in Mexican-mestizo patients with early-onset Parkinson's disease

(2012) Jorge Luis Guerrero Camacho et al.   MOVEMENT DISORDERS

Systematic Review and UK-Based Study ofPARK2 (parkin), PINK1, PARK7 (DJ-1)andLRRK2in early-onset Parkinson's disease

(2012) Laura L. Kilarski et al.   MOVEMENT DISORDERS

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Autosomal recessive parkinsonism

(2011) Vincenzo Bonifati   PARKINSONISM & RELATED DISORDERS

Copy Number Variation in Familial Parkinson Disease

(2011) Nathan Pankratz et al.   PLoS One

Frequency of Known Mutations in Early-Onset Parkinson Disease

(2010) Roy N. Alcalay et al.   ARCHIVES OF NEUROLOGY

METAL: fast and efficient meta-analysis of genomewide association scans

(2010) C. J. Willer et al.   BIOINFORMATICS

In vivo assessment of brain monoamine systems in parkin gene carriers: A PET study

(2010) Nicola Pavese et al.   EXPERIMENTAL NEUROLOGY

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

The role of parkin in familial and sporadic Parkinson's disease

(2010) Ted M. Dawson et al.   MOVEMENT DISORDERS

A comprehensive analysis of deletions, multiplications, and copy number variations in PARK2

(2010) D. M. Kay et al.   NEUROLOGY

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and control

(2009) J Brooks et al.   JOURNAL OF MEDICAL GENETICS

Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: Phenotypic characterization and frequency ofSNCA,PRKN,PINK1, andLRRK2mutations

(2009) Sarah Teixeira Camargos et al.   MOVEMENT DISORDERS

Nigrostriatal dysfunction in homozygous and heterozygousparkingene carriers: An18F-dopa PET progression study

(2009) Nicola Pavese et al.   MOVEMENT DISORDERS

Risk of Parkinson Disease in Carriers of Parkin Mutations

(2008) Yuanjia Wang et al.   ARCHIVES OF NEUROLOGY

Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2

(2008) Jose Bras et al.   BMC Neurology

Genotypic and phenotypic characteristics of Dutch patients with early onset Parkinson's disease

(2008) Maria G. Macedo et al.   MOVEMENT DISORDERS

Genomewide SNP assay reveals mutations underlying Parkinson disease

(2007) Javier Simon-Sanchez et al.   HUMAN MUTATION

Parkin analysis in early onset Parkinson's disease

(2007) Francesca Sironi et al.   PARKINSONISM & RELATED DISORDERS