The role of genetics in Parkinson’s disease: a large cohort study in Chinese mainland population

Genetics of Parkinson's disease: An introspection of its journey towards precision medicine

(2020) Sara Bandres-Ciga et al.   NEUROBIOLOGY OF DISEASE

A Comprehensive Analysis of Population Differences in LRRK2 Variant Distribution in Parkinson's Disease

(2019) Li Shu et al.   Frontiers in Aging Neuroscience

The distribution and risk effect of GBA variants in a large cohort of PD patients from Colombia and Peru

(2019) Carlos Velez-Pardo et al.   PARKINSONISM & RELATED DISORDERS

A clinical and genetic study of early-onset and familial parkinsonism in taiwan: An integrated approach combining gene dosage analysis and next-generation sequencing

(2019) Chin-Hsien Lin et al.   MOVEMENT DISORDERS

Parkinson's disease age at onset genome‐wide association study: Defining heritability, genetic loci, and α‐synuclein mechanisms

(2019) Cornelis Blauwendraat et al.   MOVEMENT DISORDERS

Genetic analysis of Mendelian mutations in a large UK population-based Parkinson’s disease study

(2019) Manuela M.X. Tan et al.   BRAIN

Parkinson's disease in the Western Pacific Region

(2019) Shen-Yang Lim et al.   LANCET NEUROLOGY

Reanalysis of Clinical Exome Sequencing Data

(2019) Pengfei Liu et al.   NEW ENGLAND JOURNAL OF MEDICINE

Progress in the genetic analysis of Parkinson’s disease

(2019) Andrew Singleton et al.   HUMAN MOLECULAR GENETICS

The genetic architecture of Parkinson's disease

(2019) Cornelis Blauwendraat et al.   LANCET NEUROLOGY

The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population‐Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight

(2019) Sara Bandres‐Ciga et al.   MOVEMENT DISORDERS

Genetic modifiers of risk and age at onset in GBA associated Parkinson’s disease and Lewy body dementia

(2019) Cornelis Blauwendraat et al.   BRAIN

LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study

(2018) Marialuisa Quadri et al.   LANCET NEUROLOGY

Genotype-Phenotype Relations for the Parkinson's Disease Genes Parkin , PINK1 , DJ1: MDSGene Systematic Review

(2018) Meike Kasten et al.   MOVEMENT DISORDERS

OUP accepted manuscript

(2018)   NUCLEIC ACIDS RESEARCH

Glucocerebrosidase gene variants are accumulated in idiopathic REM sleep behavior disorder

(2018) Ana Gámez-Valero et al.   PARKINSONISM & RELATED DISORDERS

Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders

(2018) Solveig Montaut et al.   JAMA Neurology

LRP10 in α-synucleinopathies – Authors' reply

(2018) Marialuisa Quadri et al.   LANCET NEUROLOGY

Genotype-phenotype relations for the Parkinson's disease genes SNCA, LRRK2, VPS35: MDSGene systematic review

(2018) Joanne Trinh et al.   MOVEMENT DISORDERS

Therapeutic strategies for Parkinson disease: beyond dopaminergic drugs

(2018) Delphine Charvin et al.   NATURE REVIEWS DRUG DISCOVERY

Genetic variants of PARK genes in Korean patients with early-onset Parkinson's disease

(2018) Jinyoung Youn et al.   NEUROBIOLOGY OF AGING

Carriers of both GBA and LRRK2 mutations, compared to carriers of either, in Parkinson's disease: Risk estimates and genotype-phenotype correlations

(2018) Gilad Yahalom et al.   PARKINSONISM & RELATED DISORDERS

Coding mutations inNUS1contribute to Parkinson’s disease

(2018) Ji-feng Guo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Recent Advances in Biomarkers for Parkinson’s Disease

(2018) Runcheng He et al.   Frontiers in Aging Neuroscience

PLA2G6-Associated Neurodegeneration (PLAN): Review of Clinical Phenotypes and Genotypes

(2018) Yu-pei Guo et al.   Frontiers in Neurology

Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature

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

TMEM230 mutation analysis in Parkinson's disease in a Chinese population

(2017) Weiqian Yan et al.   NEUROBIOLOGY OF AGING

VarCards: an integrated genetic and clinical database for coding variants in the human genome

(2017) Jinchen Li et al.   NUCLEIC ACIDS RESEARCH

Evidence of mutations inRIC3acetylcholine receptor chaperone as a novel cause of autosomal-dominant Parkinson's disease with non-motor phenotypes

(2016) Sumedha Sudhaman et al.   JOURNAL OF MEDICAL GENETICS

Identification of TMEM230 mutations in familial Parkinson's disease

(2016) Han-Xiang Deng et al.   NATURE GENETICS

The Evolution of Genetics: Alzheimer’s and Parkinson’s Diseases

(2016) Andrew Singleton et al.   NEURON

Autosomal dominant Parkinson's disease caused by SNCA duplications

(2016) Takuya Konno et al.   PARKINSONISM & RELATED DISORDERS

RAB39B gene mutations are not linked to familial Parkinson’s disease in China

(2016) Ji-feng Kang et al.   Scientific Reports

Polygenic risk of Parkinson disease is correlated with disease age at onset

(2015) Valentina Escott-Price et al.   ANNALS OF NEUROLOGY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

MDS clinical diagnostic criteria for Parkinson's disease

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

Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR

(2015) Hui Yang et al.   Nature Protocols

Mutation analysis of CHCHD2 gene in Chinese familial Parkinson's disease

(2015) Zhenhua Liu et al.   NEUROBIOLOGY OF AGING

Differential effects of severe vs mild GBA mutations on Parkinson disease

(2015) Z. Gan-Or et al.   NEUROLOGY

Toward better understanding of artifacts in variant calling from high-coverage samples

(2014) Heng Li   BIOINFORMATICS

Monogenic Parkinson's disease and parkinsonism: Clinical phenotypes and frequencies of known mutations

(2013) Andreas Puschmann   PARKINSONISM & RELATED DISORDERS

Genetics of Parkinson's disease – state of the art, 2013

(2013) Vincenzo Bonifati   PARKINSONISM & RELATED DISORDERS

PLA2G6 gene mutation in autosomal recessive early-onset parkinsonism in a Chinese cohort

(2011) C.- h. Shi et al.   NEUROLOGY

Predictors of Parkin Mutations in Early-Onset Parkinson Disease

(2010) Karen S. Marder et al.   ARCHIVES OF NEUROLOGY

Frequency of Known Mutations in Early-Onset Parkinson Disease

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

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

(2010) A. McKenna et al.   GENOME RESEARCH

Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease

(2010) Suzanne Lesage et al.   HUMAN MOLECULAR GENETICS

Mutation analysis of Parkin, PINK1 and DJ-1 genes in Chinese patients with sporadic early onset parkinsonism

(2010) Ji-feng Guo et al.   JOURNAL OF NEUROLOGY

Glucocerebrosidase Gene L444P mutation is a risk factor for Parkinson's disease in Chinese population

(2010) Qi-Ying Sun et al.   MOVEMENT DISORDERS

Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease

(2010) Jan O. Aasly et al.   MOVEMENT DISORDERS

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

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

Analysis of SCA2 and SCA3/MJD repeats in Parkinson's disease in mainland China: Genetic, clinical, and positron emission tomography findings

(2009) Jun-Ling Wang et al.   MOVEMENT DISORDERS

Expanding the clinical phenotype of SNCA duplication carriers

(2009) Kenya Nishioka et al.   MOVEMENT DISORDERS

A novel LRRK2 mutation in a mainland Chinese patient with familial Parkinson's disease

(2009) Lei Wang et al.   NEUROSCIENCE LETTERS

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

(2009) E. Sidransky et al.   NEW ENGLAND JOURNAL OF MEDICINE

The prevalence of the G2019S and R1441C/G/H mutations in LRRK2 in German patients with Parkinson’s disease

(2008) J. C. Möller et al.   EUROPEAN JOURNAL OF NEUROLOGY

Mutation analysis ofParkin,PINK1,DJ-1andATP13A2genes in Chinese patients with autosomal recessive early-onset Parkinsonism

(2008) Ji-Feng Guo et al.   MOVEMENT DISORDERS

Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease

(2008) K. Haugarvoll et al.   NEUROLOGY