GCH1 variants contribute to the risk and earlier age-at-onset of Parkinson’s disease: a two-cohort case-control study

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

The genetic architecture of Parkinson's disease

(2019) Cornelis Blauwendraat et al.   LANCET NEUROLOGY

The interplay of aging, genetics and environmental factors in the pathogenesis of Parkinson’s disease

(2019) Shirley Yin-Yu Pang et al.   Translational Neurodegeneration

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

Enhancers: bridging the gap between gene control and human disease

(2018) Jaret M Karnuta et al.   HUMAN MOLECULAR GENETICS

GCH1 mutations in dopa-responsive dystonia and Parkinson’s disease

(2018) Hiroyo Yoshino et al.   JOURNAL OF 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

Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy

(2018) Sheng Zeng et al.   JOURNAL OF MEDICAL GENETICS

Common and rare GCH1 variants are associated with Parkinson disease

(2018) Uladzislau Rudakou et al.   NEUROBIOLOGY OF AGING

Clinical characteristics of PD patients with LRRK2 G2385R and R1628P variants

(2018) Dongxiao Liang et al.   NEUROSCIENCE LETTERS

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

A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci

(2017) Diana Chang et al.   NATURE GENETICS

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

(2017) Jinchen Li et al.   NUCLEIC ACIDS RESEARCH

GCH1 mutations are common in Serbian patients with dystonia-parkinsonism: Challenging previously reported prevalence rates of DOPA-responsive dystonia

(2017) Valerija Dobričić et al.   PARKINSONISM & RELATED DISORDERS

GeneHancer: genome-wide integration of enhancers and target genes in GeneCards

(2017) Simon Fishilevich et al.   Database-The Journal of Biological Databases and Curation

Parkinson disease

(2017) Werner Poewe et al.   Nature Reviews Disease Primers

The role of gene variants in the pathogenesis of neurodegenerative disorders as revealed by next generation sequencing studies: a review

(2017) Shirley Yin-Yu Pang et al.   Translational Neurodegeneration

The epidemiology of Parkinson's disease: risk factors and prevention

(2016) Alberto Ascherio et al.   LANCET NEUROLOGY

Launching the movement disorders society genetic mutation database (MDSGene)

(2016) Christina M. Lill et al.   MOVEMENT DISORDERS

Variants in GBA , SNCA , and MAPT influence Parkinson disease risk, age at onset, and progression

(2016) Albert A. Davis et al.   NEUROBIOLOGY OF AGING

Low frequency of GCH1 and TH mutations in Parkinson's disease

(2016) Aina Rengmark et al.   PARKINSONISM & RELATED DISORDERS

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

Novel GCH1 variant in Dopa-responsive dystonia and Parkinson's disease

(2015) A.J. Lewthwaite et al.   PARKINSONISM & RELATED DISORDERS

Second-generation PLINK: rising to the challenge of larger and richer datasets

(2015) Christopher C Chang et al.   GigaScience

Parkinsonism in GTP cyclohydrolase 1 mutation carriers

(2014) Ilaria Guella et al.   BRAIN

Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers

(2014) Niccolò E. Mencacci et al.   BRAIN

Clinical Spectrum of Dopa-Responsive Dystonia and Related Disorders

(2014) Woong-Woo Lee et al.   Current Neurology and Neuroscience Reports

Sequence Kernel Association Tests for the Combined Effect of Rare and Common Variants

(2013) Iuliana Ionita-Laza et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

Optimal tests for rare variant effects in sequencing association studies

(2012) S. Lee et al.   BIOSTATISTICS

Critical evaluation of the Newcastle-Ottawa scale for the assessment of the quality of nonrandomized studies in meta-analyses

(2010) Andreas Stang   EUROPEAN JOURNAL OF EPIDEMIOLOGY

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

(2010) A. McKenna et al.   GENOME RESEARCH

Four novel mutations in the GCH1 gene of Chinese patients with dopa-responsive dystonia

(2010) Li Cao et al.   MOVEMENT DISORDERS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia

(2009) F. Clot et al.   BRAIN

UCSC genome browser tutorial

(2008) Ann S. Zweig et al.   GENOMICS