Discovery of a frameshift mutation in podocalyxin-like (PODXL) gene, coding for a neural adhesion molecule, as causal for autosomal-recessive juvenile Parkinsonism

CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study

(2015) Manabu Funayama et al.   LANCET NEUROLOGY

Progress in unraveling the genetic etiology of Parkinson disease in a genomic era

(2015) Aline Verstraeten et al.   TRENDS IN GENETICS

Population and genomic lessons from genetic analysis of two Indian populations

(2014) Garima Juyal et al.   HUMAN GENETICS

DJ-1Variants in Indian Parkinson’s Disease Patients

(2013) Tamal Sadhukhan et al.   DISEASE MARKERS

DNAJC13 mutations in Parkinson disease

(2013) Carles Vilariño-Güell et al.   HUMAN MOLECULAR GENETICS

Genetics of Parkinson's Disease

(2013) C. Klein et al.   Cold Spring Harbor Perspectives in Medicine

Innate Inflammation in Parkinson's Disease

(2013) V. H. Perry   Cold Spring Harbor Perspectives in Medicine

wANNOVAR: annotating genetic variants for personal genomes via the web

(2012) Xiao Chang et al.   JOURNAL OF MEDICAL GENETICS

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Fiji: an open-source platform for biological-image analysis

(2012) Johannes Schindelin et al.   NATURE METHODS

A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases

(2012) Miao-Xin Li et al.   NUCLEIC ACIDS RESEARCH

VPS35 Mutations in Parkinson Disease

(2011) Carles Vilariño-Güell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular pathogenesis of Parkinson's disease: update

(2011) Shinji Saiki et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Role of Mendelian genes in “sporadic” Parkinson's disease

(2011) Suzanne Lesage et al.   PARKINSONISM & RELATED DISORDERS

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update

(2010) Karen Nuytemans et al.   HUMAN MUTATION

Ventricular enlargement and mild cognitive impairment in early Parkinson's disease

(2010) Turi O. Dalaker et al.   MOVEMENT DISORDERS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Podocalyxin Is a Novel Polysialylated Neural Adhesion Protein with Multiple Roles in Neural Development and Synapse Formation

(2010) Nathalia Vitureira et al.   PLoS One

Mendelian forms of Parkinson's disease

(2009) Thomas Gasser   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Asymmetrical lateral ventricular enlargement in Parkinson’s disease

(2009) M. M. Lewis et al.   EUROPEAN JOURNAL OF NEUROLOGY

Ventricular enlargement associated with the panneural ablation of the podocalyxin gene

(2009) Adam Nowakowski et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations

(2009) N. Pankratz et al.   NEUROLOGY

Evaluation of PINK1 variants in Indian Parkinson's disease patients

(2009) Arindam Biswas et al.   PARKINSONISM & RELATED DISORDERS