Whole-Exome Sequencing in Searching for New Variants Associated With the Development of Parkinson’s Disease

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

(2016) Nilah M. Ioannidis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

(2016) Suzanne Lesage et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic Mutation Analysis of Parkinson’s Disease Patients Using Multigene Next-Generation Sequencing Panels

(2016) Ana Gorostidi et al.   Molecular Diagnosis & Therapy

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

PTRHD1(C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism

(2016) Hamidreza Khodadadi et al.   MOVEMENT DISORDERS

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

(2016) Andrew Singleton et al.   NEURON

Whole-Exome Sequencing in Familial Parkinson Disease

(2016) Janice L. Farlow et al.   JAMA Neurology

SCN4Apore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy

(2015) Alberto Bergareche et al.   HUMAN MOLECULAR GENETICS

LRRK2 A419V variant is a risk factor for Parkinson's disease in Asian population

(2015) Kai Li et al.   NEUROBIOLOGY OF AGING

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

(2015) C. Dong et al.   HUMAN MOLECULAR GENETICS

Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology

(2014) Gabrielle R. Wilson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Gain-of-function mutations in sodium channel NaV1.9 in painful neuropathy

(2014) Jianying Huang et al.   BRAIN

Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations

(2014) Barbara Vona et al.   GENETICS IN MEDICINE

The usefulness of whole-exome sequencing in routine clinical practice

(2014) Alejandro Iglesias et al.   GENETICS IN MEDICINE

Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing

(2014) Frederic R. Acke et al.   MOLECULAR GENETICS AND METABOLISM

Analysis of mutations in patients with suspected autosomal dominant forms of Parkinson’s disease

(2014) E. V. Filatova et al.   Molecular Genetics Microbiology and Virology

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes

(2013) Linda M. Reis et al.   HUMAN GENETICS

dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations

(2013) Xiaoming Liu et al.   HUMAN MUTATION

Parkinsonism syndrome in heterozygotes for Niemann–Pick C1

(2013) Hans H. Kluenemann et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Prediction of Deleterious Nonsynonymous Single-Nucleotide Polymorphism for Human Diseases

(2013) Jiaxin Wu et al.   TheScientificWorldJOURNAL

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing

(2013) Jason O'Rawe et al.   Genome Medicine

Neurological perspectives on voltage-gated sodium channels

(2012) N. Eijkelkamp et al.   BRAIN

Sodium channels and the neurobiology of epilepsy

(2012) Megan Oliva et al.   EPILEPSIA

Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease

(2012) M. F. Keller et al.   HUMAN MOLECULAR GENETICS

A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism

(2012) Simon Edvardson et al.   PLoS One

Gain-of-function Nav1.8 mutations in painful neuropathy

(2012) C. G. Faber et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort

(2012) Sheng Jin et al.   Alzheimers Research & Therapy

A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease

(2011) Alexander Zimprich et al.   AMERICAN JOURNAL OF HUMAN GENETICS

VPS35 Mutations in Parkinson Disease

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

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case–control study

(2011) Owen A Ross et al.   LANCET NEUROLOGY

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

A statistical method for the detection of variants from next-generation resequencing of DNA pools

(2010) V. Bansal   BIOINFORMATICS

The heritability of risk and age at onset of Parkinson's disease after accounting for known genetic risk factors

(2010) Taye H Hamza et al.   JOURNAL OF HUMAN GENETICS

Voltage-sensor mutations in channelopathies of skeletal muscle

(2010) Stephen C. Cannon   JOURNAL OF PHYSIOLOGY-LONDON

Sodium channelopathies of skeletal muscle result from gain or loss of function

(2010) Karin Jurkat-Rott et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Depression and psychiatric symptoms preceding onset of dementia in a family with early-onset Alzheimer disease with a novel PSEN1 mutation

(2009) Kensaku Kasuga et al.   JOURNAL OF NEUROLOGY

Isolated eyelid closure myotonia in two families with sodium channel myotonia

(2009) B. C. Stunnenberg et al.   NEUROGENETICS

Navigating the channels and beyond: unravelling the genetics of the epilepsies

(2008) Ingo Helbig et al.   LANCET NEUROLOGY

Mechanisms of human inherited epilepsies

(2008) Christopher A. Reid et al.   PROGRESS IN NEUROBIOLOGY