Next-generation sequencing in understanding complex neurological disease

Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome

(2012) Anna Schossig et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor

(2012) Nancy D. Merner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome Sequencing Followed by Large-Scale Genotyping Fails to Identify Single Rare Variants of Large Effect in Idiopathic Generalized Epilepsy

(2012) Erin L. Heinzen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The TRK-Fused Gene Is Mutated in Hereditary Motor and Sensory Neuropathy with Proximal Dominant Involvement

(2012) Hiroyuki Ishiura et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP

(2012) Krishna R. Veeramah et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1

(2012) Jie Zhou et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome Sequencing Identifies PDE4D Mutations in Acrodysostosis

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

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin

(2012) Simon Edvardson et al.   ANNALS OF NEUROLOGY

Mutations in CIZ1 cause adult onset primary cervical dystonia

(2012) Jianfeng Xiao et al.   ANNALS OF NEUROLOGY

Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation

(2012) Oliver P Forman et al.   BMC GENETICS

Leukoencephalopathy with thalamus and brainstem involvement and high lactate ‘LTBL’ caused by EARS2 mutations

(2012) Marjan E. Steenweg et al.   BRAIN

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

(2012) Janel O. Johnson et al.   BRAIN

Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene

(2012) Itai Berger et al.   EPILEPSIA

CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia

(2012) Hirotomo Saitsu et al.   EPILEPSIA

Identification of a novel Cys146X mutation of SOD1 in familial amyotrophic lateral sclerosis by whole-exome sequencing

(2012) Jinyu Wu et al.   GENETICS IN MEDICINE

Personal and population genomics of human regulatory variation

(2012) B. Vernot et al.   GENOME RESEARCH

Neonatal DNA methylation profile in human twins is specified by a complex interplay between intrauterine environmental and genetic factors, subject to tissue-specific influence

(2012) L. Gordon et al.   GENOME RESEARCH

Linking disease associations with regulatory information in the human genome

(2012) M. A. Schaub et al.   GENOME RESEARCH

Annotation of functional variation in personal genomes using RegulomeDB

(2012) A. P. Boyle et al.   GENOME RESEARCH

Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis

(2012) Sarah Herdewyn et al.   HUMAN MOLECULAR GENETICS

Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness

(2012) Sedigheh Delmaghani et al.   HUMAN MOLECULAR GENETICS

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

(2012) Sharita Timal et al.   HUMAN MOLECULAR GENETICS

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

(2012) Jose Bras et al.   HUMAN MOLECULAR GENETICS

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

(2012) Juliane Winkelmann et al.   HUMAN MOLECULAR GENETICS

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

(2012) Jenni M. Elo et al.   HUMAN MOLECULAR GENETICS

RBFOX1 regulates both splicing and transcriptional networks in human neuronal development

(2012) Brent L. Fogel et al.   HUMAN MOLECULAR GENETICS

Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth Disease

(2012) Byung-Ok Choi et al.   HUMAN MUTATION

Mutations ofANK3identified by exome sequencing are associated with autism susceptibility

(2012) Cheng Bi et al.   HUMAN MUTATION

NDesign: software for study design for the detection of rare variants from next-generation sequencing data

(2012) Yuki Sugaya et al.   JOURNAL OF HUMAN GENETICS

Clinical application of exome sequencing in undiagnosed genetic conditions

(2012) Anna C Need et al.   JOURNAL OF MEDICAL GENETICS

A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome

(2012) Lubov Blumkin et al.   JOURNAL OF NEUROLOGY

Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study

(2012) Hendrik Rosewich et al.   LANCET NEUROLOGY

High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease

(2012) C Pottier et al.   MOLECULAR PSYCHIATRY

A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy

(2012) Rita Horvath et al.   MOVEMENT DISORDERS

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

(2012) Chi-Hong Wu et al.   NATURE

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

Genome-wide association analysis identifies susceptibility loci for migraine without aura

(2012) Tobias Freilinger et al.   NATURE GENETICS

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

(2012) Erin L Heinzen et al.   NATURE GENETICS

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

(2012) Jijun Wan et al.   NATURE GENETICS

Genetics of gene expression in primary immune cells identifies cell type–specific master regulators and roles of HLA alleles

(2012) Benjamin P Fairfax et al.   NATURE GENETICS

Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke

(2012) Céline Bellenguez et al.   NATURE GENETICS

Mapping cis- and trans-regulatory effects across multiple tissues in twins

(2012) Elin Grundberg et al.   NATURE GENETICS

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

(2012) Jeong Ho Lee et al.   NATURE GENETICS

Whole-genome and whole-exome sequencing in neurological diseases

(2012) Jia-Nee Foo et al.   Nature Reviews Neurology

A new explanation for recessive myotonia congenita: Exon deletions and duplications in CLCN1

(2012) D. L. Raja Rayan et al.   NEUROLOGY

Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis

(2012) T. M. Pierson et al.   NEUROLOGY

Polymorphisms in the glial glutamate transporter SLC1A2 are associated with essential tremor

(2012) S. Thier et al.   NEUROLOGY

Exome sequencing identifies a novel multiple sclerosis susceptibility variant in the TYK2 gene

(2012) D. A. Dyment et al.   NEUROLOGY

Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases

(2012) A. Sailer et al.   NEUROLOGY

Role of common and rare APP DNA sequence variants in Alzheimer disease

(2012) B. V. Hooli et al.   NEUROLOGY

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

Mutation of the CLN6 Gene in Teenage-Onset Progressive Myoclonus Epilepsy

(2012) Danielle M. Andrade et al.   PEDIATRIC NEUROLOGY

Identification of a Novel Twinkle Mutation in a Family With Infantile Onset Spinocerebellar Ataxia by Whole Exome Sequencing

(2012) Halil Dündar et al.   PEDIATRIC NEUROLOGY

Deep Sequencing for the Detection of Virus-Like Sequences in the Brains of Patients with Multiple Sclerosis: Detection of GBV-C in Human Brain

(2012) John D. Kriesel et al.   PLoS One

Genome-Wide Association Study of Multiple Sclerosis Confirms a Novel Locus at 5p13.1

(2012) Fuencisla Matesanz et al.   PLoS One

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

Rare Variants in Ischemic Stroke: An Exome Pilot Study

(2012) John W. Cole et al.   PLoS One

Comment on "Widespread RNA and DNA Sequence Differences in the Human Transcriptome"

(2012) J. K. Pickrell et al.   SCIENCE

Comparison of Parallel High-Throughput RNA Sequencing Between Knockout of TDP-43 and Its Overexpression Reveals Primarily Nonreciprocal and Nonoverlapping Gene Expression Changes in the Central Nervous System of Drosophila

(2012) Dennis J. Hazelett et al.   G3-Genes Genomes Genetics

Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's Disease Genetics: The PDGene Database

(2012) Christina M. Lill et al.   PLoS Genetics

Whole-Exome Sequencing and Homozygosity Analysis Implicate Depolarization-Regulated Neuronal Genes in Autism

(2012) Maria H. Chahrour et al.   PLoS Genetics

Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel

(2011) Abel González-Pérez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rare variants in the CYP27B1 gene are associated with multiple sclerosis

(2011) Sreeram V. Ramagopalan et al.   ANNALS OF NEUROLOGY

Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci

(2011) Nikolaos A. Patsopoulos et al.   ANNALS OF NEUROLOGY

Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family

(2011) Gladys Montenegro et al.   ANNALS OF NEUROLOGY

Meta-analysis of Parkinson's Disease: Identification of a novel locus, RIT2

(2011) Nathan Pankratz et al.   ANNALS OF NEUROLOGY

Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy

(2011) Matthew B. Harms et al.   ANNALS OF NEUROLOGY

Statistical analysis of rare sequence variants: an overview of collapsing methods

(2011) Carmen Dering et al.   GENETIC EPIDEMIOLOGY

Linkage Analysis in the Next-Generation Sequencing Era

(2011) Joan E. Bailey-Wilson et al.   HUMAN HEREDITY

Two-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese

(2011) Youling Guo et al.   HUMAN MOLECULAR GENETICS

Chromosome 7p11.2 (EGFR) variation influences glioma risk

(2011) Marc Sanson et al.   HUMAN MOLECULAR GENETICS

RNA integrity in post-mortem samples: influencing parameters and implications on RT-qPCR assays

(2011) Antje Koppelkamm et al.   INTERNATIONAL JOURNAL OF LEGAL MEDICINE

Studying the epigenome using next generation sequencing

(2011) C. S. Ku et al.   JOURNAL OF MEDICAL GENETICS

Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies

(2011)   LANCET

Genome-wide association analysis of age-at-onset in Alzheimer's disease

(2011) M I Kamboh et al.   MOLECULAR PSYCHIATRY

Genetic diagnosis of neuroacanthocytosis disorders using exome sequencing

(2011) Ruth H. Walker et al.   MOVEMENT DISORDERS

Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing

(2011) Adriano Jimenez-Escrig et al.   MUSCLE & NERVE

Spatio-temporal transcriptome of the human brain

(2011) Hyo Jung Kang et al.   NATURE

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

(2011) Stephen Sawcer et al.   NATURE

A decade’s perspective on DNA sequencing technology

(2011) Elaine R. Mardis   NATURE

Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing

(2011) Joke Reumers et al.   NATURE BIOTECHNOLOGY

Common variation at 10p12.31 near MLLT10 influences meningioma risk

(2011) Sara E Dobbins et al.   NATURE GENETICS

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

(2011) Günter U Höglinger et al.   NATURE GENETICS

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease

(2011) Adam C Naj et al.   NATURE GENETICS

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

(2011) Paul Hollingworth et al.   NATURE GENETICS

Genome-wide association study reveals three susceptibility loci for common migraine in the general population

(2011) Daniel I Chasman et al.   NATURE GENETICS

Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry

(2011) Karen A Hunt et al.   NATURE GENETICS

Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk

(2011) Pascual Sanchez-Juan et al.   NEUROBIOLOGY OF AGING

Whole Transcriptome Sequencing Reveals Gene Expression and Splicing Differences in Brain Regions Affected by Alzheimer's Disease

(2011) Natalie A. Twine et al.   PLoS One

Copy Number Variation in Familial Parkinson Disease

(2011) Nathan Pankratz et al.   PLoS One

RNA-Seq of Human Neurons Derived from iPS Cells Reveals Candidate Long Non-Coding RNAs Involved in Neurogenesis and Neuropsychiatric Disorders

(2011) Mingyan Lin et al.   PLoS One

Convergence of miRNA Expression Profiling, α-Synuclein Interacton and GWAS in Parkinson's Disease

(2011) Madalena Martins et al.   PLoS One

Promise and pitfalls of the Immunochip

(2011) Adrian Cortes et al.   ARTHRITIS RESEARCH & THERAPY

Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association data

(2011) Joanne H Wang et al.   Genome Medicine

Synthetic Associations Are Unlikely to Account for Many Common Disease Genome-Wide Association Signals

(2011) Carl A. Anderson et al.   PLOS BIOLOGY

Genome-Wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12.1

(2011) Juliane Winkelmann et al.   PLoS Genetics

Web-Based Genome-Wide Association Study Identifies Two Novel Loci and a Substantial Genetic Component for Parkinson's Disease

(2011) Chuong B. Do et al.   PLoS Genetics

Genome-wide Association Study in a High-Risk Isolate for Multiple Sclerosis Reveals Associated Variants in STAT3 Gene

(2010) Eveliina Jakkula et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Replication Strategies for Rare Variant Complex Trait Association Studies via Next-Generation Sequencing

(2010) Dajiang J. Liu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genome-Wide Association Study Confirms SNPs inSNCAand theMAPTRegion as Common Risk Factors for Parkinson Disease

(2010) Todd L. Edwards et al.   ANNALS OF HUMAN GENETICS

Contribution of genetic, epigenetic and transcriptomic differences to twin discordance in multiple sclerosis

(2010) Lahiru Handunnetthi et al.   Expert Review of Neurotherapeutics

A ChIP-seq defined genome-wide map of vitamin D receptor binding: Associations with disease and evolution

(2010) S. V. Ramagopalan et al.   GENOME RESEARCH

A genome-wide scan for common alleles affecting risk for autism

(2010) R. Anney et al.   HUMAN MOLECULAR GENETICS

The multiple sclerosis whole blood mRNA transcriptome and genetic associations indicate dysregulation of specific T cell pathways in pathogenesis

(2010) Kaushal S. Gandhi et al.   HUMAN MOLECULAR GENETICS

Direct-to-consumer personal genome testing: ethical and regulatory issues that arise from wanting to ‘know’ your DNA

(2010) G. N. Samuel et al.   INTERNAL MEDICINE JOURNAL

Genome-wide Analysis of Genetic Loci Associated With Alzheimer Disease

(2010) Sudha Seshadri   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Evidence for VAV2 and ZNF433 as susceptibility genes for multiple sclerosis

(2010) Sandra Nischwitz et al.   JOURNAL OF NEUROIMMUNOLOGY

Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study

(2010) Hannu Laaksovirta et al.   LANCET NEUROLOGY

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

(2010) Aleksey Shatunov et al.   LANCET NEUROLOGY

The human genome at ten

(2010)   NATURE

Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis

(2010) Sergio E. Baranzini et al.   NATURE

Functionally defective germline variants of sialic acid acetylesterase in autoimmunity

(2010) Ira Surolia et al.   NATURE

Integrative genomics identifies LMO1 as a neuroblastoma oncogene

(2010) Kai Wang et al.   NATURE

Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1

(2010) Verneri Anttila et al.   NATURE GENETICS

Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis

(2010) Serena Sanna et al.   NATURE GENETICS

Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy

(2010) Hyun Hor et al.   NATURE GENETICS

Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease

(2010) Taye H Hamza et al.   NATURE GENETICS

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

Pharmacogenomics: will the promise be fulfilled?

(2010) Russ B. Altman et al.   NATURE REVIEWS GENETICS

Uncovering the roles of rare variants in common disease through whole-genome sequencing

(2010) Elizabeth T. Cirulli et al.   NATURE REVIEWS GENETICS

The Effect of Single Nucleotide Polymorphisms from Genome Wide Association Studies in Multiple Sclerosis on Gene Expression

(2010) Adam E. Handel et al.   PLoS One

Rare Variants Create Synthetic Genome-Wide Associations

(2010) Samuel P. Dickson et al.   PLOS BIOLOGY

Dementia Revealed: Novel Chromosome 6 Locus for Late-Onset Alzheimer Disease Provides Genetic Evidence for Folate-Pathway Abnormalities

(2010) Adam C. Naj et al.   PLoS Genetics

Inflammation and brain injury: Acute cerebral ischaemia, peripheral and central inflammation

(2009) A. Denes et al.   BRAIN BEHAVIOR AND IMMUNITY

LRRK2 in Parkinson’s disease: genetic and clinical studies from patients

(2009) Udhaya Kumari et al.   FEBS Journal

Genome-wide analysis of allelic expression imbalance in human primary cells by high-throughput transcriptome resequencing

(2009) Graham A. Heap et al.   HUMAN MOLECULAR GENETICS

Genomic location analysis by ChIP-Seq

(2009) Artem Barski et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

Common genetic variants on 5p14.1 associate with autism spectrum disorders

(2009) Kai Wang et al.   NATURE

Variant in the sequence of the LINGO1 gene confers risk of essential tremor

(2009) Hreinn Stefansson et al.   NATURE GENETICS

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

(2009) Michael A van Es et al.   NATURE GENETICS

Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility

(2009) Margaret Wrensch et al.   NATURE GENETICS

Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20

(2009) Melanie Bahlo et al.   NATURE GENETICS

Common variations in BARD1 influence susceptibility to high-risk neuroblastoma

(2009) Mario Capasso et al.   NATURE GENETICS

Narcolepsy is strongly associated with the T-cell receptor alpha locus

(2009) Joachim Hallmayer et al.   NATURE GENETICS

Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci

(2009) Philip L De Jager et al.   NATURE GENETICS

Genome-wide association study identifies five susceptibility loci for glioma

(2009) Sanjay Shete et al.   NATURE GENETICS

Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

(2009) Denise Harold et al.   NATURE GENETICS

Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease

(2009) Wataru Satake et al.   NATURE GENETICS

Genome-wide association study reveals genetic risk underlying Parkinson's disease

(2009) Javier Simón-Sánchez et al.   NATURE GENETICS

Genomewide Association Studies of Stroke

(2009) M. Arfan Ikram et al.   NEW ENGLAND JOURNAL OF MEDICINE

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

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

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

(2009) J. E. Landers et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

(2009) L. A. Hindorff et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Rare Variants of IFIH1, a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes

(2009) S. Nejentsev et al.   SCIENCE

Epigenetics: molecular mechanisms and implications for disease

(2009) Adam E. Handel et al.   TRENDS IN MOLECULAR MEDICINE

Risk variants for atrial fibrillation on chromosome 4q25 associate with ischemic stroke

(2008) Solveig Gretarsdottir et al.   ANNALS OF NEUROLOGY

The vascular risk associations with migraine: Relation to migraine susceptibility and progression

(2008) Sherifa A. Hamed   ATHEROSCLEROSIS

Changes in HIV Testing Policies and the Implications for Women

(2008) S MAMAN et al.   JOURNAL OF MIDWIFERY & WOMENS HEALTH

Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study

(2008) Daniel G Healy et al.   LANCET NEUROLOGY

Genetic risk factors for variant Creutzfeldt–Jakob disease: a genome-wide association study

(2008) Simon Mead et al.   LANCET NEUROLOGY

Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis

(2008) Yurii S Aulchenko et al.   NATURE GENETICS

PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome

(2008) Barbara Schormair et al.   NATURE GENETICS

Variant between CPT1B and CHKB associated with susceptibility to narcolepsy

(2008) Taku Miyagawa et al.   NATURE GENETICS

RNA-Seq: a revolutionary tool for transcriptomics

(2008) Zhong Wang et al.   NATURE REVIEWS GENETICS