Genetics of movement disorders in the next-generation sequencing era

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

(2015) Jessica X. Chong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia

(2015) Niccolo E. Mencacci et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in HPCA Cause Autosomal-Recessive Primary Isolated Dystonia

(2015) Gavin Charlesworth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recessive Mutations in the α3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia

(2015) Michael Zech et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology

(2015) Christelle Tesson et al.   HUMAN GENETICS

Missense mutations inTENM4, a regulator of axon guidance and central myelination, cause essential tremor

(2015) Hyun Hor et al.   HUMAN MOLECULAR GENETICS

New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, a Web-Based Tool for Linking Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

(2015) Kym Boycott et al.   JOURNAL OF MEDICAL GENETICS

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

(2015) Manabu Funayama et al.   LANCET NEUROLOGY

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

(2015) Andrea Legati et al.   NATURE GENETICS

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

(2015) Axel Freischmidt et al.   NATURE NEUROSCIENCE

Return of genetic testing results in the era of whole-genome sequencing

(2015) Bartha Maria Knoppers et al.   NATURE REVIEWS GENETICS

Genetic linkage analysis in the age of whole-genome sequencing

(2015) Jurg Ott et al.   NATURE REVIEWS GENETICS

Parkinson's disease, genetic variability and the Faroe Islands

(2015) Maria Skaalum Petersen et al.   PARKINSONISM & RELATED DISORDERS

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

(2015) E. T. Cirulli et al.   SCIENCE

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

Cerebellar ataxia and functional genomics: Identifying the routes to cerebellar neurodegeneration

(2014) C.J.L.M. Smeets et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing

(2014)   GENETICS IN MEDICINE

Ade novoADCY5mutation causes early-onset autosomal dominant chorea and dystonia

(2014) Raphael Carapito et al.   MOVEMENT DISORDERS

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

Large-scale genomics unveils the genetic architecture of psychiatric disorders

(2014) Jacob Gratten et al.   NATURE NEUROSCIENCE

Statistical power and significance testing in large-scale genetic studies

(2014) Pak C. Sham et al.   NATURE REVIEWS GENETICS

An exome study of Parkinson’s disease in Sardinia, a Mediterranean genetic isolate

(2014) Marialuisa Quadri et al.   NEUROGENETICS

Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS

(2014) Bradley N. Smith et al.   NEURON

Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease

(2014) Hilal Unal Gulsuner et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

(2014) G. Novarino et al.   SCIENCE

Chromatin accessibility: a window into the genome

(2014) Maria Tsompana et al.   Epigenetics & Chromatin

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

(2014) Catherine A Brownstein et al.   GENOME BIOLOGY

Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia

(2014) Brent L. Fogel et al.   JAMA Neurology

Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation

(2013) Sabrina Dusi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

(2013) Andrea H. Németh et al.   BRAIN

Incidental findings in clinical genomics: a clarification

(2013)   GENETICS IN MEDICINE

In silico tools for splicing defect prediction: a survey from the viewpoint of end users

(2013) Xueqiu Jian et al.   GENETICS IN MEDICINE

ACMG clinical laboratory standards for next-generation sequencing

(2013) Heidi L. Rehm et al.   GENETICS IN MEDICINE

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

The application of next-generation sequencing in the autozygosity mapping of human recessive diseases

(2013) Fowzan S. Alkuraya   HUMAN GENETICS

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

DNAJC13 mutations in Parkinson disease

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

Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS)

(2013) Olena Korvatska et al.   HUMAN MOLECULAR GENETICS

Mutation in theSYNJ1Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism

(2013) Marialuisa Quadri et al.   HUMAN MUTATION

PhenoTips: Patient Phenotyping Software for Clinical and Research Use

(2013) Marta Girdea et al.   HUMAN MUTATION

The Sac1 Domain ofSYNJ1Identified Mutated in a Family with Early-Onset Progressive Parkinsonism with Generalized Seizures

(2013) Catharine E. Krebs et al.   HUMAN MUTATION

Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics

(2013) Birgit Sikkema-Raddatz et al.   HUMAN MUTATION

Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia

(2013) Kishore R. Kumar et al.   JOURNAL OF NEUROLOGY

A glimpse into past, present, and future DNA sequencing

(2013) Marcos Morey et al.   MOLECULAR GENETICS AND METABOLISM

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

(2013) Annika Keller et al.   NATURE GENETICS

Disease-targeted sequencing: a cornerstone in the clinic

(2013) Heidi L. Rehm   NATURE REVIEWS GENETICS

Mutations in COQ2 in Familial and Sporadic Multiple-System Atrophy

(2013)   NEW ENGLAND JOURNAL OF MEDICINE

DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation

(2013) Eugene Bragin et al.   NUCLEIC ACIDS RESEARCH

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

(2013) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

Identifying Personal Genomes by Surname Inference

(2013) M. Gymrek et al.   SCIENCE

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

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

Characterizing and measuring bias in sequence data

(2013) Michael G Ross et al.   GENOME BIOLOGY

The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation

(2013) Armand Valsesia et al.   Frontiers in Genetics

Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor

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

Mutations in ANO3 Cause Dominant Craniocervical Dystonia: Ion Channel Implicated in Pathogenesis

(2012) Gavin Charlesworth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in SLC30A10 Cause Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease

(2012) Marialuisa Quadri et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

(2012) Tobias B. Haack et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome

(2012) Sarah E. Heron et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in CIZ1 cause adult onset primary cervical dystonia

(2012) Jianfeng Xiao et al.   ANNALS OF NEUROLOGY

Whispering dysphonia (DYT4 dystonia) is caused by a mutation in theTUBB4gene

(2012) Katja Lohmann et al.   ANNALS OF NEUROLOGY

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia

(2012) Joshua Hersheson et al.   ANNALS OF NEUROLOGY

Disease gene identification strategies for exome sequencing

(2012) Christian Gilissen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The inherited ataxias: Genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics

(2012) Joshua Hersheson et al.   HUMAN MUTATION

PRRT2 Mutations are the major cause of benign familial infantile seizures

(2012) Julian Schubert et al.   HUMAN MUTATION

Next-generation sequencing demands next-generation phenotyping

(2012) Raoul C.M. Hennekam et al.   HUMAN MUTATION

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants

(2012) Claude Houdayer et al.   HUMAN MUTATION

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

Performance comparison of benchtop high-throughput sequencing platforms

(2012) Nicholas J Loman et al.   NATURE BIOTECHNOLOGY

Assuring the quality of next-generation sequencing in clinical laboratory practice

(2012) Amy S Gargis et al.   NATURE BIOTECHNOLOGY

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

(2012) Erin L Heinzen et al.   NATURE GENETICS

De novo mutations in human genetic disease

(2012) Joris A. Veltman et al.   NATURE REVIEWS GENETICS

PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine

(2012) C. Marini et al.   NEUROLOGY

PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine

(2012) R. Cloarec et al.   NEUROLOGY

PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions

(2012) R. van Vliet et al.   NEUROLOGY

Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification

(2012) G. Nicolas et al.   NEUROLOGY

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

Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions

(2012) Hsien-Yang Lee et al.   Cell Reports

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

The Tension Between Data Sharing and the Protection of Privacy in Genomics Research

(2011) Jane Kaye   Annual Review of Genomics and Human Genetics

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias

(2011) J.-L. Wang et al.   BRAIN

Performance of mutation pathogenicity prediction methods on missense variants

(2011) Janita Thusberg et al.   HUMAN MUTATION

Targeted genomic sequencing identifiesPRRT2mutations as a cause of paroxysmal kinesigenic choreoathetosis

(2011) Jingyun Li et al.   JOURNAL OF MEDICAL GENETICS

Applications of next-generation sequencing to phylogeography and phylogenetics

(2011) John E. McCormack et al.   MOLECULAR PHYLOGENETICS AND EVOLUTION

Performance comparison of whole-genome sequencing platforms

(2011) Hugo Y K Lam et al.   NATURE BIOTECHNOLOGY

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia

(2011) Wan-Jin Chen et al.   NATURE GENETICS

Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data

(2011) Gregory M. Cooper et al.   NATURE REVIEWS GENETICS

Exome sequencing as a tool for Mendelian disease gene discovery

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

Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing

(2011) C. J. Bell et al.   Science Translational Medicine

Pooled Association Tests for Rare Variants in Exon-Resequencing Studies

(2010) Alkes L. Price et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Massively parallel sequencing of ataxia genes after array-based enrichment

(2010) Alexander Hoischen et al.   HUMAN MUTATION

Target-enrichment strategies for next-generation sequencing

(2010) Lira Mamanova et al.   NATURE METHODS

Statistical analysis strategies for association studies involving rare variants

(2010) Vikas Bansal 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

Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

(2010) J. C. Roach et al.   SCIENCE

Metagenomic Pyrosequencing and Microbial Identification

(2009) J. F. Petrosino et al.   CLINICAL CHEMISTRY

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Sequencing technologies — the next generation

(2009) Michael L. Metzker   NATURE REVIEWS GENETICS

ChIP–seq: advantages and challenges of a maturing technology

(2009) Peter J. Park   NATURE REVIEWS GENETICS

Next-Generation DNA Sequencing Methods

(2008) Elaine R. Mardis   Annual Review of Genomics and Human Genetics

Qualifying the relationship between sequence conservation and molecular function

(2008) G. M. Cooper et al.   GENOME RESEARCH

RNA-Seq: a revolutionary tool for transcriptomics

(2008) Zhong Wang et al.   NATURE REVIEWS GENETICS