Next Generation Sequencing and the Future of Genetic Diagnosis

Exome sequencing identifies a de novoSCN2Amutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities

(2014) Anna-Lena Baasch et al.   EPILEPSIA

The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied and treated

(2014) Matthew Might et al.   GENETICS IN MEDICINE

The Genome Clinic: A Multidisciplinary Approach to Assessing the Opportunities and Challenges of Integrating Genomic Analysis into Clinical Care

(2014) Sarah Bowdin et al.   HUMAN MUTATION

Integrating Massively Parallel Sequencing into Diagnostic Workflows and Managing the Annotation and Clinical Interpretation Challenge

(2014) Karin S. Kassahn et al.   HUMAN MUTATION

Methods-Based Proficiency Testing in Molecular Genetic Pathology

(2014) Iris Schrijver et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Megalencephaly Syndromes: Exome Pipeline Strategies for Detecting Low-Level Mosaic Mutations

(2014) William J. Tapper et al.   PLoS One

A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum

(2013) Cas Simons et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing

(2013) Yong-hui Jiang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome Sequencing Identifies GNB4 Mutations as a Cause of Dominant Intermediate Charcot-Marie-Tooth Disease

(2013) Bing-Wen Soong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

(2013) Arvid Suls et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes

(2013) Michael O. Dorschner 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

Recommendations for returning genomic incidental findings? We need to talk!

(2013) Wylie Burke et al.   GENETICS IN MEDICINE

Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing

(2013) Layla Shahmirzadi et al.   GENETICS IN MEDICINE

ACMG recommendations on incidental findings are flawed scientifically and ethically

(2013) Neil A. Holtzman   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

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

(2013) David N. Cooper et al.   HUMAN GENETICS

The Finnish Disease Heritage Database (FinDis) Update-A Database for the Genes Mutated in the Finnish Disease Heritage Brought to the Next-Generation Sequencing Era

(2013) Anne Polvi et al.   HUMAN MUTATION

Large Numbers of Genetic Variants Considered to be Pathogenic are Common in Asymptomatic Individuals

(2013) Christopher A. Cassa et al.   HUMAN MUTATION

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

(2013) Kornelia Neveling et al.   HUMAN MUTATION

High rate of mosaicism in individuals with Cornelia de Lange syndrome

(2013) Sylvia A Huisman et al.   JOURNAL OF MEDICAL GENETICS

No mutations in CIZ1 in twelve adult-onset primary cervical dystonia families

(2013) Lingyan Ma et al.   MOVEMENT DISORDERS

Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls

(2013) Michael Zech et al.   MOVEMENT DISORDERS

Dysfunctional nitric oxide signalling increases risk of myocardial infarction

(2013) Jeanette Erdmann et al.   NATURE

Validation of next-generation sequencing technologies in genetic diagnosis of dementia

(2013) John Beck et al.   NEUROBIOLOGY OF AGING

Forty-five years to diagnosis

(2013) Jeanette Erdmann et al.   NEUROMUSCULAR DISORDERS

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene

(2013) K. M. Nishiguchi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Novel OPA3 Mutation Revealed by Exome Sequencing

(2013) Beenish Arif et al.   JAMA Neurology

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

Exome sequencing for gene discovery: Time to set standard criteria

(2012) Christine Klein et al.   ANNALS OF NEUROLOGY

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

(2012) Katja Lohmann et al.   ANNALS OF NEUROLOGY

Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation

(2012) Jacob J. Michaelson et al.   CELL

Direct to consumer genetic testing: a systematic review of position statements, policies and recommendations

(2012) H Skirton et al.   CLINICAL GENETICS

Genetics of Parkinson disease and other movement disorders

(2012) Kishore R. Kumar et al.   CURRENT OPINION IN NEUROLOGY

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

(2012) Johannes R. Lemke et al.   EPILEPSIA

Disease gene identification strategies for exome sequencing

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

Improving the efficiency and relevance of evidence-based recommendations in the era of whole-genome sequencing: an EGAPP methods update

(2012) David L. Veenstra et al.   GENETICS IN MEDICINE

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

An expansive human regulatory lexicon encoded in transcription factor footprints

(2012) Shane Neph et al.   NATURE

Mutations in GNAL cause primary torsion dystonia

(2012) Tania Fuchs et al.   NATURE GENETICS

De novo mutations in human genetic disease

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

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

(2012) C. J. Saunders et al.   Science Translational Medicine

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

A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions

(2011) Kaja K Selmer et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Performance of mutation pathogenicity prediction methods on missense variants

(2011) Janita Thusberg et al.   HUMAN MUTATION

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies

(2011) Alistair T Pagnamenta et al.   JOURNAL OF HUMAN GENETICS

From GWAS to clinical utility in Parkinson's disease

(2011) Christine Klein et al.   LANCET

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

(2011)   LANCET

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

Unlocking Mendelian disease using exome sequencing

(2011) Christian Gilissen et al.   GENOME BIOLOGY

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

High-throughput sequencing of microdissected chromosomal regions

(2009) Anja Weise et al.   EUROPEAN JOURNAL OF HUMAN GENETICS