Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders

Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation

(2012) Johann Böhm et al.   ACTA NEUROPATHOLOGICA

Next generation sequencing for molecular diagnosis of neuromuscular diseases

(2012) Nasim Vasli et al.   ACTA NEUROPATHOLOGICA

Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular Aggregates

(2012) Katsiaryna Belaya et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing

(2012) Eri Kondo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin

(2012) Simon Edvardson et al.   ANNALS OF NEUROLOGY

Trusting new age weapons to tackle titin

(2012) K. J. Nowak   BRAIN

Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin

(2012) Monica Ohlsson et al.   BRAIN

Titin mutation segregates with hereditary myopathy with early respiratory failure

(2012) Gerald Pfeffer et al.   BRAIN

Next-generation sequencing: ready for the clinics?

(2012) AN Desai et al.   CLINICAL GENETICS

Genetics of neuromuscular disorders

(2012) Nigel G. Laing   CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES

Congenital Myopathies: An Update

(2012) Jessica R. Nance et al.   Current Neurology and Neuroscience Reports

The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe

(2012) Ros Hastings et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Disease gene identification strategies for exome sequencing

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

DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study

(2012) Glenn E. Palomaki 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 analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia

(2012) Cristina Dias et al.   HUMAN MUTATION

Non-invasive prenatal measurement of the fetal genome

(2012) H. Christina Fan et al.   NATURE

Performance comparison of benchtop high-throughput sequencing platforms

(2012) Nicholas J Loman et al.   NATURE BIOTECHNOLOGY

Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy

(2012) M. B. Harms et al.   NEUROLOGY

SMN1 gene duplications are associated with sporadic ALS

(2012) H. M. Blauw et al.   NEUROLOGY

SIMPLEX: Cloud-Enabled Pipeline for the Comprehensive Analysis of Exome Sequencing Data

(2012) Maria Fischer et al.   PLoS One

Charcot-marie-tooth disease subtypes and genetic testing strategies

(2011) Anita S.D. Saporta 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

Exome sequencing: Dual role as a discovery and diagnostic tool

(2011) Chee-Seng Ku et al.   ANNALS OF NEUROLOGY

Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy

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

Validation of comparative genomic hybridization arrays for the detection of genomic rearrangements of the calpain-3 and dysferlin genes

(2011) M Bartoli et al.   CLINICAL GENETICS

Next-generation sequencing in molecular diagnosis:NUBPLmutations highlight the challenges of variant detection and interpretation

(2011) Elena J. Tucker et al.   HUMAN MUTATION

Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform

(2011) B. C. Lim et al.   JOURNAL OF MEDICAL GENETICS

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

An integrated semiconductor device enabling non-optical genome sequencing

(2011) Jonathan M. Rothberg et al.   NATURE

Performance comparison of exome DNA sequencing technologies

(2011) Michael J Clark et al.   NATURE BIOTECHNOLOGY

The 2012 version of the gene table of monogenic neuromuscular disorders

(2011)   NEUROMUSCULAR DISORDERS

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

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

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

The real cost of sequencing: higher than you think!

(2011) Andrea Sboner et al.   GENOME BIOLOGY

Perspectives and diagnostic considerations in spinal muscular atrophy

(2010) Thomas W Prior   GENETICS IN MEDICINE

Massively parallel sequencing of ataxia genes after array-based enrichment

(2010) Alexander Hoischen et al.   HUMAN MUTATION

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

(2010) Yingrui Li et al.   NATURE GENETICS

Target-enrichment strategies for next-generation sequencing

(2010) Lira Mamanova et al.   NATURE METHODS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations

(2010) Valérie Tosch et al.   NEUROMUSCULAR DISORDERS

Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

(2010) James R. Lupski et al.   NEW ENGLAND JOURNAL OF MEDICINE

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Molecular prenatal diagnosis: the impact of modern technologies

(2010) F. Lucy Raymond et al.   PRENATAL DIAGNOSIS

TARDBP 3′-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy

(2009) Michael A. Gitcho et al.   ACTA NEUROPATHOLOGICA

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

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

How to map billions of short reads onto genomes

(2009) Cole Trapnell et al.   NATURE BIOTECHNOLOGY

Microdroplet-based PCR enrichment for large-scale targeted sequencing

(2009) Ryan Tewhey et al.   NATURE BIOTECHNOLOGY

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Sequencing technologies — the next generation

(2009) Michael L. Metzker   NATURE REVIEWS GENETICS

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

(2009) Murim Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays

(2009) R. Drmanac et al.   SCIENCE

Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

(2009) T. J. Kwiatkowski et al.   SCIENCE

A high-resolution, nucleosome position map of C. elegans reveals a lack of universal sequence-dictated positioning

(2008) A. Valouev et al.   GENOME RESEARCH

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene

(2008) Laura Alías et al.   HUMAN GENETICS

Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives

(2008) Paal Skytt Andersen et al.   HUMAN MUTATION

The complete genome of an individual by massively parallel DNA sequencing

(2008) David A. Wheeler et al.   NATURE

Accurate whole human genome sequencing using reversible terminator chemistry

(2008) David R. Bentley et al.   NATURE

Identification of genetic variants using bar-coded multiplexed sequencing

(2008) David W Craig et al.   NATURE METHODS

Bioinformatics challenges of new sequencing technology

(2008) Mihai Pop et al.   TRENDS IN GENETICS