Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

(2015) Xiaolin Zhu et al.   GENETICS IN MEDICINE

A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome

(2015) M. Dusl et al.   HUMAN MOLECULAR GENETICS

A new method for SMN1 and hybrid SMN gene analysis in spinal muscular atrophy using long-range PCR followed by sequencing

(2015) Yuji Kubo et al.   JOURNAL OF HUMAN GENETICS

Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders

(2015) Jong Hee Chae et al.   JOURNAL OF MEDICAL GENETICS

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy

(2015) Rabi Tawil et al.   NEUROLOGY

New developments in exon skipping and splice modulation therapies for neuromuscular diseases

(2014) Aleksander Touznik et al.   EXPERT OPINION ON BIOLOGICAL THERAPY

Inherited disorders of the neuromuscular junction: an update

(2014) Pedro M. Rodríguez Cruz et al.   JOURNAL OF NEUROLOGY

Diagnostic approach to the congenital muscular dystrophies

(2014) Carsten G. Bönnemann et al.   NEUROMUSCULAR DISORDERS

Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype

(2014) Edoardo Malfatti et al.   Acta Neuropathologica Communications

ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies

(2013) Sebahattin Cirak et al.   BRAIN

Leigh syndrome with Fukuyama congenital muscular dystrophy: A case report

(2013) Hidehito Kondo et al.   BRAIN & DEVELOPMENT

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

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

Position of Glycine Substitutions in the Triple Helix of COL6A1 , COL6A2 , and COL6A3 is Correlated with Severity and Mode of Inheritance in Collagen VI Myopathies

(2013) Russell J. Butterfield et al.   HUMAN MUTATION

Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom

(2013) L. Maggi et al.   NEUROMUSCULAR DISORDERS

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

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

Comprehensive Mutation Analysis for Congenital Muscular Dystrophy: A Clinical PCR-Based Enrichment and Next-Generation Sequencing Panel

(2013) C. Alexander Valencia et al.   PLoS One

An Integrated Diagnosis Strategy for Congenital Myopathies

(2013) Johann Böhm et al.   PLoS One

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

Genetics of neuromuscular disorders

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

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

(2012) William A. Gahl et al.   GENETICS IN MEDICINE

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

(2011) Xiaoming Liu et al.   HUMAN MUTATION

Early onset collagen VI myopathies: Genetic and clinical correlations

(2010) Laura Briñas et al.   ANNALS OF NEUROLOGY

Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center

(2010) Yasuhiro Takeshima et al.   JOURNAL OF HUMAN GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea

(2010) Bung Chan Lim et al.   NEUROMUSCULAR DISORDERS

Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations

(2010) Fatemeh Geranmayeh et al.   NEUROMUSCULAR DISORDERS

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

(2010) Eugene V. Davydov et al.   PLoS Computational Biology

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Congenital myopathies

(2008) Adele D’Amico et al.   Current Neurology and Neuroscience Reports

Limb–girdle muscular dystrophy: Diagnostic evaluation, frequency and clues to pathogenesis

(2007) Harriet P. Lo et al.   NEUROMUSCULAR DISORDERS