Next-generation sequencing in childhood disorders

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

(2013) Andrea H. Németh et al.   BRAIN

Informed consent for whole-genome sequencing studies in the clinical setting. Proposed recommendations on essential content and process

(2013) Carmen Ayuso et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders

(2013) Hong Cui et al.   GENETICS IN MEDICINE

Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

(2013) Timothy W. Yu et al.   NEURON

De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

(2012) Wendy D. Jones et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disruption of a Large Intergenic Noncoding RNA in Subjects with Neurodevelopmental Disabilities

(2012) Michael E. Talkowski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth

(2012) Menachem Fromer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing

(2012) Isabelle Schrauwen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

(2012) Vincent Plagnol et al.   BIOINFORMATICS

A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective

(2012) Whitney L Wooderchak-Donahue et al.   BMC Medical Genomics

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease

(2012) Morag E Shanks et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Disease gene identification strategies for exome sequencing

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

Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin

(2012) Wayne I.L. Davies et al.   GENETICS IN MEDICINE

Copy number variation detection and genotyping from exome sequence data

(2012) N. Krumm et al.   GENOME RESEARCH

Sequencing the unsequenceable: Expanded CGG-repeat alleles of the fragile X gene

(2012) E. W. Loomis et al.   GENOME RESEARCH

Regulatory variations in the era of next-generation sequencing: Implications for clinical molecular diagnostics

(2012) Olga Jarinova et al.   HUMAN MUTATION

Next-generation genetic testing for retinitis pigmentosa

(2012) Kornelia Neveling et al.   HUMAN MUTATION

A paradigm shift in the delivery of services for diagnosis of inherited retinal disease

(2012) James O'Sullivan et al.   JOURNAL OF MEDICAL GENETICS

Clinical application of exome sequencing in undiagnosed genetic conditions

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

Assessment of Target Enrichment Platforms Using Massively Parallel Sequencing for the Mutation Detection for Congenital Muscular Dystrophy

(2012) C. Alexander Valencia et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Rate of de novo mutations and the importance of father’s age to disease risk

(2012) Augustine Kong et al.   NATURE

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

(2012) Jean-Baptiste Rivière et al.   NATURE GENETICS

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

(2012) Erin L Heinzen et al.   NATURE GENETICS

Next-generation sequencing data interpretation: enhancing reproducibility and accessibility

(2012) Anton Nekrutenko et al.   NATURE REVIEWS GENETICS

Whole-genome and whole-exome sequencing in neurological diseases

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

Emerging roles of non-coding RNAs in brain evolution, development, plasticity and disease

(2012) Irfan A. Qureshi et al.   NATURE REVIEWS NEUROSCIENCE

Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample

(2012) Michael E. Talkowski et al.   NEW ENGLAND JOURNAL OF MEDICINE

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

(2012) Isabelle Audo et al.   Orphanet Journal of Rare Diseases

Molecular Diagnosis of Usher Syndrome: Application of Two Different Next Generation Sequencing-Based Procedures

(2012) Danilo Licastro et al.   PLoS One

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

Exome Sequencing Can Improve Diagnosis and Alter Patient Management

(2012) T. J. Dixon-Salazar et al.   Science Translational Medicine

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

(2012) S. E. Calvo et al.   Science Translational Medicine

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

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

Next Generation Diagnostics in Inherited Arrhythmia Syndromes

(2012) James S. Ware et al.   Journal of Cardiovascular Translational Research

Recessive Mutations in SPTBN2 Implicate β-III Spectrin in Both Cognitive and Motor Development

(2012) Stefano Lise et al.   PLoS Genetics

Mutations in EZH2 Cause Weaver Syndrome

(2011) William T. Gibson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

What can exome sequencing do for you?

(2011) J. Majewski et al.   JOURNAL OF MEDICAL GENETICS

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study

(2011) Polona Le Quesne Stabej et al.   JOURNAL OF MEDICAL GENETICS

Exome sequencing supports a de novo mutational paradigm for schizophrenia

(2011) Bin Xu et al.   NATURE 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

Whole-Genome Sequencing for Optimized Patient Management

(2011) M. N. Bainbridge et al.   Science Translational Medicine

Comparison of solution-based exome capture methods for next generation sequencing

(2011) Anna-Maija Sulonen et al.   GENOME BIOLOGY

Comprehensive comparison of three commercial human whole-exome capture platforms

(2011) Asan et al.   GENOME BIOLOGY

A window into third-generation sequencing

(2010) E. E. Schadt et al.   HUMAN MOLECULAR GENETICS

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Automated inference of molecular mechanisms of disease from amino acid substitutions

(2009) B. Li et al.   BIOINFORMATICS

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

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

(2009) Prateek Kumar et al.   Nature Protocols

Sequencing technologies — the next generation

(2009) Michael L. Metzker   NATURE REVIEWS GENETICS

The potential and challenges of nanopore sequencing

(2008) Daniel Branton et al.   NATURE BIOTECHNOLOGY