(Q38092689)

28 August 2017

title

Next-generation sequencing diagnostics for neurological diseases/disorders: from a clinical perspective (English)

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28 August 2017

3

Eng-King Tan

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28 August 2017

2

Jianjun Liu

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28 August 2017

Jia Nee Foo

1

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28 August 2017

publication date

23 March 2013

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28 August 2017

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28 August 2017

volume

132

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28 August 2017

issue

7

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28 August 2017

page(s)

721-734

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A beginners guide to SNP calling from high-throughput DNA-sequencing data

28 August 2017

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De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

21 January 2018

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Carrier testing for severe childhood recessive diseases by next-generation sequencing

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Accurate whole human genome sequencing using reversible terminator chemistry

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High-resolution, high-throughput HLA genotyping by next-generation sequencing

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Next-generation sequencing in the clinic: are we ready?

21 January 2018

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Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

21 January 2018

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Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

21 January 2018

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Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

21 January 2018

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Disclosing pathogenic genetic variants to research participants: quantifying an emerging ethical responsibility

21 January 2018

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Translation initiator EIF4G1 mutations in familial Parkinson disease

21 January 2018

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Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

21 January 2018

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Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families

21 January 2018

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Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project

21 January 2018

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Rapid detection of the ACMG/ACOG-recommended 23 CFTR disease-causing mutations using ion torrent semiconductor sequencing

21 January 2018

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HLA DNA typing: past, present, and future

21 January 2018

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Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines from a National Heart, Lung, and Blood Institute working group

21 January 2018

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Non-invasive prenatal measurement of the fetal genome

21 January 2018

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The Genetic Information Nondiscrimination Act (GINA): public policy and medical practice in the age of personalized medicine

21 January 2018

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Whole-genome and whole-exome sequencing in neurological diseases.

21 January 2018

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Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth

21 January 2018

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Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

21 January 2018

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

21 January 2018

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Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.

21 January 2018

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Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders

21 January 2018

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

21 January 2018

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De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

21 January 2018

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Characterizing and interpreting genetic variation from personal genome sequencing

21 January 2018

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Exome sequencing reveals VCP mutations as a cause of familial ALS

21 January 2018

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Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy

21 January 2018

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

21 January 2018

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A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease

21 January 2018

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Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

21 January 2018

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CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.

21 January 2018

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Estimating genetic effects and quantifying missing heritability explained by identified rare-variant associations

21 January 2018

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

21 January 2018

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Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-013-1287-2

Target-enrichment strategies for next-generation sequencing

21 January 2018

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The wide spectrum of spinocerebellar ataxias (SCAs)

21 January 2018

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Sequencing technologies - the next generation

21 January 2018

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Sequencing of neuroblastoma identifies chromothripsis and defects in neuritogenesis genes

21 January 2018

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Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family

21 January 2018

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Computational tools for prioritizing candidate genes: boosting disease gene discovery

21 January 2018

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Patterns and rates of exonic de novo mutations in autism spectrum disorders

21 January 2018

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Targeted capture and massively parallel sequencing of 12 human exomes

21 January 2018

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Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy

21 January 2018

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Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update

21 January 2018

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Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-013-1287-2

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

21 January 2018

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Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

21 January 2018

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Linking restless legs syndrome with Parkinson's disease: clinical, imaging and genetic evidence

21 January 2018

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Genetic mapping and exome sequencing identify variants associated with five novel diseases

21 January 2018

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An integrated semiconductor device enabling non-optical genome sequencing

21 January 2018

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Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1287-2

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1287-2

Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1287-2

Genetic testing for neurologic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1287-2

LINGO1 and essential tremor: linking the shakes. Linking LINGO1 to essential tremor

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1287-2

Genetic testing in spinocerebellar ataxias: defining a clinical role

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1287-2

Hunting for genes in essential tremor

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1287-2

Pathogenic mutations in Parkinson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1287-2

Comparing knowledge and attitudes towards genetic testing in Parkinson's disease in an American and Asian population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1287-2

Genetic analysis of SCA 2 and 3 repeat expansions in essential tremor and atypical Parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1287-2

Clinically reported heterozygous mutations in the PINK1 kinase domain exert a gene dosage effect

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1287-2

LINGO1 variant increases risk of familial essential tremor

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1287-2

De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1287-2

De novo mutations in human genetic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1287-2

VPS35 mutations in Parkinson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1287-2

High-throughput, high-fidelity HLA genotyping with deep sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1287-2

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1287-2

Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1287-2

The complete genome of an individual by massively parallel DNA sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1287-2

Insights from genomics into bacterial pathogen populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1287-2

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1287-2

De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1287-2

A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1287-2

Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1287-2

Spinocerebellar ataxia type 3 presenting as an l-DOPA responsive dystonia phenotype in a Chinese family

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1287-2

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1287-2

Neurological diseases remain neglected and ignored

21 January 2018

1 reference

12 December 2020

The clinical diagnosis of autosomal dominant spinocerebellar ataxias

1 reference

12 December 2020

Increased exonic de novo mutation rate in individuals with schizophrenia

1 reference

12 December 2020

Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease

1 reference

12 December 2020

Re-defining neurological syndromes: the genotype meets the phenotype

1 reference

12 December 2020

10.1007/S00439-013-1287-2

Identifiers

DOI

1 reference

Dimensions Publication ID

28 August 2017

1035265535

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