Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease (Q38020089)

27 August 2017

title

Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease (English)

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27 August 2017

main subject

whole genome sequencing

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1

Jose Bras

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27 August 2017

2

Rita Guerreiro

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27 August 2017

3

John Hardy

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27 August 2017

language of work or name

English

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publication date

20 June 2012

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Nature Reviews Neuroscience

27 August 2017

published in

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27 August 2017

volume

13

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27 August 2017

issue

7

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27 August 2017

page(s)

453-464

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The real problem in association studies

27 August 2017

cites work

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Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations

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Extended tracts of homozygosity identify novel candidate genes associated with late-onset Alzheimer's disease

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Whole genome analysis in a consanguineous family with early onset Alzheimer's disease

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Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

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Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome

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Exome sequencing: a transformative technology

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

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

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Exome sequencing reveals VCP mutations as a cause of familial ALS

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

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VPS35 mutations in Parkinson disease

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On the allelic spectrum of human disease

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Genome-wide association studies: theoretical and practical concerns

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Genomewide association studies and human disease

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Genome-wide association study reveals genetic risk underlying Parkinson's disease

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

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A two-stage meta-analysis identifies several new loci for Parkinson's disease

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Genome-wide association of familial late-onset Alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE

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Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

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Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

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Prediction and interaction in complex disease genetics: experience in type 1 diabetes

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Genotype imputation for genome-wide association studies

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

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Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease

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A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease

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Alpha-synuclein locus duplication as a cause of familial Parkinson's disease

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alpha-Synuclein locus triplication causes Parkinson's disease

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

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Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids

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Mapping the genetic architecture of gene expression in human liver

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Gene ontology analysis of GWA study data sets provides insights into the biology of bipolar disorder

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PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes

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Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease

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DNA methylation profiling reveals a predominant immune component in breast cancers.

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Distinct DNA methylation changes highly correlated with chronological age in the human brain

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21 January 2018

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Understanding the transcriptome through RNA structure

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Gene-environment interactions in Parkinson's disease and other forms of parkinsonism

21 January 2018

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Epigenetic regulation of gene expression: how the genome integrates intrinsic and environmental signals

21 January 2018

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Environmental epigenomics and disease susceptibility

21 January 2018

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Parkinson’s disease risk from ambient exposure to pesticides

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Chronic Parkinsonism in humans due to a product of meperidine-analog synthesis

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Environmental risk factors and Parkinson's disease: a case-control study in Taiwan

21 January 2018

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Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease

21 January 2018

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Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

21 January 2018

1 reference

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease

21 January 2018

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Genomewide association studies of stroke

21 January 2018

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Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke

21 January 2018

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Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans

21 January 2018

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Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation

21 January 2018

1 reference

DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA

21 January 2018

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A survey of genetic human cortical gene expression

21 January 2018

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Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.

21 January 2018

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1000 Genomes-based imputation identifies novel and refined associations for the Wellcome Trust Case Control Consortium phase 1 Data

31 March 2020

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Epigenetics DNA methylation in the core ataxin-2 gene promoter: novel physiological and pathological implications

31 March 2020

1 reference

Profiling epigenetic alterations in disease

31 March 2020

2 references

https://pubmed.ncbi.nlm.nih.gov/22714018

31 March 2020

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22714018

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Gene-environment interactions in mental disorders.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22714018

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NRN3271

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Dimensions Publication ID

27 August 2017

1053111209

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1 reference