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

27 August 2017

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

1 reference

27 August 2017

whole genome sequencing

1 reference

1

Jose Bras

1 reference

27 August 2017

2

Rita Guerreiro

1 reference

27 August 2017

3

John Hardy

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PubMed ID

22714018

27 August 2017

language of work or name

English

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publication date

20 June 2012

1 reference

Nature Reviews Neuroscience

27 August 2017

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27 August 2017

13

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27 August 2017

453-464

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27 August 2017

7

1 reference

https://scigraph.springernature.com/pub.10.1038/nrn3271

27 August 2017

0 references

cites work

The real problem in association studies.

1 reference

Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease

21 January 2018

1 reference

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

21 January 2018

1 reference

Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy

21 January 2018

1 reference

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

21 January 2018

1 reference

Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

Exome sequencing: a transformative technology

21 January 2018

1 reference

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

21 January 2018

1 reference

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

Exome sequencing reveals VCP mutations as a cause of familial ALS

21 January 2018

1 reference

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

21 January 2018

1 reference

VPS35 mutations in Parkinson disease

21 January 2018

1 reference

Exome sequencing in Brown-Vialetto-van Laere syndrome

21 January 2018

1 reference

On the allelic spectrum of human disease

21 January 2018

1 reference

Genome-wide association studies: theoretical and practical concerns

21 January 2018

1 reference

Genomewide association studies and human disease

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Genotype imputation for genome-wide association studies

21 January 2018

1 reference

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

21 January 2018

1 reference

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

21 January 2018

1 reference

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

21 January 2018

1 reference

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

21 January 2018

1 reference

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

21 January 2018

1 reference

Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

alpha-Synuclein locus triplication causes Parkinson's disease

21 January 2018

1 reference

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Mapping the genetic architecture of gene expression in human liver

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Methods of DNA methylation analysis

21 January 2018

1 reference

Understanding the transcriptome through RNA structure

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Environmental epigenomics and disease susceptibility

21 January 2018

1 reference

Parkinson's disease risk from ambient exposure to pesticides

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

1 reference

Genomewide association studies of stroke

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

1 reference

A survey of genetic human cortical gene expression

21 January 2018

1 reference

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

21 January 2018

1 reference

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

31 March 2020

1 reference

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

1 reference

PubMed ID

22714018

Dimensions Publication ID

27 August 2017

0 references

1 reference

PubMed ID

22714018