Identification of rare variants in Alzheimer's disease (Q34414016)

2 August 2017

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title

Identification of rare variants in Alzheimer's disease (English)

1 reference

2 August 2017

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Jenny Lord

1

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Carlos Cruchaga

object named as

Carlos Cruchaga

series ordinal

3

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author name string

Alexander J Lu

series ordinal

2

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2 August 2017

publication date

28 October 2014

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2 August 2017

published in

Frontiers in Genetics

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2 August 2017

volume

5

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2 August 2017

page(s)

369

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Two rare AKAP9 variants are associated with Alzheimer's disease in African Americans

2 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

The epigenetic landscape of Alzheimer's disease.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

Combining family- and population-based imputation data for association analysis of rare and common variants in large pedigrees

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

Methylomic profiling implicates cortical deregulation of ANK1 in Alzheimer's disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

Alzheimer's disease: early alterations in brain DNA methylation at ANK1, BIN1, RHBDF2 and other loci

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

Challenges of linkage analysis in the era of whole-genome sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

Using population isolates in genetic association studies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

Rare-variant association analysis: study designs and statistical tests

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

Coding variants in TREM2 increase risk for Alzheimer's disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

ApoE variant p.V236E is associated with markedly reduced risk of Alzheimer's disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

Investigation of an amyloid precursor protein protective mutation (A673T) in a North American case-control sample of late-onset Alzheimer's disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

The role and challenges of exome sequencing in studies of human diseases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

Negligible impact of rare autoimmune-locus coding-region variants on missing heritability

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

TREM2 is associated with the risk of Alzheimer's disease in Spanish population

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

TREM2 Variants in Alzheimer's Disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

Variant of TREM2 Associated with the Risk of Alzheimer's Disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

Exome sequencing and complex disease: practical aspects of rare variant association studies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

Optimal tests for rare variant effects in sequencing association studies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

Rare variant density across the genome and across populations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

Rare and common variants: twenty arguments

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

Both common variations and rare non-synonymous substitutions and small insertion/deletions in CLU are associated with increased Alzheimer risk

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

Using extreme phenotype sampling to identify the rare causal variants of quantitative traits in association studies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

A map of human genome variation from population-scale sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

Replication of CLU, CR1, and PICALM associations with alzheimer disease.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

Uncovering the roles of rare variants in common disease through whole-genome sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

Genome-wide analysis of genetic loci associated with Alzheimer disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

Evidence against a role for rare ADAM10 mutations in sporadic Alzheimer disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

Genetics of Alzheimer disease in the pre- and post-GWAS era

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

Genetic variability in CLU and its association with Alzheimer's disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

Finding the missing heritability of complex diseases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

An evaluation of statistical approaches to rare variant analysis in genetic association studies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

Targeted capture and massively parallel sequencing of 12 human exomes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

Potential late-onset Alzheimer's disease-associated mutations in the ADAM10 gene attenuate {alpha}-secretase activity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

Forecasting the global burden of Alzheimer’s disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

Overrepresentation of rare variants in a specific ethnic group may confuse interpretation of association analyses

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

Role of Genes and Environments for Explaining Alzheimer Disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

Loss of apolipoprotein E receptor LR11 in Alzheimer disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

Linkage studies in familial Alzheimer disease: evidence for chromosome 19 linkage

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4211559

Exome array study did not identify novel variants in Alzheimer's disease.

6 July 2018

1 reference

https://api.crossref.org/works/10.3389/FGENE.2014.00369

Investigating the role of rare heterozygous TREM2 variants in Alzheimer's disease and frontotemporal dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.3389/FGENE.2014.00369

Implication of common and disease specific variants in CLU, CR1, and PICALM.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389/FGENE.2014.00369

Computational neuroanatomy of speech production

21 January 2018

1 reference

https://api.crossref.org/works/10.3389/FGENE.2014.00369

Investigation of TREM2, PLD3, and UNC5C variants in patients with Alzheimer's disease from mainland China.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389/FGENE.2014.00369

Amyloid precursor protein (APP) A673T mutation in the elderly Finnish population

21 January 2018

1 reference

https://api.crossref.org/works/10.3389/FGENE.2014.00369

Marbled inflation from population structure in gene-based association studies with rare variants

21 January 2018

1 reference

https://api.crossref.org/works/10.3389/FGENE.2014.00369

Absence of A673T variant in APP gene indicates an alternative protective mechanism contributing to longevity in Chinese individuals.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389/FGENE.2014.00369

Lack of genetic association between TREM2 and late-onset Alzheimer's disease in a Japanese population.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389/FGENE.2014.00369

High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389/FGENE.2014.00369

TREM2 R47H variant as a risk factor for early-onset Alzheimer's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389/FGENE.2014.00369

Absence of A673T amyloid-β precursor protein variant in Alzheimer's disease and other neurological diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389/FGENE.2014.00369

Triggering receptor expressed on myeloid cells 2 variant is rare in late-onset Alzheimer's disease in Han Chinese individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.3389/FGENE.2014.00369

A General Efficient and Flexible Approach for Genome-Wide Association Analyses of Imputed Genotypes in Family-Based Designs

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25389433

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.3389/FGENE.2014.00369

1 reference

2 August 2017

1 reference

2 August 2017

1 reference