List of works - John S K Kauwe

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

scientific article

TREM2 Variants in Alzheimer's Disease

scientific article published on November 14, 2012

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

scientific article

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

scientific article (publication date: May 2011)

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

scientific article

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

scientific article (publication date: 15 November 2010)

GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease

scientific article

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 28 February 2019

HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin

scientific article

A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease

scientific article

Cerebrospinal fluid APOE levels: an endophenotype for genetic studies for Alzheimer's disease

scientific article

Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study

scientific article

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease.

scientific article published on 19 June 2017

SNPs associated with cerebrospinal fluid phospho-tau levels influence rate of decline in Alzheimer's disease

scientific article

Novel late-onset Alzheimer disease loci variants associate with brain gene expression

scientific article

Association of late-onset Alzheimer's disease with genetic variation in multiple members of the GAPD gene family

scientific article

Variation in MAPT is associated with cerebrospinal fluid tau levels in the presence of amyloid-beta deposition

scholarly article

Association and expression analyses with single-nucleotide polymorphisms in TOMM40 in Alzheimer disease

scientific article

DAPK1 variants are associated with Alzheimer's disease and allele-specific expression

scientific article published on 17 July 2006

Extreme cerebrospinal fluid amyloid beta levels identify family with late-onset Alzheimer's disease presenilin 1 mutation

scientific article published in May 2007

Missense variant in TREML2 protects against Alzheimer's disease

scientific article published on 21 December 2013

Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia

scientific article published on April 2008

Genome-wide association study of CSF levels of 59 alzheimer's disease candidate proteins: significant associations with proteins involved in amyloid processing and inflammation

scientific article

Alzheimer's disease risk variants show association with cerebrospinal fluid amyloid beta

scientific article published on 24 September 2008

Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease

scientific article

Fine mapping of genetic variants in BIN1, CLU, CR1 and PICALM for association with cerebrospinal fluid biomarkers for Alzheimer's disease

scientific article

Transethnic genome-wide scan identifies novel Alzheimer's disease loci

scientific article published on 6 February 2017

Apolipoprotein E levels in cerebrospinal fluid and the effects of ABCA1 polymorphisms

scientific article published on 12 April 2007

Validating predicted biological effects of Alzheimer's disease associated SNPs using CSF biomarker levels

scientific article

Rs5848 variant influences GRN mRNA levels in brain and peripheral mononuclear cells in patients with Alzheimer's disease

scientific article

Phosphorylated tau-Aβ42 ratio as a continuous trait for biomarker discovery for early-stage Alzheimer's disease in multiplex immunoassay panels of cerebrospinal fluid

scientific article

Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers

scientific article published on 28 February 2017

The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease

scientific article

Haplotype-based association analysis of the MAPT locus in late onset Alzheimer's disease

scientific article published on 31 January 2007

Ubiquilin 1 polymorphisms are not associated with late-onset Alzheimer's disease

scientific article

Variants in PPP3R1 and MAPT are associated with more rapid functional decline in Alzheimer's disease: the Cache County Dementia Progression Study

scientific article published on 30 May 2013

Rarity of the Alzheimer disease-protective APP A673T variant in the United States

scientific article

Association studies between risk for late-onset Alzheimer's disease and variants in insulin degrading enzyme

scientific article

A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin

scientific article published on 25 September 2015

Genome-wide, high-content siRNA screening identifies the Alzheimer's genetic risk factor FERMT2 as a major modulator of APP metabolism

scientific article

Association studies between common variants in prolyl isomerase Pin1 and the risk for late-onset Alzheimer's disease

scientific article

Association studies testing for risk for late-onset Alzheimer's disease with common variants in the beta-amyloid precursor protein (APP).

scientific article published in June 2007

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

article

Novel presenilin 1 variant (P117A) causing Alzheimer's disease in the fourth decade of life.

scientific article

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

scholarly article published in Nature Genetics

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 01 September 2019

Genome-wide association study of prolactin levels in blood plasma and cerebrospinal fluid

scientific article

Variants in ACPP are associated with cerebrospinal fluid Prostatic Acid Phosphatase levels

scientific article

Genome-wide association study for variants that modulate relationships between cerebrospinal fluid amyloid-beta 42, tau, and p-tau levels

scientific article published on 28 August 2018

The Ramp Atlas: facilitating tissue and cell-specific ramp sequence analyses through an intuitive web interface

scientific article published on 30 May 2022

List of works by John S K Kauwe

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

TREM2 Variants in Alzheimer's Disease

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

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

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

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

GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin

A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease

Cerebrospinal fluid APOE levels: an endophenotype for genetic studies for Alzheimer's disease

Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease.

SNPs associated with cerebrospinal fluid phospho-tau levels influence rate of decline in Alzheimer's disease

Novel late-onset Alzheimer disease loci variants associate with brain gene expression

Association of late-onset Alzheimer's disease with genetic variation in multiple members of the GAPD gene family

Variation in MAPT is associated with cerebrospinal fluid tau levels in the presence of amyloid-beta deposition

Association and expression analyses with single-nucleotide polymorphisms in TOMM40 in Alzheimer disease

DAPK1 variants are associated with Alzheimer's disease and allele-specific expression

Extreme cerebrospinal fluid amyloid beta levels identify family with late-onset Alzheimer's disease presenilin 1 mutation

Missense variant in TREML2 protects against Alzheimer's disease

Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia

Genome-wide association study of CSF levels of 59 alzheimer's disease candidate proteins: significant associations with proteins involved in amyloid processing and inflammation

Alzheimer's disease risk variants show association with cerebrospinal fluid amyloid beta

Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease

Fine mapping of genetic variants in BIN1, CLU, CR1 and PICALM for association with cerebrospinal fluid biomarkers for Alzheimer's disease

Transethnic genome-wide scan identifies novel Alzheimer's disease loci

Apolipoprotein E levels in cerebrospinal fluid and the effects of ABCA1 polymorphisms

Validating predicted biological effects of Alzheimer's disease associated SNPs using CSF biomarker levels

Rs5848 variant influences GRN mRNA levels in brain and peripheral mononuclear cells in patients with Alzheimer's disease

Phosphorylated tau-Aβ42 ratio as a continuous trait for biomarker discovery for early-stage Alzheimer's disease in multiplex immunoassay panels of cerebrospinal fluid

Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers

The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease

Haplotype-based association analysis of the MAPT locus in late onset Alzheimer's disease

Ubiquilin 1 polymorphisms are not associated with late-onset Alzheimer's disease

Variants in PPP3R1 and MAPT are associated with more rapid functional decline in Alzheimer's disease: the Cache County Dementia Progression Study

Rarity of the Alzheimer disease-protective APP A673T variant in the United States

Association studies between risk for late-onset Alzheimer's disease and variants in insulin degrading enzyme

A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin

Genome-wide, high-content siRNA screening identifies the Alzheimer's genetic risk factor FERMT2 as a major modulator of APP metabolism

Association studies between common variants in prolyl isomerase Pin1 and the risk for late-onset Alzheimer's disease

Association studies testing for risk for late-onset Alzheimer's disease with common variants in the beta-amyloid precursor protein (APP).

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

Novel presenilin 1 variant (P117A) causing Alzheimer's disease in the fourth decade of life.

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

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Genome-wide association study of prolactin levels in blood plasma and cerebrospinal fluid

Variants in ACPP are associated with cerebrospinal fluid Prostatic Acid Phosphatase levels

Genome-wide association study for variants that modulate relationships between cerebrospinal fluid amyloid-beta 42, tau, and p-tau levels

The Ramp Atlas: facilitating tissue and cell-specific ramp sequence analyses through an intuitive web interface