List of works - Gerard D Schellenberg

Functional impact of global rare copy number variation in autism spectrum disorders

scientific article published on 15 July 2010

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

scientific article

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

scientific article

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

scientific article

A framework for the interpretation of de novo mutation in human disease

scientific article (publication date: 3 August 2014)

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

scientific article

A genome-wide scan for common alleles affecting risk for autism

scientific journal article

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

scientific article

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

scientific article

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

scientific article

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

scientific article

Individual common variants exert weak effects on the risk for autism spectrum disorders

scientific journal article

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

scientific article

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders

scientific article published on January 2013

Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans

scientific article

Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants

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

Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias

scientific article

Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative

scientific article published in October 2007

Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis

scientific article

Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability

scientific article

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

scientific article published on 14 October 2011

Common polygenic variation enhances risk prediction for Alzheimer's disease

scientific article published on 21 October 2015

Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases

scientific article

Genetic assessment of age-associated Alzheimer disease risk: Development and validation of a polygenic hazard score

scientific article

SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians

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

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

scientific article

Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls

scientific article

A rare mutation in UNC5C predisposes to late-onset Alzheimer's disease and increases neuronal cell death

scientific article

Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy

scientific article published on 16 June 2015

Comprehensive search for Alzheimer disease susceptibility loci in the APOE region

scientific article published on October 2012

Missense variant in TREML2 protects against Alzheimer's disease

scientific article published on 21 December 2013

Polygenic Overlap Between C-Reactive Protein, Plasma Lipids, and Alzheimer Disease

scientific article

Association of MAPT haplotypes with Alzheimer's disease risk and MAPT brain gene expression levels

scientific article

Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration

scientific article

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

scientific article

Assessment of the genetic variance of late-onset Alzheimer's disease

scientific article published on 03 March 2016

ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology

scientific article

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

scientific article published on 6 February 2017

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

article

Cycad exposure and risk of dementia, MCI, and PDC in the Chamorro population of Guam.

scientific article

Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci

scientific article published on 30 January 2013

Sex-Specific Association of Apolipoprotein E With Cerebrospinal Fluid Levels of Tau

scientific article published on 01 August 2018

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

scientific article published on 28 February 2017

PLXNA4 is associated with Alzheimer disease and modulates tau phosphorylation

scientific article published on 29 July 2014

Two novel loci, COBL and SLC10A2, for Alzheimer's disease in African Americans

scientific article published on 19 October 2016

Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease

scientific article

ABCA7 frameshift deletion associated with Alzheimer disease in African Americans

scientific article

List of works by Gerard D Schellenberg

Functional impact of global rare copy number variation in autism spectrum disorders

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

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

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

A framework for the interpretation of de novo mutation in human disease

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

A genome-wide scan for common alleles affecting risk for autism

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

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

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

Individual common variants exert weak effects on the risk for autism spectrum disorders

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

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders

Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans

Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants

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

Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias

Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative

Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis

Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

Common polygenic variation enhances risk prediction for Alzheimer's disease

Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases

Genetic assessment of age-associated Alzheimer disease risk: Development and validation of a polygenic hazard score

SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians

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.

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

Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls

A rare mutation in UNC5C predisposes to late-onset Alzheimer's disease and increases neuronal cell death

Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy

Comprehensive search for Alzheimer disease susceptibility loci in the APOE region

Missense variant in TREML2 protects against Alzheimer's disease

Polygenic Overlap Between C-Reactive Protein, Plasma Lipids, and Alzheimer Disease

Association of MAPT haplotypes with Alzheimer's disease risk and MAPT brain gene expression levels

Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration

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

Assessment of the genetic variance of late-onset Alzheimer's disease

ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology

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

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

Cycad exposure and risk of dementia, MCI, and PDC in the Chamorro population of Guam.

Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci

Sex-Specific Association of Apolipoprotein E With Cerebrospinal Fluid Levels of Tau

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

PLXNA4 is associated with Alzheimer disease and modulates tau phosphorylation

Two novel loci, COBL and SLC10A2, for Alzheimer's disease in African Americans

Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease

ABCA7 frameshift deletion associated with Alzheimer disease in African Americans