APOE*E2 allele delays age of onset in PSEN1 E280A Alzheimer’s disease

Candidate gene discovery in autoimmunity by using extreme phenotypes, next generation sequencing and whole exome capture

(2015) Angad S. Johar et al.   AUTOIMMUNITY REVIEWS

A ubiquitin-binding CUE domain in presenilin-1 enables interaction with K63-linked polyubiquitin chains

(2015) Stephen P. Duggan et al.   FEBS LETTERS

Targeting G protein coupled receptor-related pathways as emerging molecular therapies

(2015) Abdelaziz Ghanemi   SAUDI PHARMACEUTICAL JOURNAL

Clinical Outcomes and Genome-Wide Association for a Brain Methylation Site in an Antidepressant Pharmacogenetics Study in Mexican Americans

(2014) Ma-Li Wong et al.   AMERICAN JOURNAL OF PSYCHIATRY

An 1H-MRS framework predicts the onset of Alzheimer's disease symptoms in PSEN1 mutation carriers

(2013) Ana C. Londono et al.   Alzheimers & Dementia

Human Fc Receptor-Like 5 Binds Intact IgG via Mechanisms Distinct from Those of Fc Receptors

(2013) A. Franco et al.   JOURNAL OF IMMUNOLOGY

The forgotten APOE allele: A review of the evidence and suggested mechanisms for the protective effect of APOE ɛ2

(2013) Sana Suri et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Altered inactivation of commensal LPS due to acyloxyacyl hydrolase deficiency in colonic dendritic cells impairs mucosal Th17 immunity

(2013) B. M. Janelsins et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IFI16 DNA Sensor Is Required for Death of Lymphoid CD4 T Cells Abortively Infected with HIV

(2013) K. M. Monroe et al.   SCIENCE

Detecting Rare Variant Effects Using Extreme Phenotype Sampling in Sequencing Association Studies

(2012) Ian J. Barnett et al.   GENETIC EPIDEMIOLOGY

Exploratory data from complete genomes of familial alzheimer disease age-at-onset outliers

(2012) Matthew A. Lalli et al.   HUMAN MUTATION

Florbetapir PET analysis of amyloid-β deposition in the presenilin 1 E280A autosomal dominant Alzheimer's disease kindred: a cross-sectional study

(2012) Adam S Fleisher et al.   LANCET NEUROLOGY

Brain imaging and fluid biomarker analysis in young adults at genetic risk for autosomal dominant Alzheimer's disease in the presenilin 1 E280A kindred: a case-control study

(2012) Eric M Reiman et al.   LANCET NEUROLOGY

Prediction of susceptibility to major depression by a model of interactions of multiple functional genetic variants and environmental factors

(2012) M-L Wong et al.   MOLECULAR PSYCHIATRY

Pooling/bootstrap-based GWAS (pbGWAS) identifies new loci modifying the age of onset in PSEN1 p.Glu280Ala Alzheimer's disease

(2012) J I Vélez et al.   MOLECULAR PSYCHIATRY

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

(2012) Thorlakur Jonsson et al.   NATURE

NLRP3 is activated in Alzheimer’s disease and contributes to pathology in APP/PS1 mice

(2012) Michael T. Heneka et al.   NATURE

An efficient multi-locus mixed-model approach for genome-wide association studies in structured populations

(2012) Vincent Segura et al.   NATURE GENETICS

The mystery of missing heritability: Genetic interactions create phantom heritability

(2012) O. Zuk et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Intracellular DNA Sensor IFI16 Gene Acts as Restriction Factor for Human Cytomegalovirus Replication

(2012) Grazia Rosaria Gariano et al.   PLoS Pathogens

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

(2011) Dalin Li et al.   GENETIC EPIDEMIOLOGY

Systemic Inflammation Modulates Fc Receptor Expression on Microglia during Chronic Neurodegeneration

(2011) K. Lunnon et al.   JOURNAL OF IMMUNOLOGY

Pre-dementia clinical stages in presenilin 1 E280A familial early-onset Alzheimer's disease: a retrospective cohort study

(2011) Natalia Acosta-Baena et al.   LANCET NEUROLOGY

The role of G protein-coupled receptors in the pathology of Alzheimer's disease

(2011) Amantha Thathiah et al.   NATURE REVIEWS NEUROSCIENCE

Replication Strategies for Rare Variant Complex Trait Association Studies via Next-Generation Sequencing

(2010) Dajiang J. Liu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication

(2010) M Arcos-Burgos et al.   MOLECULAR PSYCHIATRY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Statistical analysis strategies for association studies involving rare variants

(2010) Vikas Bansal et al.   NATURE REVIEWS GENETICS

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

(2010) Elizabeth T. Cirulli et al.   NATURE REVIEWS GENETICS

A Covering Method for Detecting Genetic Associations between Rare Variants and Common Phenotypes

(2010) Gaurav Bhatia et al.   PLoS Computational Biology

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

(2010) Eugene V. Davydov et al.   PLoS Computational Biology

A Novel Adaptive Method for the Analysis of Next-Generation Sequencing Data to Detect Complex Trait Associations with Rare Variants Due to Gene Main Effects and Interactions

(2010) Dajiang J. Liu et al.   PLoS Genetics

The structure and function of G-protein-coupled receptors

(2009) Daniel M. Rosenbaum et al.   NATURE

Transcription factor Sp1 dysregulation in Alzheimer's disease

(2008) Bruce A. Citron et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Common and rare variants in multifactorial susceptibility to common diseases

(2008) Walter Bodmer et al.   NATURE GENETICS