Whole‐genome sequencing reveals new Alzheimer's disease–associated rare variants in loci related to synaptic function and neuronal development

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Genomic Mechanisms in Alzheimer’s Disease

(2020) Lars Bertram et al.   BRAIN PATHOLOGY

MicroRNA-7: expression and function in brain physiological and pathological processes

(2020) Juanjuan Zhao et al.   Cell and Bioscience

Hypothesis: Tau pathology is an initiating factor in sporadic Alzheimer's disease

(2020) Amy F. T. Arnsten et al.   Alzheimers & Dementia

Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer’s disease risk

(2019) Iris E. Jansen et al.   NATURE GENETICS

Alzheimer disease risk genes: 29 and counting

(2019) Lars Bertram et al.   Nature Reviews Neurology

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

(2019) Brian W. Kunkle et al.   NATURE GENETICS

Geneshot: search engine for ranking genes from arbitrary text queries

(2019) Alexander Lachmann et al.   NUCLEIC ACIDS RESEARCH

Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein

(2019) Roberta Russo et al.   Frontiers in Physiology

KIF2A characterization after spinal cord injury

(2019) Oscar Seira et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

MiR-7 impairs insulin signaling and regulates Aβ levels through posttranscriptional regulation of the IRS-2, INSR, IDE and LXR pathway

(2019) Mario Fernández-de Frutos et al.   MOLECULAR AND CELLULAR BIOLOGY

Lack of synaptic protein, calsyntenin‐2, impairs morphology of synaptic complexes in mice

(2019) Svetlana V. Ranneva et al.   SYNAPSE

Targeting the Synapse in Alzheimer’s Disease

(2019) Johanna Jackson et al.   Frontiers in Neuroscience

A Rare Variant Nonparametric Linkage Method for Nuclear and Extended Pedigrees with Application to Late-Onset Alzheimer Disease via WGS Data

(2019) Linhai Zhao et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Conditional switching of KIF2A mutation provides new insights into cortical malformation pathogeny

(2019) Johan G Gilet et al.   HUMAN MOLECULAR GENETICS

Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

(2018) Ashleigh E. Schaffer et al.   NATURE GENETICS

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals

(2018) James J. Lee et al.   NATURE GENETICS

OUP accepted manuscript

(2018)   NUCLEIC ACIDS RESEARCH

The Pathway Coexpression Network: Revealing pathway relationships

(2018) Yered Pita-Juárez et al.   PLoS Computational Biology

GWAS on family history of Alzheimer’s disease

(2018) Riccardo E. Marioni et al.   Translational Psychiatry

Serine/threonine kinase 31 promotes PDCD5-mediated apoptosis in p53-dependent human colon cancer cells

(2018) Sungmin Kwak et al.   JOURNAL OF CELLULAR PHYSIOLOGY

The antimicrobial protection hypothesis of Alzheimer's disease

(2018) Robert D. Moir et al.   Alzheimers & Dementia

Cytoscape StringApp: Network Analysis and Visualization of Proteomics Data

(2018) Nadezhda T. Doncheva et al.   JOURNAL OF PROTEOME RESEARCH

LNCipedia 5: towards a reference set of human long non-coding RNAs

(2018) Pieter-Jan Volders et al.   NUCLEIC ACIDS RESEARCH

STRING v11: protein–protein association networks with increased coverage, supporting functional discovery in genome-wide experimental datasets

(2018) Damian Szklarczyk et al.   NUCLEIC ACIDS RESEARCH

GENCODE reference annotation for the human and mouse genomes

(2018) Adam Frankish et al.   NUCLEIC ACIDS RESEARCH

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

(2018) Annalisa Buniello et al.   NUCLEIC ACIDS RESEARCH

On the association analysis of genome-sequencing data: A spatial clustering approach for partitioning the entire genome into nonoverlapping windows

(2017) Heide Loehlein Fier et al.   GENETIC EPIDEMIOLOGY

Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development

(2017) Loïc Broix et al.   HUMAN MOLECULAR GENETICS

Overexpression of Kinesin Superfamily Motor Proteins in Alzheimer’s Disease

(2017) Kelly Hares et al.   JOURNAL OF ALZHEIMERS DISEASE

An atlas of human long non-coding RNAs with accurate 5′ ends

(2017) Chung-Chau Hon et al.   NATURE

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

(2017) Rebecca Sims et al.   NATURE GENETICS

OUP accepted manuscript

(2017)   NUCLEIC ACIDS RESEARCH

The Encyclopedia of DNA elements (ENCODE): data portal update

(2017) Carrie A Davis et al.   NUCLEIC ACIDS RESEARCH

ER-associated degradation regulates Alzheimer’s amyloid pathology and memory function by modulating γ-secretase activity

(2017) Bing Zhu et al.   Nature Communications

Integration of bioinformatics and imaging informatics for identifying rare PSEN1 variants in Alzheimer’s disease

(2016) Kwangsik Nho et al.   BMC Medical Genomics

The (in)famous GWAS P-value threshold revisited and updated for low-frequency variants

(2016) João Fadista et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Inhibition of Wnt signaling induces amyloidogenic processing of amyloid precursor protein and the production and aggregation of Amyloid-β (Aβ)42peptides

(2016) Cheril Tapia-Rojas et al.   JOURNAL OF NEUROCHEMISTRY

3DSNP: a database for linking human noncoding SNPs to their three-dimensional interacting genes

(2016) Yiming Lu et al.   NUCLEIC ACIDS RESEARCH

Ensembl 2017

(2016) Bronwen L. Aken et al.   NUCLEIC ACIDS RESEARCH

Gain-of-function mutations in protein kinase Cα (PKCα) may promote synaptic defects in Alzheimer’s disease

(2016) Stephanie I. Alfonso et al.   Science Signaling

Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function

(2016) Claudio R. Cortés et al.   Scientific Reports

Gain-of-function mutations in protein kinase Cα (PKCα) may promote synaptic defects in Alzheimer’s disease

(2016) Stephanie I. Alfonso et al.   Science Signaling

Identification of Vulnerable Cell Types in Major Brain Disorders Using Single Cell Transcriptomes and Expression Weighted Cell Type Enrichment

(2016) Nathan G. Skene et al.   Frontiers in Neuroscience

The International Human Epigenome Consortium Data Portal

(2016) David Bujold et al.   Cell Systems

Human whole genome genotype and transcriptome data for Alzheimer’s and other neurodegenerative diseases

(2016) Mariet Allen et al.   Scientific Data

Utilizing the Jaccard index to reveal population stratification in sequencing data: a simulation study and an application to the 1000 Genomes Project

(2015) Dmitry Prokopenko et al.   BIOINFORMATICS

Genome- and exome-wide association study of serum lipoprotein (a) in the Jackson Heart Study

(2015) Jin Li et al.   JOURNAL OF HUMAN GENETICS

Integrative analysis of 111 reference human epigenomes

(2015) Anshul Kundaje et al.   NATURE

Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease

(2015) Stacy Steinberg et al.   NATURE GENETICS

DIANA-LncBase v2: indexing microRNA targets on non-coding transcripts

(2015) Maria D. Paraskevopoulou et al.   NUCLEIC ACIDS RESEARCH

Cell types in the mouse cortex and hippocampus revealed by single-cell RNA-seq

(2015) A. Zeisel et al.   SCIENCE

MAGMA: Generalized Gene-Set Analysis of GWAS Data

(2015) Christiaan A. de Leeuw et al.   PLoS Computational Biology

Wnt/β-Catenin Signaling in Alzheimer’s Disease

(2014) Giancarlo Ferrari et al.   CNS & Neurological Disorders-Drug Targets

Functional annotation of noncoding sequence variants

(2014) Graham R S Ritchie et al.   NATURE METHODS

Sel1L is indispensable for mammalian endoplasmic reticulum-associated degradation, endoplasmic reticulum homeostasis, and survival

(2014) Shengyi Sun et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

VEGAS2: Software for More Flexible Gene-Based Testing

(2014) Aniket Mishra et al.   Twin Research and Human Genetics

voom: precision weights unlock linear model analysis tools for RNA-seq read counts

(2014) Charity W Law et al.   GENOME BIOLOGY

Sequence Kernel Association Tests for the Combined Effect of Rare and Common Variants

(2013) Iuliana Ionita-Laza et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Childhood intelligence is heritable, highly polygenic and associated with FNBP1L

(2013) B Benyamin et al.   MOLECULAR PSYCHIATRY

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

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

(2013) Jean-Charles Lambert et al.   NATURE GENETICS

Rare Variant Analysis for Family-Based Design

(2013) Gourab De et al.   PLoS One

Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies

(2012) Seunggeun Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Qualimap: evaluating next-generation sequencing alignment data

(2012) Fernando García-Alcalde et al.   BIOINFORMATICS

Removing technical variability in RNA-seq data using conditional quantile normalization

(2012) K. D. Hansen et al.   BIOSTATISTICS

The calcium-sensing receptor: A novel Alzheimer's disease crucial target?

(2012) Ubaldo Armato et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

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

(2012) Thorlakur Jonsson et al.   NATURE

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

(2012) Thorlakur Jonsson et al.   NEW ENGLAND JOURNAL OF MEDICINE

TREM2 Variants in Alzheimer's Disease

(2012) Rita Guerreiro et al.   NEW ENGLAND JOURNAL OF MEDICINE

STRING v9.1: protein-protein interaction networks, with increased coverage and integration

(2012) Andrea Franceschini et al.   NUCLEIC ACIDS RESEARCH

Genome-wide association studies establish that human intelligence is highly heritable and polygenic

(2011) G Davies et al.   MOLECULAR PSYCHIATRY

METAL: fast and efficient meta-analysis of genomewide association scans

(2010) C. J. Willer et al.   BIOINFORMATICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

GREAT improves functional interpretation of cis-regulatory regions

(2010) Cory Y McLean et al.   NATURE BIOTECHNOLOGY

Update of the FANTOM web resource: from mammalian transcriptional landscape to its dynamic regulation

(2010) H. Kawaji et al.   NUCLEIC ACIDS RESEARCH

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

A Novel Hybrid Yeast-Human Network Analysis Reveals an Essential Role for FNBP1L in Antibacterial Autophagy

(2009) A. Huett et al.   JOURNAL OF IMMUNOLOGY

KIBRA and CLSTN2 polymorphisms exert interactive effects on human episodic memory

(2009) Claudia Preuschhof et al.   NEUROPSYCHOLOGIA

Analyses of the National Institute on Aging Late-Onset Alzheimer's Disease Family Study

(2008) Joseph H. Lee   ARCHIVES OF NEUROLOGY