Rare coding mutations identified by sequencing of Alzheimer disease genome-wide association studies loci

Coding mutations inSORL1and Alzheimer disease

(2015) Badri N. Vardarajan et al.   ANNALS OF NEUROLOGY

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

(2015) Stacy Steinberg et al.   NATURE GENETICS

A new class of protein cancer biomarker candidates: Differentially expressed splice variants of ERBB2 (HER2/neu) and ERBB1 (EGFR) in breast cancer cell lines

(2014) Gilbert S. Omenn et al.   Journal of Proteomics

Genetic variation in BIN1 gene and Alzheimer's disease risk in Han Chinese individuals

(2014) Meng-Shan Tan et al.   NEUROBIOLOGY OF AGING

Disease-related mutations among Caribbean Hispanics with familial dementia

(2014) Joseph H. Lee et al.   Molecular Genetics & Genomic Medicine

Variants in the ATP-Binding Cassette Transporter (ABCA7), Apolipoprotein E ϵ4, and the Risk of Late-Onset Alzheimer Disease in African Americans

(2013) Christiane Reitz et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Deletion of Abca7 Increases Cerebral Amyloid-  Accumulation in the J20 Mouse Model of Alzheimer's Disease

(2013) W. S. Kim et al.   JOURNAL OF NEUROSCIENCE

Increased expression of BIN1 mediates Alzheimer genetic risk by modulating tau pathology

(2013) J Chapuis et al.   MOLECULAR PSYCHIATRY

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

(2013) Carlos Cruchaga et al.   NATURE

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

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

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

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

(2012) Karolien Bettens et al.   Molecular Neurodegeneration

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

(2012) C Pottier et al.   MOLECULAR PSYCHIATRY

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

Expression of Novel Alzheimer’s Disease Risk Genes in Control and Alzheimer’s Disease Brains

(2012) Celeste M. Karch et al.   PLoS One

Roles of ATP-Binding Cassette Transporter A7 in Cholesterol Homeostasis and Host Defense System

(2011) Nobukiyo Tanaka et al.   Journal of Atherosclerosis and Thrombosis

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

(2011) Adam C Naj et al.   NATURE GENETICS

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

(2011) Paul Hollingworth et al.   NATURE GENETICS

The extracellular chaperone clusterin sequesters oligomeric forms of the amyloid-β1−40 peptide

(2011) Priyanka Narayan et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Genome-Wide Association of Familial Late-Onset Alzheimer's Disease Replicates BIN1 and CLU and Nominates CUGBP2 in Interaction with APOE

(2011) Ellen M. Wijsman et al.   PLoS Genetics

Testing for an Unusual Distribution of Rare Variants

(2011) Benjamin M. Neale et al.   PLoS Genetics

Meta-analysis Confirms CR1, CLU, and PICALM as Alzheimer Disease Risk Loci and Reveals Interactions With APOE Genotypes

(2010) Gyungah Jun   ARCHIVES OF NEUROLOGY

Identification of Novel Loci for Alzheimer Disease and Replication of CLU, PICALM, and BIN1 in Caribbean Hispanic Individuals

(2010) Joseph H. Lee et al.   ARCHIVES OF NEUROLOGY

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

(2010) A. McKenna et al.   GENOME RESEARCH

Genome-wide Analysis of Genetic Loci Associated With Alzheimer Disease

(2010) Sudha Seshadri   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

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

(2009) Minji Kim et al.   HUMAN MOLECULAR GENETICS

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

(2009) Jean-Charles Lambert et al.   NATURE GENETICS

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

(2009) Denise Harold et al.   NATURE GENETICS

ATP-binding cassette transporter A7 regulates processing of amyloid precursor proteinin vitro

(2008) Sharon L. Chan et al.   JOURNAL OF NEUROCHEMISTRY