Genetic analyses in multiplex families confirms chromosome 5q35 as a risk locus for Alzheimer’s Disease in individuals of African Ancestry

New insights into the genetic etiology of Alzheimer’s disease and related dementias

(2022) Céline Bellenguez et al.   NATURE GENETICS

Admixture mapping identifies novel Alzheimer's disease risk regions in African Americans

(2022) Farid Rajabli et al.   Alzheimers & Dementia

Increased APOE ε4 expression is associated with the difference in Alzheimer's disease risk from diverse ancestral backgrounds

(2021) Anthony J. Griswold et al.   Alzheimers & Dementia

Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer’s disease risk genes

(2021) Jeremy Schwartzentruber et al.   NATURE GENETICS

Increased excitatory to inhibitory synaptic ratio in parietal cortex samples from individuals with Alzheimer’s disease

(2021) Julie C. Lauterborn et al.   Nature Communications

Inhibitory synapse loss and accumulation of amyloid beta in inhibitory presynaptic terminals in Alzheimer's disease

(2021) Hatice Kurucu et al.   EUROPEAN JOURNAL OF NEUROLOGY

The multiplex model of the genetics of Alzheimer’s disease

(2020) Rebecca Sims et al.   NATURE NEUROSCIENCE

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

(2020) Konrad J. Karczewski et al.   NATURE

Robust Hi-C Maps of Enhancer-Promoter Interactions Reveal the Function of Non-coding Genome in Neural Development and Diseases

(2020) Leina Lu et al.   MOLECULAR CELL

Novel Alzheimer Disease Risk Loci and Pathways in African American Individuals Using the African Genome Resources Panel

(2020) Brian W. Kunkle et al.   JAMA Neurology

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

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

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

KIBRA T allele influences memory performance and progression of cognitive decline: a 7-year follow-up study in subjective cognitive decline and mild cognitive impairment

(2019) Salvatore Mazzeo et al.   NEUROLOGICAL SCIENCES

KIBRA is associated with accelerated cognitive decline and hippocampal atrophy in APOE ε4-positive cognitively normal adults with high Aβ-amyloid burden

(2018) Tenielle Porter et al.   Scientific Reports

Whole genome sequencing of Caribbean Hispanic families with late-onset Alzheimer's disease

(2018) Badri N. Vardarajan et al.   Annals of Clinical and Translational Neurology

A universal SNP and small-indel variant caller using deep neural networks

(2018) Ryan Poplin et al.   NATURE BIOTECHNOLOGY

Racial and ethnic estimates of Alzheimer's disease and related dementias in the United States (2015–2060) in adults aged ≥65 years

(2018) Kevin A. Matthews et al.   Alzheimers & Dementia

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

Neuropathological and transcriptomic characteristics of the aged brain

(2017) Jeremy A Miller et al.   eLife

Genome-wide linkage analyses of non-Hispanic white families identify novel loci for familial late-onset Alzheimer's disease

(2016) Brian W. Kunkle et al.   Alzheimers & Dementia

Identification of an elaborate complex mediating postsynaptic inhibition

(2016) A. Uezu et al.   SCIENCE

Linkage analyses in Caribbean Hispanic families identify novel loci associated with familial late-onset Alzheimer's disease

(2015) Sandra Barral et al.   Alzheimers & Dementia

motifbreakR: an R/Bioconductor package for predicting variant effects at transcription factor binding sites: Fig. 1.

(2015) Simon G. Coetzee et al.   BIOINFORMATICS

Integrative analysis of 111 reference human epigenomes

(2015) Anshul Kundaje et al.   NATURE

Predicting effective microRNA target sites in mammalian mRNAs

(2015) Vikram Agarwal et al.   eLife

Second-generation PLINK: rising to the challenge of larger and richer datasets

(2015) Christopher C Chang et al.   GigaScience

Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel

(2014) Olivier Delaneau et al.   Nature Communications

Ablation of the microglial protein DOCK2 reduces amyloid burden in a mouse model of Alzheimer's disease

(2013) Patrick J. Cimino et al.   EXPERIMENTAL AND MOLECULAR PATHOLOGY

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

Association ofKIBRAwith episodic and working memory: A meta-analysis

(2012) Annette Milnik et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

The diagnosis of dementia due to Alzheimer’s disease: Recommendations from the National Institute on Aging-Alzheimer’s Association workgroups on diagnostic guidelines for Alzheimer's disease

(2011) Guy M. McKhann et al.   Alzheimers & Dementia

The diagnosis of mild cognitive impairment due to Alzheimer’s disease: Recommendations from the National Institute on Aging-Alzheimer’s Association workgroups on diagnostic guidelines for Alzheimer's disease

(2011) Marilyn S. Albert et al.   Alzheimers & Dementia

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

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

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

DOCK2 Is a Microglial Specific Regulator of Central Nervous System Innate Immunity Found in Normal and Alzheimer’s Disease Brain

(2009) Patrick J. Cimino et al.   AMERICAN JOURNAL OF PATHOLOGY