The genetic regulation of protein expression in cerebrospinal fluid

Matrix metalloproteinase 10 is linked to the risk of progression to dementia of the Alzheimer’s type

(2022) Pamela V. Martino Adami et al.   BRAIN

An optimal variant to gene distance window derived from an empirical definition of cis and trans protein QTLs

(2022) Eric B. Fauman et al.   BMC BIOINFORMATICS

Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers

(2022) Iris E. Jansen et al.   ACTA NEUROPATHOLOGICA

GPNMB confers risk for Parkinson’s disease through interaction with α-synuclein

(2022) Maria E. Diaz-Ortiz et al.   SCIENCE

Proteomic profiling platforms head to head: Leveraging genetics and clinical traits to compare aptamer- and antibody-based methods

(2022) Daniel H. Katz et al.   Science Advances

Genome-wide enhancer maps link risk variants to disease genes

(2021) Joseph Nasser et al.   NATURE

The Role of GPNMB in Inflammation

(2021) Marina Saade et al.   Frontiers in Immunology

Biomarkers for neurodegenerative diseases

(2021) Oskar Hansson   NATURE MEDICINE

Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders

(2021) Chengran Yang et al.   NATURE NEUROSCIENCE

Large-scale integration of the plasma proteome with genetics and disease

(2021) Egil Ferkingstad et al.   NATURE GENETICS

The A4 study: β ‐amyloid and cognition in 4432 cognitively unimpaired adults

(2020) Philip S. Insel et al.   Annals of Clinical and Translational Neurology

Large eQTL meta-analysis reveals differing patterns between cerebral cortical and cerebellar brain regions

(2020) Solveig K. Sieberts et al.   Scientific Data

In Aptamers They Trust

(2019) Abhishek Joshi et al.   CIRCULATION

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

Genetic mapping of cell type specificity for complex traits

(2019) Kyoko Watanabe et al.   Nature Communications

Siglecs in Brain Function and Neurological Disorders

(2019) Shoib Sarwar Siddiqui et al.   Cells

Genome-wide association analysis of 19,629 individuals identifies variants influencing regional brain volumes and refines their genetic co-architecture with cognitive and mental health traits

(2019) Bingxin Zhao et al.   NATURE GENETICS

Multiplex proteomics identifies novel CSF and plasma biomarkers of early Alzheimer’s disease

(2019) Christopher D. Whelan et al.   Acta Neuropathologica Communications

Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages

(2018) Jaeyoon Chung et al.   Alzheimers & Dementia

Circulating irisin and chemerin levels as predictors of seizure control in children with idiopathic epilepsy

(2018) Marwa Elhady et al.   NEUROLOGICAL SCIENCES

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

(2018) Aude Nicolas et al.   NEURON

The MR-Base platform supports systematic causal inference across the human phenome

(2018) Gibran Hemani et al.   eLife

Genomic atlas of the human plasma proteome

(2018) Benjamin B. Sun et al.   NATURE

ProGeM: a framework for the prioritization of candidate causal genes at molecular quantitative trait loci

(2018) David Stacey et al.   NUCLEIC ACIDS RESEARCH

Genome-wide association study of 23,500 individuals identifies 7 loci associated with brain ventricular volume

(2018) Dina Vojinovic et al.   Nature Communications

Genome-wide association study for variants that modulate relationships between cerebrospinal fluid amyloid-beta 42, tau, and p-tau levels

(2018) Taylor J. Maxwell et al.   Alzheimers Research & Therapy

TissueEnrich: Tissue-specific gene enrichment analysis

(2018) Ashish Jain et al.   BIOINFORMATICS

Alzheimer’s Disease-Associated Cerebrospinal Fluid (CSF) Biomarkers do not Correlate with CSF Volumes or CSF Production Rate

(2017) Mikael Edsbagge et al.   JOURNAL OF ALZHEIMERS DISEASE

Improved Cerebrospinal Fluid-Based Discrimination between Alzheimer’s Disease Patients and Controls after Correction for Ventricular Volumes

(2017) Linda J.C. van Waalwijk van Doorn et al.   JOURNAL OF ALZHEIMERS DISEASE

A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci

(2017) Diana Chang et al.   NATURE GENETICS

Functional mapping and annotation of genetic associations with FUMA

(2017) Kyoko Watanabe et al.   Nature Communications

Earliest accumulation of β-amyloid occurs within the default-mode network and concurrently affects brain connectivity

(2017) Sebastian Palmqvist et al.   Nature Communications

Evolution of Osteocrin as an activity-regulated factor in the primate brain

(2016) Bulent Ataman et al.   NATURE

Increased amyloidogenic APP processing in APOE ɛ4-negative individuals with cerebral β-amyloidosis

(2016) Niklas Mattsson et al.   Nature Communications

Frontotemporal dementia and its subtypes: a genome-wide association study

(2014) Raffaele Ferrari et al.   LANCET NEUROLOGY

Homogenous 96-Plex PEA Immunoassay Exhibiting High Sensitivity, Specificity, and Excellent Scalability

(2014) Erika Assarsson et al.   PLoS One

Bayesian Test for Colocalisation between Pairs of Genetic Association Studies Using Summary Statistics

(2014) Claudia Giambartolomei et al.   PLoS Genetics

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

(2013) K. R. Smith et al.   HUMAN MOLECULAR GENETICS

Accuracy of a Panel of 5 Cerebrospinal Fluid Biomarkers in the Differential Diagnosis of Patients With Dementia and/or Parkinsonian Disorders

(2012) Sara Hall et al.   ARCHIVES OF NEUROLOGY

Patterns of Cis Regulatory Variation in Diverse Human Populations

(2012) Barbara E. Stranger et al.   PLoS Genetics

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

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