Philippe Amouyel

This study identifies the rs28834970 variant in PTK2B as a risk factor for Alzheimer's disease, showing it impairs PYK2 function, increases Tau phosphorylation, and alters APP processing in human neuronal cultures.

This study shows that BIN1 isoform 1 expression in the presynaptic compartment causes synaptotoxicity, leading to synaptic loss and structural changes in Drosophila and rat models.

The paper analyzes exome data from 22,319 individuals to identify rare CNVs and 22q11.21 dosage as risk factors for Alzheimer's disease.

The paper conducts GWAS on brain volumes, identifies genetic loci, and develops polygenic scores with cross-ancestry predictive ability and causal links to neuropsychiatric disorders.

The paper introduces a method to compress genetic data using autoencoders that leverage linkage disequilibrium structure, achieving high reconstruction accuracy while reducing data size.

This study identifies 67 genetic loci associated with head size, finding strong overlaps with cancer pathways and genes, suggesting shared genetic mechanisms between head growth and cancer risk.

This study shows that PLCG2 downregulation impairs synaptic function and increases Alzheimer's disease-related markers in neurons.

This paper uses genetic data to investigate the causal relationships between vascular traits like white matter hyperintensity, blood pressure, and stroke with dementia and Alzheimer's disease risk.

The paper identifies high-priority missense variants in SORL1 associated with increased Alzheimer's Disease risk and earlier onset, suggesting clinical counseling considerations for carriers.

The paper identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimer's Disease using exome sequencing data from 32,558 individuals.

This study identifies 17 genetic risk loci for spontaneous coronary artery dissection (SCAD), including 12 new ones, and highlights genes related to artery integrity and coagulation.

This study shows BIN1 regulates L-type calcium channels in neurons, affecting calcium homeostasis and electrical activity, and links these changes to Alzheimer's disease pathology.

This study shows that BIN1 isoform1 causes early endosome defects and neurodegeneration in Drosophila and human neurons, linking it to Alzheimer's disease pathology.

The paper performs a genome-wide association meta-analysis of mitral valve prolapse, identifying new risk loci and genes involved in cardiac development and aging.

The paper identifies FERMT2 as a key modulator of axon guidance and synaptic plasticity in an APP-dependent manner, linking its genetic risk variant to Alzheimer's disease through miRNA regulation.

This study analyzes SNP-chip data from 2,184 French individuals to identify genetic clusters, detect gene flow barriers, and estimate population size changes, revealing historical demographic patterns.

This paper reports six novel genetic variants associated with Alzheimer's disease risk and demonstrates the utility of polygenic risk scores for risk stratification and age at onset prediction.

The paper develops a microfluidic co-culture model to study Aβ1-42-induced synaptotoxicity and shows Pyk2 overexpression in postsynaptic neurons protects against it.

The paper uses a novel gene-based analysis approach to identify three novel genes associated with Alzheimer’s disease using genome-wide association data.

This study identifies genetic loci specific to periventricular and deep white matter hyperintensities, revealing distinct genetic architectures and potential biological mechanisms.

This study shows BIN1 overexpression rescues long-term memory deficits in Tau-overexpressing mice and identifies Thr348 phosphorylation as a key regulator of BIN1-Tau interaction.

This study identifies 15 common and 9 low-frequency protein-coding variants associated with body fat distribution, implicating novel genes related to lipid homeostasis and type 2 diabetes.

The paper analyzes rare coding variants in smoking and drinking behavior using exome chip data, finding that they contribute to phenotypic variation but require larger samples for individual variant associations.

This study identifies common genetic variants associated with pulmonary arterial hypertension risk and survival, focusing on HLA-DPA1/DPB1 and a SOX17 enhancer locus.

Genetic correlations across 25 brain disorders (215,683 cases) reveal broad psychiatric common-variant sharing, largely distinct neurological disorders, and migraine as the only significant cross-category link.

This study identifies 99 genetic loci associated with general cognitive function using data from 280,360 individuals, finding genes linked to brain structure and neurodegenerative disorders.

This study identifies a haplotype lowering PU.1 expression in myeloid cells that delays Alzheimer’s disease onset by affecting gene expression and function.