Najaf Amin

APOE stratified genome-wide association studies provide novel insights into the genetic etiology of Alzheimers's disease

This study performs APOE-stratified GWAS to uncover genetic mechanisms underlying Alzheimer's disease risk and response to therapies.

Exome analysis of 22,319 individuals links extremely rare CNVs and 22q11.21 dosage to Alzheimer's risk

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

Domain mapping of disease mutations supports genetic testing of specific SORL1 variants in Alzheimer's Disease

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 impact of Short Tandem Repeats on grey matter brain imaging derived phenotypes in UK Biobank

This study identifies 262 STRs significantly associated with MRI-derived grey matter volumes in UK Biobank participants, with 12 associations replicated and no nearby SNPs in linkage disequilibrium.

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimers Disease

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.

Genetic Association Study of Childhood Aggression across raters, instruments and age

This study conducts a genome-wide association meta-analysis of childhood aggression across multiple raters, instruments, and ages, identifying genetic correlations with various traits but no genome-wide significant SNPs.

Plasma amyloid β levels are driven by genetic variants near APOE, BACE1, APP, PSEN2: A genome-wide association study in over 12,000 non-demented participants

Multi-ancestry genome-wide gene-sleep interactions identify novel loci for blood pressure

The paper identifies novel genetic loci associated with blood pressure that interact with sleep duration across multiple ancestries.

Genetic analysis of mitochondrial DNA copy number and associated traits identifies loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation, and reveals a causal association of mitochondrial function with mortality

This study identifies 100 loci associated with mitochondrial DNA copy number and finds causal links between mitochondrial function and mortality.

Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

The paper identifies genetic variants and transcripts associated with glycemic traits by analyzing exome-array data from 144,600 individuals, highlighting tissue-specific roles in glucose regulation.

Phenome-wide investigation of health outcomes associated with genetic predisposition to loneliness

This study identifies 12 genetic loci associated with loneliness and finds genetic correlations with 34 health outcomes, including cardiovascular and psychiatric disorders.

Common genetic variation indicates separate etiologies for periventricular and deep white matter hyperintensities

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

Genetic Determinants of Cortical Structure (Thickness, Surface Area and Volumes) among Disease Free Adults in the CHARGE Consortium

The paper identifies 161 genome-wide significant genetic associations for cortical structure traits across 34 brain regions, highlighting key biological pathways and gene functions.

Novel DNA methylation sites of glucose and insulin homeostasis: an integrative cross-omics analysis

This study identifies nine novel DNA methylation sites associated with fasting glucose and insulin levels by integrating cross-omics data from multiple cohorts.

Effect of inbreeding on type 2 diabetes-related metabolites in a Dutch genetic isolate

This study examines how inbreeding affects type 2 diabetes-related metabolites in a Dutch genetic isolate, finding that inbreeding influences 32.9% of T2DM-related metabolites independently of BMI.

Recessive genetic effects on type 2 diabetes-related metabolites in a consanguineous population

The paper identifies recessive genetic variants associated with type 2 diabetes-related metabolites in a consanguineous population.

Integrated Clinical and Omics Approach to Rare Diseases: Novel Genes and Oligogenic Inheritance in Holoprosencephaly

This study identifies novel HPE genes and oligogenic inheritance patterns in holoprosencephaly by integrating clinical data with exome sequencing and gene prioritization.

Genetic studies of accelerometer-based sleep measures in 85,670 individuals yield new insights into human sleep behaviour

This study identifies 47 genetic associations with sleep traits using accelerometer data from 85,670 individuals, including novel variants for sleep quality and duration.

Quality Control and Integration of Genotypes from Two Calling Pipelines for Whole Genome Sequence Data in the Alzheimer’s Disease Sequencing Project

The paper describes the quality control and integration of genotype calls from two pipelines for whole genome sequencing data in the Alzheimer’s Disease Sequencing Project, resulting in a high-quality consensus dataset.

Ninety-nine independent genetic loci influencing general cognitive function include genes associated with brain health and structure (N = 280,360)

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.

Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

This study identifies 16 causal coding variants in type 2 diabetes using fine-mapping and shows that one third of signals are false leads.

Genetic Architecture of Subcortical Brain Structures in Over 40,000 Individuals Worldwide

The paper identifies 25 genetic loci associated with subcortical brain structure volumes in over 40,000 individuals, revealing novel biology and potential drug targets.

Novel blood pressure locus and gene discovery using GWAS and expression datasets from blood and the kidney

This study identifies 6 new blood pressure loci and 48 genes involved in BP regulation using GWAS and gene expression data from blood and kidney tissues.