David C. Glahn

Determinants of functional burden pleiotropy and gene dosage responses across human traits

The paper develops FunBurd to analyze gene dosage effects on 43 traits in UK-Biobank, finding pleiotropy and non-monotonic responses linked to genetic constraint and brain-specific mechanisms.

Structural Brain Network Alterations in Relation to Treatment and Illness Severity in Bipolar Disorder

This study analyzes structural brain network changes in bipolar disorder, finding widespread connectivity disruptions linked to illness severity and medication use.

Shared genetic architecture of brain age gap across 30 cohorts worldwide

This study identifies a shared genetic factor underlying brain age gaps across 30 cohorts, finding 19 SNPs and associations with health traits.

Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database

The paper analyzes over 800,000 human genomes to assess penetrance of clinically relevant variants, finding that 95% of pLoF variants in severe diseases have explanations for lack of disease manifestation.

A Scalable Toolkit for Modeling 3D Surface-based Brain Geometry

The paper introduces a scalable toolkit for 3D surface-based brain analysis, demonstrating its utility in mapping subcortical shape variations across 21 international samples.

Profiling brain morphology for autism spectrum disorder with two cross-culture large-scale consortia

This study identifies two ASD subgroups with distinct brain morphology using cross-cultural datasets, highlighting key brain regions associated with subgroup characteristics and autistic traits.

Whole genome sequence association analysis of brain structural volume measures in the NHLBI TOPMed Program highlights novel loci in diverse participants

This study uses whole-genome sequence data from diverse participants to identify novel genetic loci associated with brain structural volumes, highlighting the importance of diverse cohorts in uncovering genetic architecture.

Lifespan reference curves for harmonizing multi-site regional brain white matter metrics from diffusion MRI

The paper creates lifespan reference curves for white matter microstructure using diffusion MRI data from multiple datasets and validates them with ApoE4 risk factor analysis.

Effects of gene dosage on cognitive ability: A function-based association study across brain and non-brain processes

The paper identifies a CNV duplication associated with higher cognitive ability and shows gene-dosage effects differ between deletions and duplications across biological processes.

Sex differences in deep brain shape and asymmetry persist across schizophrenia and healthy individuals: A meta-analysis from the ENIGMA-Schizophrenia Working Group

Copy number variants differ in frequency across genetic ancestry groups

The paper examines CNV frequency differences across genetic ancestry groups and finds lower prevalence of deleterious CNVs in non-European ancestry groups.

Brain-Age Prediction: Systematic Evaluation of Site Effects, and Sample Age Range and Size

The paper evaluates factors affecting brain-age prediction models using structural neuroimaging data from 35,683 individuals, finding optimal model performance with no site harmonization, age-binning, and a sample size of over 1,600.

Using rare genetic mutations to revisit structural brain asymmetry

The paper investigates how rare genetic mutations affect brain asymmetry by analyzing CNVs in a cohort of individuals and linking genetic alterations to brain structure and function.

Connectome architecture shapes large-scale cortical alterations in schizophrenia: a worldwide ENIGMA study

This study investigates how structural brain alterations in schizophrenia relate to network architecture, finding hub susceptibility and shared epicenters across disease stages and disorders.

A genome-wide mutational constraint map quantified from variation in 76,156 human genomes

Rare-variant depletion in 1kb windows of 76,156 gnomAD genomes, versus feature-adjusted mutation expectations, marks regulatory elements and outperforms seven alternative scores at flagging functional non-coding variants.

Inferring compound heterozygosity from large-scale exome sequencing data

The paper develops a method to infer compound heterozygosity from exome sequencing data, achieving high accuracy in phasing rare variants for recessive disease diagnosis.

Estimating multimodal brain variability in schizophrenia spectrum disorders: A worldwide ENIGMA study

This study examines structural brain heterogeneity in schizophrenia using multimodal MRI data from the ENIGMA dataset, finding higher frontotemporal heterogeneity and left parahippocampal homogeneity in patients.

Subcortical brain alterations in carriers of genomic copy number variants

This study examines subcortical brain alterations in CNV carriers across multiple neuropsychiatric disorders, finding shared and distinct patterns of structural changes.

Social isolation is linked to classical risk factors of Alzheimer's disease-related dementias

The paper examines the link between social isolation and Alzheimer's disease-related dementias risk using large population cohorts.

Normative Modeling of Brain Morphometry Across the Lifespan using CentileBrain: Algorithm Benchmarking and Model Optimization

The paper benchmarks and optimizes a normative modeling framework for brain morphometry across the lifespan using MFPR, showing excellent accuracy and stability.

Systematic Evaluation of Machine Learning Algorithms for Neuroanatomically-Based Age Prediction in Youth

This study evaluates 21 machine learning algorithms for predicting brain age from sMRI data in youth, finding Extreme Gradient Boosting, Random Forest Regression, and Support Vector Regression with Radial Basis Function Kernel as the top performers.

Rare CNVs and phenome-wide profiling: a tale of brain-structural divergence and phenotypical convergence

The paper investigates how eight rare CNVs affect brain structure and phenotypes across 534 carriers, finding structural divergence and phenotypic convergence despite different genetic origins.

Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia

Exomes of 24,248 schizophrenia cases and 97,322 controls implicate ultra-rare damaging variants in 10 genes, including GRIN2A and GRIA3, with odds ratios of 3 to 50.

Brain charts for the human lifespan

The paper introduces brain charts as a standardized resource for benchmarking brain morphology across the human lifespan using MRI data from a large and diverse cohort.

Subtly altered topological asymmetry of brain structural covariance networks in autism spectrum disorder across 43 datasets from the ENIGMA consortium

The paper examines hemispheric asymmetry in structural covariance networks in ASD across 43 datasets, finding altered topological features in specific brain regions.

Stability of Polygenic Scores Across Discovery Genome-Wide Association Studies

This study evaluates the stability of polygenic scores across different genome-wide association studies, finding low individual-level consistency and highlighting challenges for precision medicine.

Identifying Nootropic Drug Targets via Large-Scale Cognitive GWAS and Transcriptomics

This paper identifies potential nootropic drug targets by integrating large-scale cognitive GWAS and transcriptomic data to find credible druggable genes.

Atlas of functional connectivity relationships across rare and common genetic variants, traits, and psychiatric conditions

The paper examines how rare and common genomic variants affect brain functional connectivity, revealing how polygenicity and pleiotropy influence psychiatric conditions and brain networks.

Effects of Weather and Season on Human Brain Volume

This study examines the effects of season and weather on brain volumes using MRI data from 3,279 individuals, finding significant relationships between weather variables and specific brain regions.

Analysis of structural brain asymmetries in Attention-Deficit/Hyperactivity Disorder in 39 datasets

This study analyzes structural brain asymmetries in ADHD using 39 datasets, finding small effects that do not meet study-wide significance thresholds.