Joseph Glessner

Integrative GWAS Identifies Novel Loci and Genetic Links Between Psychiatric and Metabolic Factors in Anorexia Nervosa

This study identifies a novel genetic locus near SOX5 and reveals causal links between psychiatric and metabolic factors in anorexia nervosa using integrative GWAS and cross-trait analysis.

Multi-Ancestry Genome-Wide Association Meta-Analysis Identifies Novel Loci in Atopic Dermatitis

This study conducts a multi-ancestry GWAS meta-analysis of 56,146 AD cases and 602,280 controls, identifying 101 genomic loci, 15 novel to AD or eczema, and linking them to AD pathophysiology through functional analyses.

Increased Expression of ZFPM2 Bypasses SRY to Drive 46,XX Testicular Development: A New Mechanism of 46,XX DSD

This paper identifies increased ZFPM2 dosage as a mechanism for 46,XX testicular development independent of SRY in a mosaic individual.

The copy number variant architecture of psychopathology and cognitive development in the ABCD study

This study identifies copy number variants (CNVs) associated with child psychopathology and cognitive function using data from the ABCD study.

The molecular genetic landscape of human brain size variation

This study identifies 928 genes associated with brain weight variation across three datasets and links them to neurodevelopmental processes and brain function.

High density SNP array and reanalysis of genome sequencing uncovers CNVs associated with neurodevelopmental disorders in KOLF2.1J iPSCs

The paper identifies CNVs in KOLF2.1J iPSCs linked to neurological disorders, showing they arose in vitro and affect gene expression in neural cells.

Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populations

The paper selects and validates ten polygenic risk scores for clinical use in diverse populations, focusing on chronic diseases and addressing disparities in predictive performance.

A cross-disorder dosage sensitivity map of the human genome

This study identifies 114 genome-wide significant rare CNV-disease associations across 30 neurological disorders, revealing 38 novel triplosensitive genes and developing a model to predict dosage sensitivity.

Arrhythmia variant associations and reclassifications in the eMERGE-III sequencing study

The paper identifies pathogenic variants in arrhythmia genes in eMERGE-III participants and reclassifies variants of uncertain significance using functional studies.

Insights into genetic factors contributing to variability in SARS-CoV-2 susceptibility and COVID-19 disease severity

This study identifies genetic loci associated with SARS-CoV-2 susceptibility and disease severity using GWAS and colocalization, and links them to eQTLs in various tissues.

Genetics of Low Polygenic Risk Score Type 1 Diabetes Patients: rare variants in 22 novel loci

This study identifies 22 novel genetic loci associated with low polygenic risk score type 1 diabetes by analyzing rare variants in two independent cohorts.

Neptune: An environment for the delivery of genomic medicine

Neptune delivers structured genomic data to EHR systems through customizable reports and variant reanalysis, supporting over 15,000 clinical reports.

Genetic correlations between COVID-19 and a variety of diseases and other medically relevant traits

This study identifies genetic correlations between COVID-19 and various diseases and traits using GWAS data, validating known risk factors and reporting novel associations.

Machine Learning for Interpretation of DNA Variants of Maturity-Onset Diabetes of the Young Genes Based on ACMG Criteria

This paper develops a machine learning model to interpret DNA variants in MODY genes using ACMG criteria, achieving over 95% accuracy for gene-specific classification.

Limited contribution of rare, noncoding variation to autism spectrum disorder from sequencing of 2,076 genomes in quartet families

This study examines the role of noncoding variation in autism spectrum disorder using whole genome sequencing of 2,076 genomes, finding no significant association after correction for multiple testing.