Iryna V. Lobach

Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development

This study identifies DDX3X mutations as causing neurodevelopmental disorders by disrupting RNA metabolism and neurogenesis during fetal cortical development.

Genetic effect estimates in case-control studies when a continuous variable is omitted from the model

The paper assesses bias in genetic effect estimates when a continuous variable is omitted from logistic regression models in case-control studies and proposes methods to recover this bias.

Case-Control Vs. Case-Only Estimates Of Gene-Environment Interactions With Common And Misclassified Clinical Diagosis

The paper compares case-control and case-only estimates for gene-environment interactions in the presence of misclassified clinical diagnoses, using simulations and an Alzheimer's disease study.

A simple approximation to bias in gene-environment interaction estimates when a case might not be the case

The paper derives a simple approximation to bias in gene-environment interaction estimates when clinically diagnosed cases may include a nuisance pathologic state, and demonstrates its validity through simulations and an Alzheimer's disease study.

A SIMPLE APPROXIMATION TO THE BIAS IN THE GENETIC EFFECT ESTIMATES WHEN MULTIPLE DISEASE STATES SHARE A CLINICAL DIAGNOSIS

The paper derives a simple approximation to correct genetic effect estimates in case-control GWAS when multiple disease states share a clinical diagnosis and applies it to Alzheimer's disease.

A Simple Approximation To The Bias Of Gene-Environment Interactions In Case/Control Studies With Silent Disease

The paper derives a theoretical approximation for bias in gene-environment interaction estimates in case-control studies with silent disease and validates it through simulations and a prostate cancer study.