Andrew E. Timms

A Sensitized ENU Mutagenesis Screen for Thrombosis Modifiers Identifies Suppressor Variants in Non-mutagenized Parental Generations Due to Antithrombotic Selective Pressures

The paper identifies four spontaneous mutations that confer survival in a thrombosis model by reducing platelet aggregation and altering gene expression.

Known pathogenic gene variants and new candidates detected in Sudden Unexpected Infant Death using Whole Genome Sequencing

This study identifies known pathogenic variants and new candidates in SUID using WGS, highlighting genetic factors related to heart disease and redox metabolism.

Machine Learning Prediction of Non-Coding Variant Impact in Human Retinal Cis-Regulatory Elements

The paper trains a machine learning model on human retinal epigenomic data to predict the functional impact of non-coding regulatory variants.

Multi-omic Analysis of Developing Human Retina and Organoids Reveals Cell-Specific Cis-Regulatory Elements and Mechanisms of Non-Coding Genetic Disease Risk.

The paper identifies cell-class-specific cis-regulatory elements in human retina and organoids, showing their correlation and function in development and disease.

Gene regulatory networks controlling temporal patterning, neurogenesis and cell fate specification in the mammalian retina.

This study identifies gene regulatory networks controlling retinal development by integrating single-cell RNA and ATAC-seq data from mouse and human retinas, revealing transcription factors that regulate temporal patterning and cell fate.

Analysis of common PI3K-AKT-MTOR mutations in pediatric surgical epilepsy by droplet digital PCR reveals novel clinical and molecular insights

The paper uses ddPCR to analyze PI3K-AKT-MTOR mutations in pediatric epilepsy cases, finding associations between specific mutations and clinical phenotypes.

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

The paper characterizes the clinical and molecular features of 36 individuals with SETD1B variants, identifying a core phenotype of developmental delay and variable epilepsy, with male predominance and potential sex-linked effects.

Spatial and single-cell transcriptional landscape of human cerebellar development

This study maps the spatial and single-cell transcriptional landscape of human cerebellar development, revealing cell-type-specific gene expression and implications for neurological disorders.

Epigenomic Profiling and Single-Nucleus-RNA-Seq Reveal Cis-Regulatory Elements in Human Retina, Macula and RPE and Non-Coding Genetic Variation.

The paper identifies cis-regulatory elements and their genetic variation in human retina, macula, and RPE using epigenomic profiling and single-nucleus RNA-seq.