Troy A. McDiarmid

Multiplex programming of mappable, molecularly tagged genomic deletions

The paper introduces OPTIMuS PRIME-Del, a CRISPR-based method for multiplexed, precise deletion of cis-regulatory elements, validated through molecular tagging and scRNA-seq analysis.

Large-scale discovery of neural enhancers for cis-regulation therapies

The paper identifies active human neural enhancers and CRISPRa gRNAs that upregulate NDD risk genes, providing a resource for cis-regulatory therapy development.

Linking candidate causal autoimmune variants to T cell networks using genetic and epigenetic screens in primary human T cells.

The paper identifies 545 expression-modulating variants in CD4+ T cells linked to autoimmune diseases and shows they regulate genes in a lymphocyte activation network.

Extensive length and homology dependent chimerism in pool-packaged AAV libraries

The paper shows that AAV libraries packaged as pools exhibit extensive chimerism due to length and homology dependence, affecting most genomes.

Diversified, miniaturized and ancestral parts for mammalian genome engineering and molecular recording

The paper designs and characterizes diverse genomic parts for precise genome editing and molecular recording in mammalian cells.

Multiplex, single-cell CRISPRa screening for cell type specific regulatory elements

The paper describes a CRISPRa screening method combining multiplex perturbations with sc-RNA-seq to identify cell-type-specific regulatory elements and their target genes.

Chromatin context-dependent regulation and epigenetic manipulation of prime editing

This paper identifies epigenetic features affecting prime editing efficiency and shows how chromatin state can be manipulated to enhance or reduce editing efficiency at specific genomic loci.

A multiplex, prime editing framework for identifying drug resistance variants at scale

This paper introduces prime-SGE, a prime editing framework for assessing drug resistance variants across multiple oncogenes in a single experiment.

Rapid Assessment of the Temporal Function and Phenotypic Reversibility of Neurodevelopmental Disorder Risk Genes in C. elegans

The paper assesses the temporal function and phenotypic reversibility of neurodevelopmental disorder risk genes in C. elegans using a conditional degradation system and machine vision, finding varying degrees of reversibility across genes and phenotypes.

Peel-1 negative selection promotes screening-free CRISPR-Cas9 genome editing in Caenorhabditis elegans.

The paper adapts peel-1 negative selection to CRISPR-Cas9 genome editing in C. elegans, enabling automated screening-free generation and phenotyping of genome-edited animals.

Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction

The paper evaluates 106 PTEN variants using 18 assays across 5 models to identify molecular mechanisms of dysfunction, finding that stability and domain-specific assays are critical for accurate impact assessment.

Systematic phenomics analysis of ASD-associated genes reveals shared functions and parallel networks underlying reversible impairments in habituation learning

This study systematically analyzes ASD-associated genes in C. elegans, identifying phenotypic relationships and reversible impairments in habituation learning.

CaMK (CMK-1) and O-GlcNAc transferase (OGT-1) modulate mechanosensory responding and habituation in an interstimulus interval-dependent manner in Caenorhabditis elegans

This study shows that CMK-1 and OGT-1 modulate mechanosensory responses and habituation in C. elegans, with effects dependent on interstimulus interval.

CRISPR-Cas9 human gene replacement and phenomic characterization in Caenorhabditis elegans to understand the functional conservation of human genes and decipher variants of uncertain significance

This paper uses CRISPR-Cas9 in C. elegans to replace human genes and assess their function, showing it can classify disease variants accurately.