Bruce R. Conklin

EXCAVATE-HT identifies targetable genomic variants for allele-specific CRISPR editing by analyzing population data and generating gRNA libraries.

This paper identifies therapeutic opportunities for over 500 genes with dominant and dispensable disease alleles by enabling mutation-agnostic gene therapy through allele-specific targeting.

This paper develops a vision transformer framework to classify CMT2A disease phenotypes in iPSC motor neurons using kymographs, showing improved accuracy over traditional metrics.

This paper demonstrates haplotype editing with CRISPR/Cas9 to target NEFL missense mutations in iPSC-derived motor neurons, showing therapeutic potential and challenges in disrupting mutant allele expression.

The paper investigates DNA repair in postmitotic neurons and shows that manipulating repair pathways can influence CRISPR editing outcomes.

This paper introduces RENDER, a method for transient delivery of CRISPR-based epigenome editors as ribonucleoproteins to modulate gene expression in human cells, achieving durable epigenetic silencing.

The paper develops a cardiac microphysiological system to screen lipid nanoparticle/mRNA complexes and identifies a formulation with improved transfection efficiency and reduced off-target liver uptake.

This paper describes a genome editing strategy that restores hemoglobin production in α-thalassemia major-derived hematopoietic stem and progenitor cells by integrating a functional α-globin gene and a truncated erythropoietin receptor.

This study investigates the functional impact of a BAG3 allele associated with reduced heart failure risk, showing it enhances cardiomyocyte stress resistance through altered protein interactions.

The paper identifies and characterizes a reference iPSC line, KOLF2.1J, for standardized use in collaborative studies across multiple differentiation protocols and assays.

This study evaluates three CRISPR/Cas9 approaches to correct C9orf72 repeat expansion in patient-derived neurons, finding that repeat and mutant allele excision fully eliminate dipeptide repeats.

This paper demonstrates allele-specific CRISPR gene editing in a human CMT2E model rescues disease pathology by inactivating the mutant NEFL allele.

This study shows that reducing E-cadherin in 3D encapsulated human pluripotent stem cells leads to extraembryonic fates and multilineage differentiation, mimicking early embryonic development.

The paper introduces ddXR, a method to rapidly and accurately quantify DNA excisions and inversions without sequencing, revealing high rates of large excisions and low dependence on linear distance.

The paper identifies CDC7 inhibition as a method to enhance HDR efficiency in CRISPR-Cas9 gene editing by inducing an early S-phase cell cycle arrest.

AlleleAnalyzer designs personalized and allele-specific sgRNAs to improve CRISPR/Cas editing performance by accounting for individual genetic variants.

The paper identifies cis-regulatory chromatin contacts in neural cells and links them to genetic variants associated with complex neurological disorders.

This paper introduces DISCOVER-Seq, a method to detect CRISPR off-targets in vivo with single-base resolution, applicable to multiple Cas nucleases.