Ronald D. Cohn

Brain development mutations in the β-tubulin TUBB result in defective ciliogenesis

The paper identifies a novel TUBB mutation linked to both ciliopathy and tubulinopathy brain features, showing it impairs ciliogenesis by altering microtubule dynamics.

Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing

This study evaluates how blood transcriptome profiling adds value to genome sequencing in diagnosing rare genetic disorders in a pediatric cohort.

Generation and characterization of a novel mouse model of Becker Muscular Dystrophy with a deletion of exons 52 to 55

The paper generates a mouse model with an in-frame deletion of exons 52-55 in Dmd, mimicking Becker Muscular Dystrophy, and characterizes its long-term effects on muscle and heart function.

A Cas9-fusion proximity-based approach generates an Irak1-Mecp2 tandem duplication mouse model for the study of MeCP2 duplication syndrome.

This paper describes a CRISPR/Cas9-based method to create a mouse model with a tandem duplication of Irak1 and Mecp2, which exhibits MDS-like neurological and immune phenotypes.

Saturation variant interpretation using CRISPR prime editing

The paper uses CRISPR prime editing to functionally interpret variants in NPC1 and BRCA2 genes by haploidizing cell lines and scoring 256 and 465 variants respectively.

Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy

The paper develops a cell-based assay to identify pathogenic CAD variants and identifies 11 individuals likely to benefit from uridine therapy.

Modelling Niemann-Pick disease type C in a human haploid cell line allows for patient variant characterization and clinical interpretation.

This paper develops a haploid cell model for Niemann-Pick disease type C to characterize patient variants and enable clinical interpretation.

A mutation-independent approach via transcriptional upregulation of a disease modifier gene rescues muscular dystrophy in vivo.

This paper demonstrates that upregulating a disease modifier gene using CRISPR/dCas9 can rescue muscular dystrophy in mice, showing that muscle fibrosis may be reversible.