Ashish R. Deshwar

Population-scale genome-wide prioritization of targets for allele-specific antisense oligonucleotide therapy design

This paper identifies population-scale SNV targets for allele-specific ASO therapy design, achieving high coverage across diverse ancestry groups and supporting clinical relevance.

A Generalizable, Governance-Embedded Pathway for Assessing Patient-Level Opportunities for Genetic Medicines

The paper describes a structured initiative to assess patient eligibility for genetic medicines, showing high uptake and feasibility of a multidisciplinary approach.

A scalable platform for exon-skipping antisense oligonucleotide therapy development for inborn genetic diseases

The paper develops a scalable platform for designing exon-skipping ASOs to treat genetic diseases by identifying dispensable exons and validating their therapeutic potential.

Role of the obligate STRIPAK complex component Mob4 in zebrafish vascular development and stability

This study investigates the role of Mob4, a STRIPAK complex component, in zebrafish vascular development and stability, revealing defects similar to cerebral cavernous malformation.

Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: a retrospective cohort study

The paper estimates the proportion of genetic diagnoses in a pediatric cohort that are amenable to antisense oligonucleotide therapy, finding 4.9% eligible or likely eligible.

Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorder

This study shows that partial loss of DOT1L causes transcriptional, morphological, and behavioral defects in neurons across multiple models.

Hey2 restricts cardiac progenitor addition to the developing heart

This study shows Hey2 restricts SHF progenitor addition to the zebrafish heart, preventing excessive myocardial cell growth and congenital heart defects.