Robert J. Bryson‐Richardson

Biallelic variants in HMGCS1 are a novel cause of rare rigid spine syndrome

This study identifies biallelic HMGCS1 variants as a novel cause of rigid spine syndrome, showing hypomorphic effects through functional and clinical analyses.

CRIMP: A CRISPR/Cas9 Insertional Mutagenesis Protocol and the CRIMP Toolkit

The paper introduces CRIMP, a CRISPR/Cas9 insertional mutagenesis system, and CRIMPkit, a plasmid toolkit for efficient gene disruption in fish without genetic compensation.

Novel pre-clinical model for CDKL5 Deficiency Disorder

This study develops a zebrafish model for CDKL5 Deficiency Disorder to investigate disease mechanisms and screen for therapies.

Metformin rescues muscle function in BAG3 myofibrillar myopathy models

This study identifies Metformin as a potential therapy for BAG3 myofibrillar myopathy by rescuing muscle function in zebrafish models and reducing protein aggregates in human cells.

L-tyrosine supplementation is not therapeutic for skeletal muscle dysfunction in zebrafish and mouse models of dominant skeletal muscle α-actin nemaline myopathy.

This study shows L-tyrosine supplementation does not improve skeletal muscle function in zebrafish and mouse models of nemaline myopathy caused by ACTA1 mutations.