Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 96 publications
Correction: A novel mouse model of Duchenne muscular dystrophy carrying a multi-exonic Dmd deletion exhibits progressive muscular dystrophy and early-onset cardiomyopathy.
Journal: Disease models & mechanisms
Published: April 04, 2025
Template-assisted sequence knockin rescues skeletal and cardiac muscle function in a deletion model of Duchenne muscular dystrophy.
Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: March 03, 2025
Co-assembly of oligo-urethane nanoparticles with defined lipid additives to tailor RNA delivery into cells.
Journal: Acta biomaterialia
Published: February 24, 2025
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing.
Journal: NPJ genomic medicine
Published: December 06, 2024
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease.
Journal: NPJ genomic medicine
Published: September 05, 2024
Genetics Navigator: protocol for a mixed methods randomized controlled trial evaluating a digital platform to deliver genomic services in Canadian pediatric and adult populations.
Journal: BMJ open
Published: September 04, 2024
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.
Journal: Nature genetics
Published: June 16, 2024
Multi-gene duplication removal in an engineered human cellular MECP2 duplication syndrome model with an IRAK1-MECP2 duplication.
Journal: Molecular therapy. Nucleic acids
Published: December 01, 2023
Generation and characterization of a mouse model of Becker muscular dystrophy with a deletion of Dmd exons 52 to 55.
Journal: Disease models & mechanisms
Published: November 17, 2023
An Irak1-Mecp2 tandem duplication mouse model for the study of MECP2 duplication syndrome.
Journal: Disease models & mechanisms
Published: October 16, 2023
Last Updated: 09/26/2026