Ryan Murtha
Massachusetts General Hospital(US)
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, Neurological disorders and treatments, Autism Spectrum Disorder Research, DNA Repair Mechanisms
Most-Cited Works
- → De novo mutations revealed by whole-exome sequencing are strongly associated with autism(2012)2,152 cited
- → Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington’s disease knock-in mice is blocked by Mlh1 knock-out(2020)90 cited
- → In vivo CRISPR–Cas9 genome editing in mice identifies genetic modifiers of somatic CAG repeat instability in Huntington’s disease(2025)44 cited
- → Assessing average somatic CAG repeat instability at the protein level(2019)24 cited
- → Identification of genetic modifiers of Huntington’s disease somatic CAG repeat instability by in vivo CRISPR-Cas9 genome editing(2024)13 cited
- → Dissecting the Genomics of Spontaneous Coronary Artery Dissection(2022)3 cited
- → The contribution of RBM20 truncating variants to human cardiomyopathy(2025)2 cited
- → Huntington’s disease LIG1 modifier variant increases ligase fidelity and suppresses somatic CAG repeat expansion(2026)
- → Cardiovascular genetic counseling is associated with improved patient-reported outcomes across clinical indications and settings(2025)