Ryan Murtha

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

Stephan Sanders, Michael T. Murtha, Abha R. Gupta et al. · Nature · 2012 · 2.1K citations

Neurodevelopmental Disorders, Syndromic Autism, Whole-exome Sequencing +9

Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington’s disease knock-in mice is blocked by Mlh1 knock-out

Jacob M. Loupe, Ricardo Mouro Pinto, Kyung‐Hee Kim et al. · Human Molecular Genetics · 2020 · 89 citations · Full text

Somatic Expansion, Knockout Mouse, Genome Instability +13

In vivo CRISPR–Cas9 genome editing in mice identifies genetic modifiers of somatic CAG repeat instability in Huntington’s disease

Ricardo Mouro Pinto, Ryan Murtha, António Azevedo et al. · Nature Genetics · 2025 · 38 citations · Full text

Assessing average somatic CAG repeat instability at the protein level

Hubert Aviolat, Ricardo Mouro Pinto, Elizabeth Godschall et al. · Scientific Reports · 2019 · 24 citations · Full text

Identification of genetic modifiers of Huntington’s disease somatic CAG repeat instability by in vivo CRISPR-Cas9 genome editing

Ricardo Mouro Pinto, Ryan Murtha, António Azevedo et al. · 2024 · 13 citations · Full text