Jennie C. L. Roy

Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene

Bernd R. Seizinger, Guy A. Rouleau, Laurie J. Ozelius et al. · Cell · 1987 · 370 citations · Full text

Neuroregeneration, Developmental Biology, Peripheral Nerves +8

Somatic CAG expansion in Huntington's disease is dependent on the MLH3 endonuclease domain, which can be excluded via splice redirection

Jennie C. L. Roy, Antonia Vitalo, Marissa A Andrew et al. · Nucleic Acids Research · 2021 · 40 citations · Full text

Mlh3 Endonuclease Domain, Genetics, Molecular Biology +17

Splice modulators target PMS1 to reduce somatic expansion of the Huntington’s disease-associated CAG repeat

Zachariah L. McLean, Dadi Gao, Kevin Correia et al. · Nature Communications · 2024 · 33 citations · Full text

Linkage analysis in von Recklinghausen neurofibromatosis (NF1) with DNA markers for chromosome 17

Bernd R. Seizinger, Guy A. Rouleau, AH Lane et al. · Genomics · 1987 · 26 citations

Dna Markers, Chromatin, Mendelian Disorder +11

Base editing of trinucleotide repeats that cause Huntington’s disease and Friedreich’s ataxia reduces somatic repeat expansions in patient cells and in mice

Żaneta Matuszek, Mandana Arbab, Maheswaran Kesavan et al. · Nature Genetics · 2025 · 17 citations · Full text