M. Leach

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Emily C. Oates, Kristi Jones, Sandra Donkervoort et al. · Annals of Neurology · 2018 · 164 citations · Full text

Medicine, Molecular Genetics, Pathology +13

P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye

Yaqun Zou, Sandra Donkervoort, Antti M. Salo et al. · Human Molecular Genetics · 2017 · 58 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies

Minal S. Jain, Katherine G. Meilleur, Eunhee Kim et al. · Neurology · 2019 · 52 citations · Full text

Medicine, Biostatistics, Pediatrics +10

Novel De Novo Mutations in <i>KIF1A</i> as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement

Leslie Hotchkiss, Sandra Donkervoort, M. Leach et al. · Journal of Child Neurology · 2016 · 50 citations · Full text

Life Sciences, Genetics, Neurology +17

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

Sandra Donkervoort, Rasha Sabouny, Pomi Yun et al. · Acta Neuropathologica · 2019 · 50 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17