Riley M. McCarty

Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores

Sandra Donkervoort, Carl Elias Kutzner, Ying Hu et al. · The American Journal of Human Genetics · 2020 · 46 citations · Full text

Medicine, Molecular Genetics, Pathobiology +9

Biallelic loss of function variants in <scp><i>SYT2</i></scp> cause a treatable congenital onset presynaptic myasthenic syndrome

Sandra Donkervoort, Payam Mohassel, Lucia Laugwitz et al. · American Journal of Medical Genetics Part A · 2020 · 28 citations · Full text

Medicine, Genetics, Neurology +17

Daily-life affective instability in emotional distress disorders is associated with function and structure of posterior parietal cortex

Jessica P.Y. Hua, Timothy J. Trull, Anne M. Merrill et al. · Psychiatry Research Neuroimaging · 2019 · 24 citations

Education, Neuroscience, Psychiatry +16

Optimized allele-specific silencing of the dominant-negative COL6A1 G293R substitution causing collagen VI-related dystrophy

Astrid Brull, Apurva Sarathy, Véronique Bolduc et al. · Molecular Therapy — Nucleic Acids · 2024 · 15 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

Clinical and Molecular Spectrum Associated with <i>COL6A3</i> c.7447A&gt;G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies

Rocío N. Villar‐Quiles, Sandra Donkervoort, Alix de Becdelièvre et al. · Journal of Neuromuscular Diseases · 2021 · 10 citations

Medicine, Genetics, Molecular Genetics +17