Dana M. Bis‐Brewer

Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup

Logan C. Walker, Miguel de la Hoya, George A. R. Wiggins et al. · The American Journal of Human Genetics · 2023 · 254 citations · Full text

Acmg/amp Framework, Systems Biology, Functional Genomics +9

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Andrea Cortese, Yi Zhu, Adriana Rebelo et al. · Nature Genetics · 2020 · 170 citations · Full text

Biallelic Mutations, Somatic Variant, Genetic Disorder +9

Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial

Lüdger Schöls, Tim W. Rattay, Peter Martus et al. · Brain · 2017 · 104 citations · Full text

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

Petra Laššuthová, Adriana Rebelo, Gianina Ravenscroft et al. · The American Journal of Human Genetics · 2018 · 76 citations · Full text

Genome Instability, Molecular Physiology, Genetic Disorder +4

Glutathione S-Transferase Regulates Mitochondrial Populations in Axons through Increased Glutathione Oxidation

Gaynor A. Smith, Tzu-Huai Lin, Amy E. Sheehan et al. · Neuron · 2019 · 73 citations · Full text