Amanda Lindy

Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders

Amanda Lindy, Mary Beth Stosser, Elizabeth Butler et al. · Epilepsia · 2018 · 309 citations · Full text

Life Sciences, Genetics, Epilepsy +9

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 · 305 citations · Full text

Life Sciences, Bioinformatics, Molecular Biology +14

High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders

Mary Beth Stosser, Amanda Lindy, Elizabeth Butler et al. · Genetics in Medicine · 2017 · 178 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants

Javier A. López-Rivera, Eduardo Pérez‐Palma, Joseph D. Symonds et al. · Brain · 2020 · 159 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity

Carlos G. Vanoye, Reshma R. Desai, Zhigang Ji et al. · JCI Insight · 2022 · 65 citations · Full text

Medicine, Molecular Genetics, Pharmacology +17