Sarah M. Ruggiero

Assessing the landscape of <i>STXBP1</i>-related disorders in 534 individuals

Julie Xian, Shridhar Parthasarathy, Sarah M. Ruggiero et al. · Brain · 2021 · 122 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood

Hannah Stamberger, David Crosiers, Ganna Balagura et al. · Neurology · 2022 · 56 citations · Full text

Medicine, Neurology, Neuroscience +13

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Dong Li, Qin Wang, Allan Bayat et al. · Journal of Clinical Investigation · 2023 · 44 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Delineating clinical and developmental outcomes in <i>STXBP1</i>-related disorders

Julie Xian, Kim Marie Thalwitzer, Jillian L. McKee et al. · Brain · 2023 · 39 citations · Full text

Medicine, Neurology, Neuroscience +16

Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders

Lydie Bürglen, Evelien Van Hoeymissen, Leila Qebibo et al. · eLife · 2023 · 38 citations · Full text

Life Sciences, Molecular Genetics, Neuroscience +13