Apex Foundation

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

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

A disease concept model for <i>STXBP1</i> ‐related disorders

Katie Rose Sullivan, Sarah M. Ruggiero, Julie Xian et al. · Epilepsia Open · 2023 · 28 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Early life seizures and epileptic spasms in <scp><i>STXBP1</i></scp>‐related disorders

Kim Marie Thalwitzer, Julie Xian, Danielle de Campo et al. · Epilepsia · 2024 · 17 citations · Full text

Medicine, Neurology, Neuroscience +17