Lacey Smith

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Katherine L. Helbig, Robert J. Lauerer, Jacqueline C Bahr et al. · The American Journal of Human Genetics · 2018 · 145 citations · Full text

Epileptic Encephalopathy, Neurobiology Of Disease, Pathogenesis +10

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

Ingo Helbig, Tania López-Hernández, Oded Shor et al. · The American Journal of Human Genetics · 2019 · 129 citations · Full text

Epileptic Encephalopathy, Signal Transduction, Developmental Biology +10

Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort

Anne Rochtus, Heather E. Olson, Lacey Smith et al. · Epilepsia · 2020 · 123 citations · Full text

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

Julie Xian, Shridhar Parthasarathy, Sarah M. Ruggiero et al. · Brain · 2021 · 111 citations · Full text

<i><scp>PCDH</scp>19</i>‐related epilepsy is associated with a broad neurodevelopmental spectrum

Lacey Smith, Nilika S. Singhal, Christelle Moufawad El Achkar et al. · Epilepsia · 2018 · 78 citations · Full text