Louise Amlie‐Wolf

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice

Dianalee McKnight, Ana Morales, Kathryn E. Hatchell et al. · JAMA Neurology · 2022 · 94 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Sarah E. Sheppard, Ian M. Campbell, Margaret Harr et al. · American Journal of Medical Genetics Part A · 2021 · 72 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

Christopher Chun Yu Mak, Dan Doherty, Angela E. Lin et al. · Brain · 2019 · 54 citations · Full text

Medicine, Genetics, Molecular Genetics +17

<i>De novo DHDDS</i> variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus

Serena Galosi, Ban H. Edani, Simone Martinelli et al. · Brain · 2021 · 42 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates

Melissa J MacPherson, Sarah L. Erickson, Drayden Kopp et al. · Cell Reports · 2021 · 39 citations · Full text

Life Sciences, Developmental Biology, Molecular Biology +17