Amy Schneider

机构：The University of Melbourne, Austin Health · ORCID：0000-0001-5260-7187

发表论文 72 篇 · 总被引 3651 次 · h-index 30

代表论文

• Rates of Status Epilepticus and Sudden Unexplained Death in Epilepsy in People With Genetic Developmental and Epileptic Encephalopathies (2023 · Neurology · 被引 93)
• Genotype–phenotype associations in 1018 individuals with SCN1A ‐related epilepsies (2024 · Epilepsia · 被引 38)
• Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement (2024 · Nature Communications · 被引 25)
• Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike–Wave Activation in Sleep (D/EE‐SWAS ) (2024 · Annals of Neurology · 被引 19)
• Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless (2024 · Orphanet Journal of Rare Diseases · 被引 10)
• BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients (2023 · European Journal of Human Genetics · 被引 10)