Stephen Malone

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

Gemma L. Carvill, Sinéad B. Heavin, Simone C. Yendle et al. · Nature Genetics · 2013 · 683 citations · Full text

Genetics, Novo Mutations, Neurotransmission +5

Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome

Bronwyn E. Grinton, Sarah E. Heron, James T. Pelekanos et al. · Epilepsia · 2015 · 125 citations

Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy

Costin Leu, Simona Balestrini, Bridget H. Maher et al. · EBioMedicine · 2015 · 84 citations · Full text

Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain

Zimeng Ye, Zac Chatterton, Jahnvi Pflueger et al. · Brain Communications · 2021 · 74 citations · Full text

Isolated seizures during the first episode of relapsing myelin oligodendrocyte glycoprotein antibody‐associated demyelination in children

Sudarshini Ramanathan, Gina O’Grady, Stephen Malone et al. · Developmental Medicine & Child Neurology · 2018 · 68 citations · Full text