Laura Rosa Pisani

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Vincenzo Salpietro, Christine L. Dixon, Hui Guo et al. · Nature Communications · 2019 · 249 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Defining the phenotypic spectrum of <i>SLC6A1</i> mutations

Katrine M. Johannesen, Elena Gardella, Tarja Linnankivi et al. · Epilepsia · 2018 · 152 citations · Full text

Medicine, Genetics, Neurology +17

Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet–Biedl Syndrome 9 (BBS9) deletion

Jennifer Reiner, Laura Rosa Pisani, Wanqiong Qiao et al. · npj Genomic Medicine · 2018 · 122 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Hyperhomocysteinemia in epileptic patients on new antiepileptic drugs

Vincenzo Belcastro, Pasquale Striano, Gaetano Gorgone et al. · Epilepsia · 2009 · 101 citations

Medicine, Genetics, Pharmacology +14

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