Patrick Cossette
Publications by Year
Research Areas
Epilepsy research and treatment, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Neuroscience and Neuropharmacology Research, RNA and protein synthesis mechanisms
Most-Cited Works
- → Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy(2002)650 cited
- → Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies(2018)499 cited
- → High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies(2017)451 cited
- → Mutations in DEPDC5 cause familial focal epilepsy with variable foci(2013)359 cited
- → Novel de novo SHANK3 mutation in autistic patients(2008)321 cited
- → Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia(2010)318 cited
- → Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals(2019)299 cited
- → Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations(2015)280 cited
- → SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function(2011)235 cited
- → Ultra-rare genetic variation in common epilepsies: a case-control sequencing study(2017)234 cited