John C. Mulley
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Epilepsy research and treatment, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Ion channel regulation and function
Most-Cited Works
- → Germline Mutations in the Extracellular Domains of the 55 kDa TNF Receptor, TNFR1, Define a Family of Dominantly Inherited Autoinflammatory Syndromes(1999)1,406 cited
- → A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy(1995)1,129 cited
- → Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel ß1 subunit gene SCN1B(1998)1,000 cited
- → Fragile X Genotype Characterized by an Unstable Region of DNA(1991)798 cited
- → Mutant GABAA receptor γ2-subunit in childhood absence epilepsy and febrile seizures(2001)782 cited
- → The spectrum of SCN1A-related infantile epileptic encephalopathies(2007)527 cited