John C. Mulley

Germline Mutations in the Extracellular Domains of the 55 kDa TNF Receptor, TNFR1, Define a Family of Dominantly Inherited Autoinflammatory Syndromes

Michael McDermott, Ivona Aksentijevich, Jérôme Galon et al. · Cell · 1999 · 1.4K citations · Full text

Molecular Physiology, Autoimmune Disease, Disease Mechanism +12

A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

Ortrud K. Steinlein, John C. Mulley, Peter Propping et al. · Nature Genetics · 1995 · 1.1K citations

Synaptic Plasticity, Molecular Neuroscience, Neurobiology Of Disease +12

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel ß1 subunit gene SCN1B

Robyn H. Wallace, Dao Wen Wang, Rita Singh et al. · Nature Genetics · 1998 · 1K citations

Neurophysiology, Genetic Disorder, Genetics +9

Fragile X Genotype Characterized by an Unstable Region of DNA

Shuancang Yu, Melanie Pritchard, Eric J. Kremer et al. · Science · 1991 · 796 citations

Cytogenetics, Fragile X Genotype, Genetics +20

Mutant GABAA receptor γ2-subunit in childhood absence epilepsy and febrile seizures

Robyn H. Wallace, Carla Marini, Steven Petrou et al. · Nature Genetics · 2001 · 781 citations

Neurobiology Of Disease, Febrile Seizures, Neuropharmacology +6