Nancy D. Merner

Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Is a Fully Penetrant, Lethal Arrhythmic Disorder Caused by a Missense Mutation in the TMEM43 Gene

Nancy D. Merner, Kathy Hodgkinson, Annika Haywood et al. · The American Journal of Human Genetics · 2008 · 502 citations · Full text

Cardiomyopathy, Heart Failure, Tmem43 Gene +9

KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2

Jean‐Baptiste Rivière, Siriram Ramalingam, Valérie Lavastre et al. · The American Journal of Human Genetics · 2011 · 203 citations · Full text

Synaptic Plasticity, Neuromuscular Junction, Molecular Neuroscience +15

Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor

Nancy D. Merner, Simon Girard, Hélène Catoire et al. · The American Journal of Human Genetics · 2012 · 194 citations · Full text

Essential Tremor, Somatic Variant, Genetic Disorder +5

Genetically encoded impairment of neuronal <scp>KCC</scp> 2 cotransporter function in human idiopathic generalized epilepsy

Kristopher T. Kahle, Nancy D. Merner, Perrine Friedel et al. · EMBO Reports · 2014 · 187 citations · Full text

Neurodegenerative Diseases, Molecular Neuroscience, Cotransporter Function +10

Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia

Nancy D. Merner, Madison R. Chandler, Cynthia V. Bourassa et al. · Frontiers in Cellular Neuroscience · 2015 · 125 citations · Full text