Miriam H. Meisler

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

Andrew Escayg, Bryan T. MacDonald, Miriam H. Meisler et al. · Nature Genetics · 2000 · 984 citations

Neuronal Sodium Channel, Channelopathies, Molecular Neuroscience +11

Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J

Clement Y. Chow, Yanling Zhang, James J. Dowling et al. · Nature · 2007 · 505 citations · Full text

Knockout Mouse, Genetic Disorder, Natural Sciences +8

De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP

Krishna R. Veeramah, Janelle E. O’Brien, Miriam H. Meisler et al. · The American Journal of Human Genetics · 2012 · 434 citations · Full text

Whole-genome Sequencing, Genetic Disorder, Genetics +8

Clinical application of exome sequencing in undiagnosed genetic conditions

Anna C. Need, Vandana Shashi, Yuki Hitomi et al. · Journal of Medical Genetics · 2012 · 433 citations · Full text

Coding and Noncoding Variation of the Human Calcium-Channel β4-Subunit Gene CACNB4 in Patients with Idiopathic Generalized Epilepsy and Episodic Ataxia

Andrew Escayg, Michel De Waard, David D. Lee et al. · The American Journal of Human Genetics · 2000 · 416 citations · Full text

Noncoding Variation, Idiopathic Generalized Epilepsy, Molecular Neuroscience +9