Guy Helman

Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

Yanick J. Crow, Diana Chase, Johanna L. Schmidt et al. · American Journal of Medical Genetics Part A · 2015 · 589 citations · Full text

Whole exome sequencing in patients with white matter abnormalities

Adeline Vanderver, Cas Simons, Guy Helman et al. · Annals of Neurology · 2016 · 143 citations · Full text

<i>SCN8A</i> encephalopathy: Research progress and prospects

Miriam H. Meisler, Guy Helman, Michael F. Hammer et al. · Epilepsia · 2016 · 130 citations · Full text

Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect

Cas Simons, Laurie B. Griffin, Guy Helman et al. · The American Journal of Human Genetics · 2015 · 112 citations · Full text

Persistent Myelination Defect, Neurological Disorder, Genetic Disorder +8

Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy

Huifang Yan, Guy Helman, Swetha E. Murthy et al. · The American Journal of Human Genetics · 2019 · 88 citations · Full text

Molecular Neuroscience, Developmental Biology, Neurophysiology +11