John M. Schreiber

<i>GRIN2A</i> mutation and early‐onset epileptic encephalopathy: personalized therapy with memantine

Tyler Mark Pierson, Hongjie Yuan, Eric D. Marsh et al. · Annals of Clinical and Translational Neurology · 2014 · 292 citations · Full text

The evolution of photosynthesis in chromist algae through serial endosymbioses

John W. Stiller, John M. Schreiber, Jipei Yue et al. · Nature Communications · 2014 · 207 citations · Full text

Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation

Christina Lam, Carlos R. Ferreira, Donna M. Krasnewich et al. · Genetics in Medicine · 2016 · 145 citations · Full text

Developmental Biology, Genetic Disorder, Genetics +6

<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