Miriam Bloom

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

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

Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies

Laura Adang, Omar Sherbini, Laura J. Ball et al. · Molecular Genetics and Metabolism · 2017 · 71 citations · Full text

Medicine, Rheumatology, Symptomatic Care +1

Identification of a Novel de Novo p.Phe932Ile KCNT1 Mutation in a Patient With Leukoencephalopathy and Severe Epilepsy

Adeline Vanderver, Cas Simons, Johanna Schmidt et al. · Pediatric Neurology · 2013 · 66 citations · Full text

Neurobiology Of Disease, Neurological Disorder, Severe Epilepsy +9