Amy Pizzino

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

Clinical spectrum of 4H leukodystrophy caused by <i>POLR3A</i> and <i>POLR3B</i> mutations

Nicole I. Wolf, Adeline Vanderver, Rosalina M.L. van Spaendonk et al. · Neurology · 2014 · 203 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

Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation

Long Guo, Débora Romeo Bertola, Asako Takanohashi et al. · The American Journal of Human Genetics · 2019 · 125 citations · Full text

Neurodegenerative Diseases, Mendelian Disorder, Dysosteosclerosis-pyle Disease Spectrum +11

ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism

Sacha Ferdinandusse, Kim D. Falkenberg, Janet Koster et al. · Journal of Medical Genetics · 2016 · 116 citations