Davide Tonduti

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 · 613 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency

Louis‐Daniel Brun, Lock Hock Ngu, Wee Teik Keng et al. · Neurology · 2010 · 225 citations

Medicine, Neurology, Neuroscience +17

cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

Carolina Uggenti, Alice Lepelley, Marine Depp et al. · Nature Genetics · 2020 · 197 citations · Full text

Life Sciences, Immunology, Molecular Biology +16

A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum

Cas Simons, Nicole I. Wolf, Nathan McNeil et al. · The American Journal of Human Genetics · 2013 · 194 citations · Full text

Life Sciences, Neurology, Neuroscience +16

Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy

Martine Tétreault, Karine Choquet, Simona Orcesi et al. · The American Journal of Human Genetics · 2011 · 187 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13