Statistics
Publications
11
Citations
420
H-Index
11
Active since
2014
11
Biallelic <i>SQSTM1</i> mutations in early-onset, variably progressive neurodegeneration
Valentina Muto, Elisabetta Flex, Zachary A Kupchinsky et al. · Neurology · 2018 · 52 citations · Full text
Novel <i>SMAD4</i> mutation causing Myhre syndrome
Viviana Caputo, Gianfranco Bocchinfuso, Marco Castori et al. · American Journal of Medical Genetics Part A · 2014 · 40 citations
1–5 of 11