SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signalingYuh‐Charn Lin, Marco Tartaglia, Christian Beetz et al.|The American Journal of Human Genetics|2020Cited by 66
Biallelic <i>SQSTM1</i> mutations in early-onset, variably progressive neurodegenerationValentina Muto, Marco Tartaglia, Elisabetta Flex et al.|Neurology|2018Cited by 52
CRISPR/Cas9 and piggyBac Transposon-Based Conversion of a Pathogenic Biallelic TBCD Variant in a Patient-Derived iPSC Line Allows Correction of PEBAT-Related EndophenotypesValentina Muto, Marco Tartaglia|International Journal of Molecular Sciences|2023Cited by 4