Marcello Niceta

A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

Michael T. Lam, Simona Coppola, Oliver H.F. Krumbach et al. · The Journal of Experimental Medicine · 2019 · 203 citations · Full text

Medicine, Hematology, Immunology +12

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

Marcello Niceta, Emilia Stellacci, Karen W. Gripp et al. · The American Journal of Human Genetics · 2015 · 117 citations · Full text

Life Sciences, Developmental Biology, Genetics +17

A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome

Viviana Caputo, L Cianetti, Marcello Niceta et al. · The American Journal of Human Genetics · 2012 · 103 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Persistent episomal transgene expression in liver following delivery of a scaffold/matrix attachment region containing non-viral vector

Orestis Argyros, Suet Ping Wong, Marcello Niceta et al. · Gene Therapy · 2008 · 95 citations

Life Sciences, Molecular Biology, Molecular Genetics +15

Biallelic Mutations in TBCD , Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

Elisabetta Flex, Marcello Niceta, Serena Cecchetti et al. · The American Journal of Human Genetics · 2016 · 80 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17