Irene Paganini

Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation

Costanza Bacci, Roberta Sestini, Aldesia Provenzano et al. · Neurogenetics · 2009 · 101 citations

Neuro-oncology, Familial Smarcb1 Mutation, Mendelian Disorder +6

Expanding the mutational spectrum of LZTR1 in schwannomatosis

Irene Paganini, Vivian Y. Chang, Gabriele Lorenzo Capone et al. · European Journal of Human Genetics · 2014 · 80 citations · Full text

A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas

Rosario Caltabiano, Gaetano Magro, Agata Polizzi et al. · Child s Nervous System · 2017 · 62 citations

Neuro-oncology, Vestibular Schwannoma, Mosaic Pattern +7

A novel <i><scp>PAX1</scp></i> null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency

Irene Paganini, Roberta Sestini, Gabriele Lorenzo Capone et al. · Clinical Genetics · 2017 · 55 citations

Developmental Anomaly, Otofaciocervical Syndrome, Developmental Biology +15

Epigenomic, genomic, and transcriptomic landscape of schwannomatosis

Sheila Mansouri, Suganth Suppiah, Yasin Mamatjan et al. · Acta Neuropathologica · 2020 · 48 citations · Full text