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Roberta Sestini

University of Florence

66

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1515

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Correction to: Epigenomic, genomic, and transcriptomic landscape of schwannomatosis.

2020 Acta Neuropathologica
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Schwannomatosis associated schwannomas show a different NF2 mutational spectrum compared to Neurofibromatosis type 2 patients

2019
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Double somatic SMARCB1 and NF2 mutations in sporadic spinal schwannoma

2018 Journal of Neuro-oncology
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Evaluation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Mutation Detection

2018 The Journal of Molecular Diagnostics
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Transition Towards a Green Economy in Europe: Innovation and Knowledge Integration in the Renewable Energy Sector

2018 Research Policy
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A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas.

2017 Childs Nervous System
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A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency

2017 Clinical Genetics
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A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria

2016
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A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene

2015 PLOS ONE
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Broadening the spectrum of SMARCB1-associated malignant tumors: a case of uterine leiomyosarcoma in a patient with schwannomatosis

2015 Human Pathology
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