Roberto Tirabosco
Royal National Orthopaedic Hospital
125 Papers
251 Citations
Roberto Tirabosco is an academic researcher from Royal National Orthopaedic Hospital. The author has contributed to research in topics: Medicine & Biology. The author has an hindex of 42, co-authored 110 publications.
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Papers
An overview and update on bone lesion in craniofacial bones
Calum Connolly,Vaishnavi Sabarigirivasan,Lucia Cottone,Adrienne M. Flanagan,Roberto Tirabosco +4 more
TL;DR: Key clinical, histologic features of bone tumours are reviewed and the recent advances made in understanding the pathology of bone lesions in the head and neck region are highlighted.
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Erratum: Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone (Nature Genetics (2014) 45 (1479-1482))
Sam Behjati,Patrick S. Tarpey,Nadege Presneau,Susanne Scheipl,Nischalan Pillay,Peter Van Loo,David C. Wedge,Susanna L. Cooke,Gunes Gundem,Helen Davies,Serena Nik-Zainal,Sancha Martin,Stuart McLaren,Victoria Goodie,Ben Robinson,Adam Butler,Jon W. Teague,Dina Halai,Bhavisha Khatri,Ola Myklebost,Daniel Baumhoer,Gernot Jundt,Rifat Hamoudi,Roberto Tirabosco,M Fernanda Amary,P. Andrew Futreal,Michael R. Stratton,Peter J. Campbell,Adrienne M. Flanagan +28 more
TL;DR: In this paper, distinct H3F3A and H 3F3B driver mutations were defined for chondroblastoma and giant cell tumor of bone, respectively, and they were shown to be useful for diagnosis of bone cancer.
Mechanisms underpinning osteosarcoma genome complexity and evolution
Jose Espejo Valle-Inclan,Solange De Noon,Katherine Trevers,Hillary Elrick,Mélanie Tanguy,Thomas Butters,Francesc Muyas,Fernanda Amary,Roberto Tirabosco,Adriane Giess,Alona Sosinky,Greg Elgar,Adrienne M. Flanagan,Isidro Cortes-Ciriano +13 more
TL;DR: Using multi-region whole-genome sequencing, it is found that chromothripsis is an ongoing mutational process, occurring subclonally in 74% of tumours and genome-wide loss of heterozygosity is identified as a strong prognostic indicator for high-grade osteosarcoma.
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SAVANA: reliable analysis of somatic structural variants and copy number aberrations using long-read sequencing
Hillary Elrick,Carolyn Sauer,Jose Espejo Valle-Inclán,Katherine Trevers,M. Tanguy,Sonia Zumalave,Solange De Noon,Francesc Muyas,Rita Cascão,Angela Afonso,Alistair G. Rust,Fernanda Amary,Roberto Tirabosco,Adriane Giess,Timothy Freeman,Alona Sosinsky,Katherine Piculell,David T Miller,Cláudia C. Faria,Greg Elgar,Adrienne M. Flanagan,Isidro Cortes-Ciriano +21 more
TL;DR: SAVANA is an algorithm that detects somatic structural variants and copy number aberrations with high sensitivity and specificity using long-read sequencing data, outperforming other methods and offering compatibility with or without germline controls.
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P63 does not regulate brachyury expression in human chordomas and osteosarcomas.
Nischalan Pillay,Nischalan Pillay,Fernanda Amary,Fernanda Amary,Fitim Berisha,Roberto Tirabosco,Adrienne M. Flanagan,Adrienne M. Flanagan +7 more
TL;DR: In case 2, at low magnification the overall configuration of the gland was disrupted, but on higher magnification it was clear that this was due to a foreign body-type reaction to the keratin liberated from Hassall’s corpuscles.
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