I
I. Rapado
Researcher at Wellcome Trust Sanger Institute
Publications - 11
Citations - 1107
I. Rapado is an academic researcher from Wellcome Trust Sanger Institute. The author has contributed to research in topics: Medicine & Internal medicine. The author has an hindex of 1, co-authored 1 publications receiving 965 citations.
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Journal ArticleDOI
Somatic SF3B1 Mutation in Myelodysplasia with Ring Sideroblasts
Elli Papaemmanuil,Mario Cazzola,Jacqueline Boultwood,Luca Malcovati,Paresh Vyas,David T. Bowen,Andrea Pellagatti,J. S. Wainscoat,Eva Hellström-Lindberg,Carlo Gambacorti-Passerini,Anna L. Godfrey,I. Rapado,Ana Cvejic,Ana Cvejic,Richard Rance,C. McGee,Peter R. Ellis,Laura Mudie,Phil Stephens,Stuart McLaren,Charles E. Massie,Patrick S. Tarpey,Ignacio Varela,Serena Nik-Zainal,Helen Davies,Adam Shlien,David T. Jones,Keiran Raine,Jonathon Hinton,Adam Butler,Jon W. Teague,E J Baxter,Joannah Score,Anna Gallì,M.G. Della Porta,Erica Travaglino,Michael J. Groves,Sudhir Tauro,Nikhil C. Munshi,Nikhil C. Munshi,KC Anderson,Adel K. El-Naggar,Andrej Fischer,Andrej Fischer,Ville Mustonen,Alan J. Warren,Nicholas C.P. Cross,Anthony R. Green,P A Futreal,Michael R. Stratton,Peter J. Campbell,Peter J. Campbell +51 more
TL;DR: Mutations in SF3B1 implicate abnormalities of messenger RNA splicing in the pathogenesis of myelodysplastic syndromes and were associated with down-regulation of key gene networks, including core mitochondrial pathways.
Journal ArticleDOI
Impact of FLT3–ITD Mutation Status and Its Ratio in a Cohort of 2901 Patients Undergoing Upfront Intensive Chemotherapy: A PETHEMA Registry Study
Rosa Ayala,Gonzalo Carreño-Tarragona,Eva Barragán,Blanca Boluda,María José Larrayoz,María C. Chillón,Estrella Carrillo-Cruz,Cristina Bilbao,Joaquin Sanchez-Garcia,Teresa Bernal,David Martínez-Cuadrón,Cristina Gil,Josefina Serrano,Carlos Rodríguez-Medina,Juan Bergua,José A. Pérez-Simón,María Calbacho,Juan-Manuel Alonso-Domínguez,Jorge Labrador,Mar Tormo,María-Luz Amigo,Pilar Herrera-Puente,I. Rapado,Claudia Sargas,Iria Vázquez,María José Calasanz,T. Gomez-Casares,Ramón García-Sanz,Miguel A. Sanz,Joaquin Martinez-Lopez,Pau Montesinos +30 more
TL;DR: In this paper , the prognostic impact of the FLT3-ITD allele ratio (AR) is investigated in acute myeloid leukemia (AML) patients with PETHEMA protocols.
Journal ArticleDOI
Different prognostic impact of recurrent gene mutations in chronic lymphocytic leukemia depending on IGHV gene somatic hypermutation status: a study by ERIC in HARMONY
Larry Mansouri,Birna Thorvaldsdottir,Lesley-Ann Sutton,Georgios Karakatsoulis,Manja Meggendorfer,Helen Parker,Ferran Nadeu,Christian Brieghel,Stamatia Laidou,Riccardo Moia,Davide Rossi,Mark Catherwood,Jana Kotašková,Julio Delgado,Ana E. Rodríguez-Vicente,Rocío Benito,Gian Matteo Rigolin,Silvia Bonfiglio,Lydia Scarfò,Mattias Mattsson,Zadie Davis,Ajay Gogia,Lata Rani,Panagiotis Baliakas,Hassan Foroughi-Asl,C. Jylhä,Aron Skaftason,I. Rapado,Fatima Miras,Joaquin Martinez-Lopez,J. De la Serna,J.M. Hernández Rivas,Patrick Thornton,María José Larrayoz,María José Calasanz,Viktória Fésüs,Zoltán Mátrai,Csaba Bödör,Karin E. Smedby,Blanca Espinet,Anna Puiggros,Ritu Gupta,Lars Bullinger,Francesc Bosch,Barbara Tazon-Vega,Fanny Baran-Marszak,David Oscier,Florence Nguyen-Khac,Thorsten Zenz,María José Terol,Antonio Cuneo,María Hernández-Sánchez,Šárka Pospíšilová,Ken I. Mills,Gianluca Gaidano,Carsten Utoft Niemann,Elias Campo,Jonathan C. Strefford,Paolo Ghia,Kostas Stamatopoulos,Richard Rosenquist +60 more
TL;DR: In this paper , the impact of gene mutations in patients with chronic lymphocytic leukemia (CLL) may differ depending on the immunoglobulin heavy variable (IGHV) gene somatic hypermutation (SHM) status.
Journal ArticleDOI
Standardization of molecular monitoring of CML: results and recommendations from the European treatment and outcome study
Helen E. White,M D Salmon,Francesco Albano,Christina Maar Andersen,Stefan Balabanov,Gueorgui Balatzenko,Gisela Barbany,Jean-Michel Cayuela,Nuno Cerveira,Pascale Cochaux,Dolors Colomer,Daniel Coriu,Joana Diamond,Christian Dietz,Stéphanie Dulucq,M. Engvall,Georg-Nikolaus Franke,Egle Gineikiene-Valentine,Michał Gniot,María Teresa Gómez-Casares,Enrico Gottardi,C. Hayden,Sandrine Hayette,Andreas Hedblom,Anca Ilea,Barbara Izzo,Antonio Jiménez-Velasco,Tomáš Jurček,Veli Kairisto,Stephen E. Langabeer,Thomas Lion,Nóra Meggyesi,S. Mesanovic,Ľuboslav Mihók,Gerlinde Mitterbauer-Hohendanner,Sylvia Moeckel,Nicole Naumann,Olivier Nibourel,Elisabeth Oppliger Leibundgut,Panayiotis Panayiotidis,Helena Podgornik,Christiane Pott,I. Rapado,S. Rose,Vivien Schäfer,Tasoula Touloumenidou,Christopher Veigaard,Bianca Venniker-Punt,Claudia Venturi,Paolo Vigneri,Ingvild Vorkinn,E Wilkinson,Renata Zadro,Magdalena Zawada,Hana Zizkova,Martin C. Müller,Susanne Saussele,Thomas Ernst,Katerina Machova Polakova,Andreas Hochhaus,Nicholas C.P. Cross +60 more
TL;DR: In this article , secondary reference panels are used to obtain and validate conversion factors in a manner equivalent to sample exchange and can also be used to monitor additional aspects of quality assurance, such as internal quality control.
Journal ArticleDOI
Real-life disease monitoring in follicular lymphoma patients using liquid biopsy ultra-deep sequencing and PET/CT
Ana Jiménez-Ubieto,María Poza,Alejandro Martín-Muñoz,Yanira Ruiz-Heredia,S. Dorado,G. Figaredo,Juan Manuel Rosa-Rosa,Antonia Rodriguez,Carmen Bárcena,Laura Parrilla Navamuel,Jaime Carrillo,Ricardo Sánchez,L. Rufian,Alexandra Juarez,M. Rodriguez,Chongwu Wang,P. de Toledo,Carlos Grande,Manuela Mollejo,L.F. Casado,María Calbacho,Tycho Baumann,I. Rapado,Miguel Gallardo,Pilar Sarandeses,Rosa Ayala,Joaquin Martinez-Lopez,Santiago Barrio +27 more
TL;DR: LiqBio-MRD was used in this article to track mutations in 95% of the lymph node samples and 80% of baseline samples and then used an ultra-deep sequencing approach with 2 · 10-4 sensitivity (LiqBio)-to track those mutations on 151 followup liquid biopsy samples from 54 treated patients.