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Research Interests

Papers共 27 篇Author StatisticsCo-AuthorSimilar Experts

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Functional evidence (I) transcripts and RNA-splicing outline
Mara Colombo,Paolo Radice,Miguel de la Hoya
Clinical DNA Variant Interpretationpp.121-144, (2021)
Cited0Views0Bibtex
0
0
The BRCA2 C.68-7T > A Variant is Not Pathogenic: A Model for Clinical Calibration of Spliceogenicity
Mara Colombo,Irene Lopez-Perolio,Huong D. Meeks,Laura Caleca,Michael T. Parsons,Hongyan Li,Giovanna De Vecchi,Emma Tudini,Claudia Foglia,Patrizia Mondini,Siranoush Manoukian,Raquel Behar,Encarna B. Gomez Garcia,Alfons Meindl,Marco Montagna,Dieter Niederacher,Ane Y. Schmidt,Liliana Varesco,Barbara Wappenschmidt,Manjeet K. Bolla,Joe Dennis,Kyriaki Michailidou,Qin Wang,Kristiina Aittomaki,Irene L. Andrulis,Hoda Anton-Culver,Volker Arndt,Matthias W. Beckmann,Alicia Beeghly-Fadel,Javier Benitez,Bram Boeckx,Natalia V. Bogdanova,Stig E. Bojesen,Bernardo Bonanni,Hiltrud Brauch,Hermann Brenner,Barbara Burwinkel,Jenny Chang-Claude,Don M. Conroy,Fergus J. Couch,Angela Cox,Simon S. Cross,Kamila Czene,Peter Devilee,Thilo Dork,Mikael Eriksson,Peter A. Fasching,Jonine Figueroa,Olivia Fletcher,Henrik Flyger,Marike Gabrielson,Montserrat Garcia-Closas,Graham G. Giles,Anna Gonzalez-Neira,Pascal Guenel,Christopher A. Haiman,Per Hall,Ute Hamann,Mikael Hartman,Jan Hauke,Antoinette Hollestelle,John L. Hopper,Anna Jakubowska,Audrey Jung,Veli-Matti Kosma,Diether Lambrechts, Loid Le Marchand,Annika Lindblom,Jan Lubinski,Arto Mannermaa,Sara Margolin,Hui Miao,Roger L. Milne,Susan L. Neuhausen,Heli Nevanlinna,Janet E. Olson,Paolo Peterlongo,Julian Peto,Katri Pylkas,Elinor J. Sawyer,Marjanka K. Schmidt,Rita K. Schmutzler,Andreas Schneeweiss,Minouk J. Schoemaker,Mee Hoong See,Melissa C. Southey,Anthony Swerdlow,Soo H. Teo,Amanda E. Toland,Ian Tomlinson,Therese Truong,Christi J. van Asperen,Ans M. W. van den Ouweland,Lizet E. van der Kolk,Robert Winqvist,Drakoulis Yannoukakos,Wei Zheng,Alison M. Dunning,Douglas F. Easton,Alex Henderson,Frans B. L. Hogervorst,Louise Izatt,Kenneth Offitt,Lucy E. Side,Elizabeth J. van Rensburg,Lesley McGuffog,Antonis C. Antoniou,Georgia Chenevix-Trench,Amanda B. Spurdle,David E. Goldgar,Miguel de la Hoya,Paolo Radice
Human mutation（2018）
Cited24Views0WOSBibtex
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Author Statistics

#Papers: 28

#Citation: 656

H-Index: 16

G-Index: 20

Sociability: 6

Diversity: 2

Activity: 1

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