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Author/Creator Parsons, Michael T.

11. Mutational spectrum in a worldwide study of 29, 700 families with BRCA1 or BRCA2 mutations. Issue 5 (12th March 2018)

Authors:
Rebbeck, Timothy R.; Friebel, Tara M.; Friedman, Eitan; Hamann, Ute; Huo, Dezheng; Kwong, Ava; Olah, Edith; Olopade, Olufunmilayo I.; Solano, Angela R.; Teo, Soo‐Hwang; Thomassen, Mads; Weitzel, Jeffrey N.; Chan, TL; Couch, Fergus J.; Goldgar, David E.; Kruse, Torben A.; Palmero, Edenir Inêz; Par...
Journal:
Human mutation
Issue:
Volume 39:Issue 5(2018)
Page Start:
593
Record Type:
Journal Article
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12. SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing. Issue 12 (20th November 2022)

Authors:
Leman, Raphaël; Parfait, Béatrice; Vidaud, Dominique; Girodon, Emmanuelle; Pacot, Laurence; Le Gac, Gérald; Ka, Chandran; Ferec, Claude; Fichou, Yann; Quesnelle, Céline; Aucouturier, Camille; Muller, Etienne; Vaur, Dominique; Castera, Laurent; Boulouard, Flavie; Ricou, Agathe; Tubeuf, Hélène; Sou...
Journal:
Human mutation
Issue:
Volume 43:Issue 12(2022)
Page Start:
2308
Record Type:
Journal Article
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13. The BRCA2 c.68‐7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity. Issue 5 (6th April 2018)

Authors:
Colombo, Mara; Lòpez‐Perolio, Irene; Meeks, Huong D.; Caleca, Laura; Parsons, Michael T.; Li, Hongyan; De Vecchi, Giovanna; Tudini, Emma; Foglia, Claudia; Mondini, Patrizia; Manoukian, Siranoush; Behar, Raquel; Garcia, Encarna B. Gómez; Meindl, Alfons; Montagna, Marco; Niederacher, Dieter; Schmid...
Journal:
Human mutation
Issue:
Volume 39:Issue 5(2018)
Page Start:
729
Record Type:
Journal Article
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14. The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries. Issue 11 (26th July 2019)

Authors:
Laitman, Yael; Friebel, Tara M.; Yannoukakos, Drakoulis; Fostira, Florentia; Konstantopoulou, Irene; Figlioli, Gisella; Bonanni, Bernardo; Manoukian, Siranoush; Zuradelli, Monica; Tondini, Carlo; Pasini, Barbara; Peterlongo, Paolo; Plaseska‐Karanfilska, Dijana; Jakimovska, Milena; Majidzadeh, Kei...
Journal:
Human mutation
Issue:
Volume 40:Issue 11(2019)
Page Start:
e1
Record Type:
Journal Article
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15. TRACEBACK: Testing of Historical Tubo-Ovarian Cancer Patients for Hereditary Risk Genes as a Cancer Prevention Strategy in Family Members. Issue 18 (20th June 2022)

Authors:
Delahunty, Rachel; Nguyen, Linh; Craig, Stuart; Creighton, Belinda; Ariyaratne, Dinuka; Garsed, Dale W.; Christie, Elizabeth; Fereday, Sian; Andrews, Lesley; Lewis, Alexandra; Limb, Sharne; Pandey, Ahwan; Hendley, Joy; Traficante, Nadia; Carvajal, Natalia; Spurdle, Amanda B.; Thompson, Bryony; Pa...
Journal:
Journal of clinical oncology
Issue:
Volume 40:Issue 18(2022)
Page Start:
2036
Record Type:
Journal Article
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16. Transcriptome‐wide association study of breast cancer risk by estrogen‐receptor status. Issue 5 (1st March 2020)

Authors:
Feng, Helian; Gusev, Alexander; Pasaniuc, Bogdan; Wu, Lang; Long, Jirong; Abu‐full, Zomoroda; Aittomäki, Kristiina; Andrulis, Irene L.; Anton‐Culver, Hoda; Antoniou, Antonis C.; Arason, Adalgeir; Arndt, Volker; Aronson, Kristan J.; Arun, Banu K.; Asseryanis, Ella; Auer, Paul L.; Azzollini, Jacopo...
Journal:
Genetic epidemiology
Issue:
Volume 44:Issue 5(2020)
Page Start:
442
Record Type:
Journal Article
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