Not logged in Macrocephaly and developmental delay caused by missense variants in RAB5C Koop, Klaas; Yuan, Weimin; Tessadori, Federico; Rodriguez-Polanco, Wilmer R.; Grubbs, Jeremy; Zhang, Bo; Osmond, Matt; Graham, Gail; Sawyer, Sarah; Conboy, Erin; Vetrini, Francesco; Treat, Kayla; Ploski, Rafal; Pienkowski, Victor Murcia; Klosowska, Anna; Fieg, Elizabeth; Krier, Joel; Mallebranche, Coralie; Alban, Ziegler; Aldinger, Kimberly A.; Ritter, Deborah; Macnamara, Ellen; Sullivan, Bonnie; Herriges, John; Alaimo, Joseph T.; Helbig, Catherine; Ellis, Colin A.; van Eyk, Clare; Gecz, Jozef; Farrugia, Daniel; Osei-Owusu, Ikeoluwa; Ades, Lesley; van den Boogaard, Marie-Jose; Fuchs, Sabine; Bakker, Jeroen; Duran, Karen; Dawson, Zachary D.; Lindsey, Anika; Huang, Huiyan; Baldridge, Dustin; Silverman, Gary A.; Grant, Barth D.; Raizen, David; van Haaften, Gijs; Pak, Stephen C.; Rehmann, Holger; Schedl, Tim; van Hasselt, Peter Share Save
Magee Equation 3 predicts pathologic response to neoadjuvant systemic chemotherapy in estrogen receptor positive, HER2 negative/equivocal breast tumors Farrugia, Daniel J.; Landmann, Alessandra; Zhu, Li; Diego, Emilia J.; Johnson, Ronald R.; Bonaventura, Marguerite; Soran, Atilla; Dabbs, David J.; Clark, Beth Z.; Puhalla, Shannon L.; Jankowitz, Rachel C.; Brufsky, Adam M.; Lembersky, Barry C.; Ahrendt, Gretchen M.; McAuliffe, Priscilla F.; Bhargava, Rohit Share Save
Detection of Splicing Aberrations Caused by BRCA1 and BRCA2 Sequence Variants Encoding Missense Substitutions: Implications for Prediction of Pathogenicity Walker, Logan C.; Whiley, Phillip J.; Couch, Fergus J.; Farrugia, Daniel J.; Healey, Sue; Eccles, Diana M.; Lin, Feng; Butler, Samantha A.; Goff, Sheila A.; Thompson, Bryony A.; Lakhani, Sunil R.; Da Silva, Leonard M.; Tavtigian, Sean V.; Goldgar, David E.; Brown, Melissa A.; Spurdle, Amanda B. Share Save
Functional assays for classification of BRCA2 variants of uncertain significance Farrugia, Daniel J.; Agarwal, Mukesh K.; Pankratz, Vernon S.; Deffenbaugh, Amie M.; Pruss, Dmitry; Frye, Cynthia; Wadum, Linda; Johnson, Kiley; Mentlick, Jennifer; Tavtigian, Sean V.; Goldgar, David E.; Couch, Fergus J. Share Save
Impaired p53 function leads to centrosome amplification, acquired ERα phenotypic heterogeneity and distant metastases in breast cancer MCF-7 xenografts D'Assoro, A. B.; Busby, R.; Acu, I. D.; Quatraro, C.; Reinholz, M. M.; Farrugia, D. J.; Schroeder, M. A.; Allen, C.; Stivala, F.; Galanis, E.; Salisbury, J. L. Share Save
Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants? Lovelock, Paul K.; Spurdle, Amanda B.; Mok, Myth T. S.; Farrugia, Daniel J.; Lakhani, Sunil R.; Healey, Sue; Arnold, Stephen; Buchanan, Daniel; Couch, Fergus J.; Henderson, Beric R.; Goldgar, David E.; Tavtigian, Sean V.; Chenevix-Trench, Georgia; Brown, Melissa A. Share Save
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Genotoxic stress leads to centrosome amplification in breast cancer cell lines that have an inactive G1/S cell cycle checkpoint D'Assoro, AB; Busby, R; Suino, K; Delva, E; Almodovar-Mercado, GJ; Johnson, H; Folk, C; Farrugia, DJ; Vasile, V; Stivala, F; Salisbury, JL Share Save
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