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Author/Creator Whiley, Phillip

1. BRCA1 and BRCA2 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding. Issue 12 (24th September 2018)

Authors:
Burke, Leslie J.; Sevcik, Jan; Gambino, Gaetana; Tudini, Emma; Mucaki, Eliseos J.; Shirley, Ben C.; Whiley, Phillip; Parsons, Michael T.; De Leeneer, Kim; Gutiérrez‐Enríquez, Sara; Santamariña, Marta; Caputo, Sandrine M.; Santana dos Santos, Elizabeth; Soukupova, Jana; Janatova, Marketa; Zemankov...
Journal:
Human mutation
Issue:
Volume 39:Issue 12(2018)
Page Start:
2025
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. BRCA1 Circos: a visualisation resource for functional analysis of missense variants. Issue 4 (2nd February 2015)

Authors:
Jhuraney, Ankita; Velkova, Aneliya; Johnson, Randall C; Kessing, Bailey; Carvalho, Renato S; Whiley, Phillip; Spurdle, Amanda B; Vreeswijk, Maaike P G; Caputo, Sandrine M; Millot, Gael A; Vega, Ana; Coquelle, Nicolas; Galli, Alvaro; Eccles, Diana; Blok, Marinus J; Pal, Tuya; van der Luijt, Rob B;...
Journal:
Journal of medical genetics
Issue:
Volume 52:Issue 4(2015)
Page Start:
224
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples. Issue 8 (8th April 2016)

Authors:
Fackenthal, James D; Yoshimatsu, Toshio; Zhang, Bifeng; de Garibay, Gorka R; Colombo, Mara; De Vecchi, Giovanna; Ayoub, Samantha C; Lal, Kumar; Olopade, Olufunmilayo I; Vega, Ana; Santamariña, Marta; Blanco, Ana; Wappenschmidt, Barbara; Becker, Alexandra; Houdayer, Claude; Walker, Logan C; López-...
Journal:
Journal of medical genetics
Issue:
Volume 53:Issue 8(2016)
Page Start:
548
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗