Search

Author/Creator Caputo, Sandrine M

1. 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
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study. (12th October 2018)

Authors:
Qian, Frank; Wang, Shengfeng; Mitchell, Jonathan; McGuffog, Lesley; Barrowdale, Daniel; Leslie, Goska; Oosterwijk, Jan C; Chung, Wendy K; Evans, D Gareth; Engel, Christoph; Kast, Karin; Aalfs, Cora M; Adank, Muriel A; Adlard, Julian; Agnarsson, Bjarni A; Aittomäki, Kristiina; Alducci, Elisa; Andr...
Journal:
Journal of the National Cancer Institute
Issue:
Volume 111:Number 4(2019)
Page Start:
350
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort. Issue 15 (10th May 2018)

Authors:
Leman, Raphaël; Gaildrat, Pascaline; Gac, Gérald L; Ka, Chandran; Fichou, Yann; Audrezet, Marie-Pierre; Caux-Moncoutier, Virginie; Caputo, Sandrine M; Boutry-Kryza, Nadia; Léone, Mélanie; Mazoyer, Sylvie; Bonnet-Dorion, Françoise; Sevenet, Nicolas; Guillaud-Bataille, Marine; Rouleau, Etienne; Bre...
Journal:
Nucleic acids research
Issue:
Volume 46:Issue 15(2018)
Page Start:
7913
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort. Issue 15 (10th May 2018)

Authors:
Leman, Raphaël; Gaildrat, Pascaline; Le Gac, Gérald; Ka, Chandran; Fichou, Yann; Audrezet, Marie-Pierre; Caux-Moncoutier, Virginie; Caputo, Sandrine M; Boutry-Kryza, Nadia; Léone, Mélanie; Mazoyer, Sylvie; Bonnet-Dorion, Françoise; Sevenet, Nicolas; Guillaud-Bataille, Marine; Rouleau, Etienn...
Journal:
Nucleic acids research
Issue:
Volume 46:Issue 15(2018)
Page Start:
7913
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort. Issue 21 (13th October 2018)

Authors:
Leman, Raphaël; Gaildrat, Pascaline; Gac, Gérald L; Ka, Chandran; Fichou, Yann; Audrezet, Marie-Pierre; Caux-Moncoutier, Virginie; Caputo, Sandrine M; Boutry-Kryza, Nadia; Léone, Mélanie; Mazoyer, Sylvie; Bonnet-Dorion, Françoise; Sevenet, Nicolas; Guillaud-Bataille, Marine; Rouleau, Etienne; Pai...
Journal:
Nucleic acids research
Issue:
Volume 46:Issue 21(2018)
Page Start:
11656
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort. Issue 3 (21st December 2019)

Authors:
Leman, Raphaël; Gaildrat, Pascaline; Le Gac, Gérald; Ka, Chandran; Fichou, Yann; Audrezet, Marie-Pierre; Caux-Moncoutier, Virginie; Caputo, Sandrine M; Boutry-Kryza, Nadia; Léone, Mélanie; Mazoyer, Sylvie; Bonnet-Dorion, Françoise; Sevenet, Nicolas; Guillaud-Bataille, Marine; Rouleau, Etienn...
Journal:
Nucleic acids research
Issue:
Volume 48:Issue 3(2020)
Page Start:
1600
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium. Issue 1 (10th May 2017)

Authors:
Moghadasi, Setareh; Meeks, Huong D; Vreeswijk, Maaike PG; Janssen, Linda AM; Borg, Åke; Ehrencrona, Hans; Paulsson-Karlsson, Ylva; Wappenschmidt, Barbara; Engel, Christoph; Gehrig, Andrea; Arnold, Norbert; Hansen, Thomas Van Overeem; Thomassen, Mads; Jensen, Uffe Birk; Kruse, Torben A; Ejlertsen,...
Journal:
Journal of medical genetics
Issue:
Volume 55:Issue 1(2018)
Page Start:
15
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗