Standard
Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms. / de la Hoya, Miguel; Soukarieh, Omar; López-perolio, Irene; Vega, Ana; Walker, Logan C; Van Ierland, Yvette; Baralle, Diana; Santamariña, Marta; Lattimore, Vanessa; Wijnen, Juul; Whiley, Philip; Blanco, Ana; Raponi, Michela; Hauke, Jan; Wappenschmidt, Barbara; Becker, Alexandra; Hansen, Thomas v O; Behar, Raquel; Investigators, Kconfab; Niederacher, Diether; Arnold, Norbert; Dworniczak, Bernd; Steinemann, Doris; Faust, Ulrike; Rubinstein, Wendy; Hulick, Peter J; Houdayer, Claude; Caputo, Sandrine M.; Castera, Laurent; Pesaran, Tina; Chao, Elizabeth; Brewer, Carole; Southey, Melissa C; van Asperen, Christi J; Singer, Christian F; Sullivan, Jan; Poplawski, Nicola; Mai, Phuong L; Peto, Julian; Johnson, Nichola; Burwinkel, Barbara; Surowy, Harald M; Bojesen, Stig E.; Flyger, Henrik; Lindblom, Annika; Margolin, Sara; Chang-Claude, Jenny; Rudolph, Anja; Radice, Paolo; Galastri, Laura; Olson, Janet E; Hallberg, Emily; Giles, Graham; Milne, Roger L; Andrulis, Irene L; Glendon, Gord; Hall, Per; Czene, Kamila; Blows, Fiona; Shah, Mitul; Wang, Qin; Dennis, Joe; Michailidou, Kyriaki; McGuffog, Lesley; Bolla, Manjeet K; Antoniou, Antonis C; Easton, Douglas F; Couch, Fergus J; Tavtigian, Sean; Vreeswijk, Maaike P; Parsons, Michael; Meeks, Huong D; Martins, Alexandra; Goldgar, David E; Spurdle, Amanda B.
In:
Human Molecular Genetics, Vol. 25, No. 11, 2016, p. 2256-2268.
Research output: Contribution to journal › Journal article › peer-review
Harvard
de la Hoya, M, Soukarieh, O, López-perolio, I, Vega, A, Walker, LC, Van Ierland, Y, Baralle, D, Santamariña, M, Lattimore, V, Wijnen, J, Whiley, P, Blanco, A, Raponi, M, Hauke, J, Wappenschmidt, B, Becker, A, Hansen, TVO, Behar, R, Investigators, K, Niederacher, D, Arnold, N, Dworniczak, B, Steinemann, D, Faust, U, Rubinstein, W, Hulick, PJ, Houdayer, C, Caputo, SM, Castera, L, Pesaran, T, Chao, E, Brewer, C, Southey, MC, van Asperen, CJ, Singer, CF, Sullivan, J, Poplawski, N, Mai, PL, Peto, J, Johnson, N, Burwinkel, B, Surowy, HM
, Bojesen, SE, Flyger, H, Lindblom, A, Margolin, S, Chang-Claude, J, Rudolph, A, Radice, P, Galastri, L, Olson, JE, Hallberg, E, Giles, G, Milne, RL, Andrulis, IL, Glendon, G, Hall, P, Czene, K, Blows, F, Shah, M, Wang, Q, Dennis, J, Michailidou, K, McGuffog, L, Bolla, MK, Antoniou, AC, Easton, DF, Couch, FJ, Tavtigian, S, Vreeswijk, MP, Parsons, M, Meeks, HD, Martins, A, Goldgar, DE & Spurdle, AB 2016, '
Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms',
Human Molecular Genetics, vol. 25, no. 11, pp. 2256-2268.
https://doi.org/10.1093/hmg/ddw094
APA
de la Hoya, M., Soukarieh, O., López-perolio, I., Vega, A., Walker, L. C., Van Ierland, Y., Baralle, D., Santamariña, M., Lattimore, V., Wijnen, J., Whiley, P., Blanco, A., Raponi, M., Hauke, J., Wappenschmidt, B., Becker, A., Hansen, T. V. O., Behar, R., Investigators, K., ... Spurdle, A. B. (2016).
Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
Human Molecular Genetics,
25(11), 2256-2268.
https://doi.org/10.1093/hmg/ddw094
Vancouver
de la Hoya M, Soukarieh O, López-perolio I, Vega A, Walker LC, Van Ierland Y et al.
Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
Human Molecular Genetics. 2016;25(11):2256-2268.
https://doi.org/10.1093/hmg/ddw094
Author
de la Hoya, Miguel ; Soukarieh, Omar ; López-perolio, Irene ; Vega, Ana ; Walker, Logan C ; Van Ierland, Yvette ; Baralle, Diana ; Santamariña, Marta ; Lattimore, Vanessa ; Wijnen, Juul ; Whiley, Philip ; Blanco, Ana ; Raponi, Michela ; Hauke, Jan ; Wappenschmidt, Barbara ; Becker, Alexandra ; Hansen, Thomas v O ; Behar, Raquel ; Investigators, Kconfab ; Niederacher, Diether ; Arnold, Norbert ; Dworniczak, Bernd ; Steinemann, Doris ; Faust, Ulrike ; Rubinstein, Wendy ; Hulick, Peter J ; Houdayer, Claude ; Caputo, Sandrine M. ; Castera, Laurent ; Pesaran, Tina ; Chao, Elizabeth ; Brewer, Carole ; Southey, Melissa C ; van Asperen, Christi J ; Singer, Christian F ; Sullivan, Jan ; Poplawski, Nicola ; Mai, Phuong L ; Peto, Julian ; Johnson, Nichola ; Burwinkel, Barbara ; Surowy, Harald M ; Bojesen, Stig E. ; Flyger, Henrik ; Lindblom, Annika ; Margolin, Sara ; Chang-Claude, Jenny ; Rudolph, Anja ; Radice, Paolo ; Galastri, Laura ; Olson, Janet E ; Hallberg, Emily ; Giles, Graham ; Milne, Roger L ; Andrulis, Irene L ; Glendon, Gord ; Hall, Per ; Czene, Kamila ; Blows, Fiona ; Shah, Mitul ; Wang, Qin ; Dennis, Joe ; Michailidou, Kyriaki ; McGuffog, Lesley ; Bolla, Manjeet K ; Antoniou, Antonis C ; Easton, Douglas F ; Couch, Fergus J ; Tavtigian, Sean ; Vreeswijk, Maaike P ; Parsons, Michael ; Meeks, Huong D ; Martins, Alexandra ; Goldgar, David E ; Spurdle, Amanda B. / Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms. In: Human Molecular Genetics. 2016 ; Vol. 25, No. 11. pp. 2256-2268.
Bibtex
@article{f9c35af8f7724c3e84278f5be52900f5,
title = "Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms",
author = "{de la Hoya}, Miguel and Omar Soukarieh and Irene L{\'o}pez-perolio and Ana Vega and Walker, {Logan C} and {Van Ierland}, Yvette and Diana Baralle and Marta Santamari{\~n}a and Vanessa Lattimore and Juul Wijnen and Philip Whiley and Ana Blanco and Michela Raponi and Jan Hauke and Barbara Wappenschmidt and Alexandra Becker and Hansen, {Thomas v O} and Raquel Behar and Kconfab Investigators and Diether Niederacher and Norbert Arnold and Bernd Dworniczak and Doris Steinemann and Ulrike Faust and Wendy Rubinstein and Hulick, {Peter J} and Claude Houdayer and Caputo, {Sandrine M.} and Laurent Castera and Tina Pesaran and Elizabeth Chao and Carole Brewer and Southey, {Melissa C} and {van Asperen}, {Christi J} and Singer, {Christian F} and Jan Sullivan and Nicola Poplawski and Mai, {Phuong L} and Julian Peto and Nichola Johnson and Barbara Burwinkel and Surowy, {Harald M} and Bojesen, {Stig E.} and Henrik Flyger and Annika Lindblom and Sara Margolin and Jenny Chang-Claude and Anja Rudolph and Paolo Radice and Laura Galastri and Olson, {Janet E} and Emily Hallberg and Graham Giles and Milne, {Roger L} and Andrulis, {Irene L} and Gord Glendon and Per Hall and Kamila Czene and Fiona Blows and Mitul Shah and Qin Wang and Joe Dennis and Kyriaki Michailidou and Lesley McGuffog and Bolla, {Manjeet K} and Antoniou, {Antonis C} and Easton, {Douglas F} and Couch, {Fergus J} and Sean Tavtigian and Vreeswijk, {Maaike P} and Michael Parsons and Meeks, {Huong D} and Alexandra Martins and Goldgar, {David E} and Spurdle, {Amanda B}",
year = "2016",
doi = "10.1093/hmg/ddw094",
language = "English",
volume = "25",
pages = "2256--2268",
journal = "Human Molecular Genetics",
issn = "0964-6906",
publisher = "Oxford University Press",
number = "11",
}
RIS
TY - JOUR
T1 - Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms
AU - de la Hoya, Miguel
AU - Soukarieh, Omar
AU - López-perolio, Irene
AU - Vega, Ana
AU - Walker, Logan C
AU - Van Ierland, Yvette
AU - Baralle, Diana
AU - Santamariña, Marta
AU - Lattimore, Vanessa
AU - Wijnen, Juul
AU - Whiley, Philip
AU - Blanco, Ana
AU - Raponi, Michela
AU - Hauke, Jan
AU - Wappenschmidt, Barbara
AU - Becker, Alexandra
AU - Hansen, Thomas v O
AU - Behar, Raquel
AU - Investigators, Kconfab
AU - Niederacher, Diether
AU - Arnold, Norbert
AU - Dworniczak, Bernd
AU - Steinemann, Doris
AU - Faust, Ulrike
AU - Rubinstein, Wendy
AU - Hulick, Peter J
AU - Houdayer, Claude
AU - Caputo, Sandrine M.
AU - Castera, Laurent
AU - Pesaran, Tina
AU - Chao, Elizabeth
AU - Brewer, Carole
AU - Southey, Melissa C
AU - van Asperen, Christi J
AU - Singer, Christian F
AU - Sullivan, Jan
AU - Poplawski, Nicola
AU - Mai, Phuong L
AU - Peto, Julian
AU - Johnson, Nichola
AU - Burwinkel, Barbara
AU - Surowy, Harald M
AU - Bojesen, Stig E.
AU - Flyger, Henrik
AU - Lindblom, Annika
AU - Margolin, Sara
AU - Chang-Claude, Jenny
AU - Rudolph, Anja
AU - Radice, Paolo
AU - Galastri, Laura
AU - Olson, Janet E
AU - Hallberg, Emily
AU - Giles, Graham
AU - Milne, Roger L
AU - Andrulis, Irene L
AU - Glendon, Gord
AU - Hall, Per
AU - Czene, Kamila
AU - Blows, Fiona
AU - Shah, Mitul
AU - Wang, Qin
AU - Dennis, Joe
AU - Michailidou, Kyriaki
AU - McGuffog, Lesley
AU - Bolla, Manjeet K
AU - Antoniou, Antonis C
AU - Easton, Douglas F
AU - Couch, Fergus J
AU - Tavtigian, Sean
AU - Vreeswijk, Maaike P
AU - Parsons, Michael
AU - Meeks, Huong D
AU - Martins, Alexandra
AU - Goldgar, David E
AU - Spurdle, Amanda B
PY - 2016
Y1 - 2016
U2 - 10.1093/hmg/ddw094
DO - 10.1093/hmg/ddw094
M3 - Journal article
C2 - 27008870
VL - 25
SP - 2256
EP - 2268
JO - Human Molecular Genetics
JF - Human Molecular Genetics
SN - 0964-6906
IS - 11
ER -