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by Couch, Fergus J and Wang, Xianshu and McGuffog, Lesley and Lee, Anew and Olswold, Curtis and Kuchenbaecker, Karoline B and Soucy, Penny and Fredericksen, Zachary and Barrowdale, Daniel and Dennis, Joe and Gaudet, Mia M and Dicks, Ed and Kosel, Matthew and Healey, Sue and Sinilnikova, Olga M and Lee, Adam and Bacot, François and Vincent, Daniel and Hogervorst, Frans B. L and Peock, Susan and Stoppa-Lyonnet, Dominique and Jakubowska, Anna and Radice, Paolo and Schmutzler, Rita Katharina and Domchek, Susan M and Piedmonte, Marion and Singer, Christian F and Friedman, Eitan and Thomassen, Mads and Hansen, Thomas V. O and Neuhausen, Susan L and Szabo, Csilla I and Blanco, Ignacio and Greene, Mark H and Karlan, Beth Y and Garber, Judy and Phelan, Catherine M and Weitzel, Jeffrey N and Montagna, Marco and Olah, Edith and Anulis, Irene L and Godwin, Anew K and Yannoukakos, koulis and Goldgar, David E and Caldes, Trinidad and Nevanlinna, Heli and Osorio, Ana and Terry, Mary Beth and Daly, Mary B and van Rensburg, Elizabeth J and Hamann, Ute and Ramus, Susan J and Toland, Amanda Ewart and Caligo, Maria A and Olopade, Olufunmilayo I and Tung, Nadine and Claes, Kathleen and Beattie, Mary S and Southey, Melissa C and Imyanitov, Evgeny N and Tischkowitz, Marc and Janavicius, Ramunas and John, Esther M and Kwong, Ava and Diez, Orland and Balmaña, Judith and Barkardottir, Rosa B and Arun, Banu K and Rennert, Gad and teo, Soo-Hwang and Ganz, Patricia A and Campbell, Ian and van der Hout, Annemarie H and van Deurzen, Carolien H. M and Seynaeve, Caroline and Gómez Garcia, Encarna B and van Leeuwen, Flora E and Meijers-Heijboer, Hanne E. J and Gille, Johannes J. P and Ausems, Margreet G. E. M and Blok, Marinus J and Ligtenberg, Marjolijn J. L and Rookus, Matti A and Devilee, Peter and Verhoef, Senno and van Os, Theo A. M and Wijnen, Juul T and Frost, Debra and Ellis, Steve and Fineberg, Elena and Platte, Radka and Evans, D. Gareth and Izatt, Louise and Eeles, Rosalind A and Adlard, Julian and Eccles, Diana M and Cook, Jackie and Brewer, Carole and Douglas, Fiona and Hodgson, Shirley and ... and KConFab Investigators and Ontario Canc Genetics Network and EMBRACE and GEMO Study Collaborators and CIMBA and HEBON and BCFR and SWE-BRCA and Ontario Cancer Genetics Network and kConFab Investigators and on behalf of CIMBA and Linköpings universitet and Institutionen för klinisk och experimentell medicin and Onkologi and Hälsouniversitetet
PLoS genetics, ISSN 1553-7390, 2013, Volume 9, Issue 3, p. e1003212
Journal Article
by Phelan, Catherine M and Kuchenbaecker, Karoline B and Tyrer, Jonathan P and Kar, Siddhartha P and Lawrenson, Kate and Winham, Stacey J and Dennis, Joe and Pirie, Ailith and Riggan, Marjorie J and Chornokur, Ganna and Earp, Madalene A and Lyra, Paulo C and Lee, Janet M and Coetzee, Simon and Beesley, Jonathan and McGuffog, Lesley and Soucy, Penny and Dicks, Ed and Lee, Anew and Barrowdale, Daniel and Lecarpentier, Julie and Leslie, Goska and Aalfs, Cora M and Aben, Katja K. H and Adams, Marcia and Adlard, Julian and Anulis, Irene L and Anton-Culver, Hoda and Antonenkova, Natalia and Aravantinos, Gerasimos and Arnold, Norbert and Arun, Banu K and Arver, Brita and Azzollini, Jacopo and Balmaña, Judith and Banerjee, Susana N and Barjhoux, Laure and Barkardottir, Rosa B and Bean, Yukie and Beckmann, Matthias W and Beeghly-Fadiel, Alicia and Benitez, Javier and Bermisheva, Marina and Bernardini, Marcus Q and Birrer, Michael J and Bjorge, Line and Black, Amanda and Blankstein, Kenneth and Blok, Marinus J and Bodelon, Clara and Bogdanova, Natalia and Bojesen, Anders and Bonanni, Bernardo and Borg, Åke and Bradbury, Angela R and Brenton, James D and Brewer, Carole and Brinton, Louise and Broberg, Per and Brooks-Wilson, Angela and Bruinsma, Fiona and Brunet, Joan and Buecher, Bruno and Butzow, Ralf and Buys, Sauna S and Caldes, Trinidad and Caligo, Maria A and Campbell, Ian and Cannioto, Rikki and Carney, Michael E and Cescon, Terence and Chan, Salina B and Chang-Claude, Jenny and Chanock, Stephen and Chen, Xiao Qing and Chiew, Yoke-Eng and Chiquette, Jocelyne and Chung, Wendy K and Claes, Kathleen B. M and Conner, Thomas and Cook, Linda S and Cook, Jackie and Cramer, Daniel W and Cunningham, Julie M and D'Aloisio, Aimee A and Daly, Mary B and Damiola, Francesca and Damirovna, Sakaeva Dina and Dansonka-Mieszkowska, Agnieszka and Dao, Fanny and Davidson, Rosemarie and Defazio, Anna and Delnatte, Capucine and Doheny, Kimberly F and Diez, Orland and Ding, Yuan Chun and Doherty, Jennifer Anne and Domchek, Susan M and Dorfling, Cecilia M and Dörk, Thilo and ... and KConFab Investigators and EMEMBRACE Study and GEMO Study Collaborators and OPAL Study Grp and AOCS Study Grp and HEBON Study and AOCS study group and EMBRACE Study and OPAL study group and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Ortopedi and Uppsala universitet and Institutionen för kirurgiska vetenskaper
Nature genetics, ISSN 1061-4036, 2017, Volume 49, Issue 5, pp. 680 - 691
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 2011, Volume 34, Issue 3, pp. 677 - 694
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 2013, Volume 36, Issue 6, pp. 923 - 928
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 2011, Volume 34, Issue 1, pp. 159 - 164
Journal Article
PLoS ONE, ISSN 1932-6203, 2010, Volume 5, Issue 5, p. e10635
Journal Article
PLoS ONE, ISSN 1932-6203, 2011, Volume 6, Issue 12, p. e28539
Journal Article
Nature communications, ISSN 2041-1723, 2019, Volume 10, Issue 1, pp. 1477 - 8
Phenotypic and biochemical categorization of humans with detrimental variants can provide valuable information on gene function. We illustrate this with the... 
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