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The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 01/2019, Volume 143, Issue 1, pp. 325 - 334.e2
Journal Article
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, ISSN 0091-6749, 01/2019, Volume 143, Issue 1, pp. 325 - 325
Background: V(D)J recombination ensures the diversity of the adaptive immune system. Although its complete defect causes severe combined immunodeficiency (ie,... 
REPERTOIRE | ALLERGY | next-generation sequencing | V(D)J recombination | ataxia telangiectasia | DNA-LIGASE IV | MECHANISMS | IMMUNOLOGY | DNA repair | Primary immunodeficiency | T-cell receptor alpha repertoire
Journal Article
by Bojesen, Stig E and Pooley, Karen A and Johnatty, Sharon E and Beesley, Jonathan and Michailidou, Kyriaki and Tyrer, Jonathan P and Edwards, Stacey L and Pickett, Hilda A and Shen, Howard C and Smart, Chanel E and Hillman, Kristine M and Mai, Phuong L and Lawrenson, Kate and Stutz, Michael D and Lu, Yi and Karevan, Rod and Woods, Nicholas and Johnston, Rebecca L and French, Juliet D and Chen, Xiaoqing and Weischer, Maren and Nielsen, Sune F and Maranian, Melanie J and Ghoussaini, Maya and Ahmed, Shahana and Baynes, Caroline and Bolla, Manjeet K and Wang, Qin and Dennis, Joe and McGuffog, Lesley and Barrowdale, Daniel and Lee, Anew and Healey, Sue and Lush, Michael and Tessier, Daniel C and Vincent, Daniel and Bacot, Françis and Vergote, Ignace and Lambrechts, Sanina and Despierre, Evelyn and Risch, Harvey A and González-Neira, Anna and Rossing, Mary Anne and Pita, Guillermo and Doherty, Jennifer A and Alvarez, Nuria and Larson, Melissa C and Fridley, Brooke L and Schoof, Nils and Chang-Claude, Jenny and Cicek, Mine S and Peto, Julian and Kalli, Kimberly R and Broeks, Annegien and Armasu, Sebastian M and Schmidt, Marjanka K and Braaf, Linde M and Winterhoff, Boris and Nevanlinna, Heli and Konecny, Gottfried E and Lambrechts, Diether and Rogmann, Lisa and Guénel, Pascal and Teoman, Attila and Milne, Roger L and Garcia, Joaquin J and Cox, Angela and Shridhar, Vijayalakshmi and Burwinkel, Barbara and Marme, Frederik and Hein, Rebecca and Sawyer, Elinor J and Haiman, Christopher A and Wang-Gohrke, Shan and Anulis, Irene L and Moysich, Kirsten B and Hopper, John L and Odunsi, Kunle and Lindblom, Annika and Giles, Graham G and Brenner, Hermann and Simard, Jacques and Lurie, Galina and Fasching, Peter A and Carney, Michael E and Radice, Paolo and Wilkens, Lynne R and Swerdlow, Anthony and Goodman, Marc T and Brauch, Hiltrud and Garcia-Closas, Montserrat and Hillemanns, Peter and Winqvist, Robert and Dürst, Matthias and Devilee, Peter and Runnebaum, Ingo and Jakubowska, Anna and Lubinski, Jan and Mannermaa, Arto and Butzow, Ralf and ... and Gene Environm Interactimi Breast and Kathleen Cuningham Fdn Consortium and Australian Ovarian Canc Study and Epidemiological Study BRCA1 and Hereditary Breast Ovarian Canc Res and Genetic Modifiers Canc Risk BRCA1 and Australian Canc Study and Swedish Breast Canc Study SWE-BRCA and The Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON) and Genetic Modifiers of Cancer Risk in BRCA1/2 Mutation Carriers (GEMO) and Gene Environment Interaction and Breast Cancer (GENICA) and Swedish Breast Cancer Study (SWE-BRCA) and Epidemiological study of BRCA1 & BRCA2 Mutation Carriers (EMBRACE) and Australian Ovarian Cancer Study and Australian Cancer Study and Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab) and Medicinska fakulteten and Umeå universitet and Institutionen för strålningsvetenskaper
Nature genetics, ISSN 1061-4036, 2013, Volume 45, Issue 4, pp. 371 - 384
Journal Article
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 Milne, Roger L and Kuchenbaecker, Karoline B and Michailidou, Kyriaki and Beesley, Jonathan and Kar, Siddhartha and Lindström, Sara and Hui, Shirley and Lemaçon, Auey and Soucy, Penny and Dennis, Joe and Jiang, Xia and Rostamianfar, Asha and Finucane, Hilary and Bolla, Manjeet K and McGuffog, Lesley and Wang, Qin and Aalfs, Cora M and Adams, Marcia and Adlard, Julian and Agata, Simona and Ahmed, Shahana and Ahsan, Habibul and Aittomäki, Kristiina and Al-Ejeh, Fares and Allen, Jamie and Ambrosone, Christine B and Amos, Christopher I and Anulis, Irene L and Anton-Culver, Hoda and Antonenkova, Natalia N and Arndt, Volker and Arnold, Norbert and Aronson, Kristan J and Auber, Bernd and Auer, Paul L and Ausems, Margreet G. E. M and Azzollini, Jacopo and Bacot, François and Balmaña, Judith and Barile, Monica and Barjhoux, Laure and Barkardottir, Rosa B and Barrdahl, Myrto and Barnes, Daniel and Barrowdale, Daniel and Baynes, Caroline and Beckmann, Matthias W and Benitez, Javier and Bermisheva, Marina and Bernstein, Leslie and Bignon, Yves-Jean and Blazer, Kathleen R and Blok, Marinus J and Blomqvist, Carl and Blot, William and Bobolis, Kristie and Boeckx, Bram and Bogdanova, Natalia V and Bojesen, Anders and Bojesen, Stig E and Bonanni, Bernardo and Børresen-Dale, Anne-Lise and Bozsik, Aniko and Bradbury, Angela R and Brand, Judith S and Brauch, Hiltrud and Brenner, Hermann and Bressac-de Paillerets, Brigitte and Brewer, Carole and Brinton, Louise and Broberg, Per and Brooks-Wilson, Angela and Brunet, Joan and Brüning, Thomas and Burwinkel, Barbara and Buys, Sauna S and Byun, Jinyoung and Cai, Qiuyin and Caldés, Trinidad and Caligo, Maria A and Campbell, Ian and Canzian, Federico and Caron, Olivier and Carracedo, Angel and Carter, Brian D and Castelao, J. Esteban and Castera, Laurent and Caux-Moncoutier, Virginie and Chan, Salina B and Chang-Claude, Jenny and Chanock, Stephen J and Chen, Xiaoqing and Cheng, Ting-Yuan David and Chiquette, Jocelyne and Christiansen, Hans and Claes, Kathleen B. M and Clarke, Christine L and Conner, Thomas and Conroy, Don M and Cook, Jackie and ... and ABCTB Investigators and HEBON and EMBRACE and GEMO Study Collaborators and kConFab AOCS Investigators and NBSC Collaborators and kConFab/AOCS Investigators and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för immunologi, genetik och patologi and Medicinsk genetik och genomik and Ortopedi and Uppsala universitet and Institutionen för kirurgiska vetenskaper
Nature genetics, ISSN 1061-4036, 2017, Volume 49, Issue 12, pp. 1767 - 1778
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
by Antoniou, Antonis C and Wang, Xianshu and Fredericksen, Zachary S and McGuffog, Lesley and Tarrell, Robert and Sinilnikova, Olga M and Healey, Sue and Morrison, Jonathan and Kartsonaki, Christiana and Lesnick, Timothy and Ghoussaini, Maya and Barrowdale, Daniel and Peock, Susan and Cook, Margaret and Oliver, Clare and Frost, Debra and Eccles, Diana and Evans, D. Gareth and Eeles, Ros and Izatt, Louise and Chu, Carol and Douglas, Fiona and Paterson, Joan and Stoppa-Lyonnet, Dominique and Houdayer, Claude and Mazoyer, Sylvie and Giraud, Sophie and Lasset, Christine and Remenieras, Auey and Caron, Olivier and Hardouin, Agnès and Berthet, Pascaline and Hogervorst, Frans B. L and Rookus, Matti A and Jager, Agnes and van den Ouweland, Ans and Hoogerbrugge, Nicoline and van der Luijt, Rob B and Meijers-Heijboer, Hanne and Gómez García, Encarna B and Devilee, Peter and Vreeswijk, Maaike P. G and Lubinski, Jan and Jakubowska, Anna and Gronwald, Jacek and Huzarski, Tomasz and Byrski, Tomasz and Górski, Bohdan and Cybulski, Cezary and Spurdle, Amanda B and Holland, Helene and Goldgar, David E and John, Esther M and Hopper, John L and Southey, Melissa and Buys, Sauna S and Daly, Mary B and Terry, Mary-Beth and Schmutzler, Rita K and Wappenschmidt, Barbara and Engel, Christoph and Meindl, Alfons and Preisler-Adams, Sabine and Arnold, Norbert and Niederacher, Dieter and Sutter, Christian and Domchek, Susan M and Nathanson, Katherine L and Rebbeck, Timothy and Blum, Joanne L and Piedmonte, Marion and Roiguez, Gustavo C and Wakeley, Katie and Boggess, John F and Basil, Jack and Blank, Stephanie V and Friedman, Eitan and Kaufman, Bella and Laitman, Yael and Milgrom, Roni and Anulis, Irene L and Glendon, Gord and Ozcelik, Hilmi and Kirchhoff, Tomas and Vijai, Joseph and Gaudet, Mia M and Altshuler, David and Guiducci, Candace and Loman, Niklas and Harbst, Katja and Rantala, Johanna and Ehrencrona, Hans and Gerdes, Anne-Marie and Thomassen, Mads and Sunde, Lone and Peterlongo, Paolo and Manoukian, Siranoush and Bonanni, Bernardo and Viel, Alessana and Radice, Paolo and ... and KConFab and EMBRACE and GEMO Study Collaborators and GENICA and MOD SQUAD and HEBON and SWE-BRCA and kConFab and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för genetik och patologi and Uppsala universitet
Nature genetics, ISSN 1061-4036, 2010, Volume 42, Issue 10, pp. 885 - 892
Journal Article
by Granzotto, Adeline, BSc and Benadjaoud, Mohamed Amine, PhD and Vogin, Guillaume, MD, PhD and Devic, Clément, MSc and Ferlazzo, Mélanie L., MSc and Bodgi, Larry, PhD and Pereira, Sandrine, PhD and Sonzogni, Laurène, BSc and Forcheron, Fabien, PhD and Viau, Muriel, PhD and Etaix, Aurélie, PharmaD and Malek, Karim, MD, PhD and Mengue-Bindjeme, Laurence, MD, MSc and Escoffier, Clémence, MSc and Rouvet, Isabelle, PharmD, PhD and Zabot, Marie-Thérèse, PhD and Joubert, Aurélie, PhD and Vincent, Anne, PhD and Venezia, Nicole Dalla, PhD and Bourguignon, Michel, MD, PhD and Canat, Edme-Philippe, MD and d'Hombres, Anne, MD and Thébaud, Estelle, MD and Orbach, Daniel, MD and Stoppa-Lyonnet, Dominique, MD, PhD and Radji, Abderraouf, MD and Doré, Eric, MD and Pointreau, Yoann, MD and Bourgier, Céline, MD, PhD and Leblond, Pierre, MD, PhD and Defachelles, Anne-Sophie, MD and Lervat, Cyril, MD and Guey, Stéphanie, MD and Feuvret, Loic, MD and Gilsoul, Françoise, MD and Berger, Claire, MD and Moncharmont, Coralie, MD and de Laroche, Guy, MD and Moreau-Claeys, Marie-Virginie, MD and Chavaudra, Nicole, PhD and Combemale, Patrick, MD and Biston, Marie-Claude, PhD and Malet, Claude, PhD and Martel-Lafay, Isabelle, MD and Laude, Cécile, MD and Hau-Desbat, Ngoc-Hanh, MD and Ziouéche, Amira, MD and Tanguy, Ronan, MD and Sunyach, Marie-Pierre, MD and Racadot, Séverine, MD and Pommier, Pascal, MD, PhD and Claude, Line, MD and Baleydier, Frédéric, MD, PhD and Fleury, Bertrand, MD and de Crevoisier, Renaud, MD, PhD and Simon, Jean-Marc, MD, PhD and Verrelle, Pierre, MD, PhD and Peiffert, Didier, MD, PhD and Belkacemi, Yazid, MD, PhD and Bourhis, Jean, MD, PhD and Lartigau, Eric, MD, PhD and Carrie, Christian, MD and De Vathaire, Florent, PhD and Eschwege, François, MD, PhD and Puisieux, Alain, PharmD, PhD and Lagrange, Jean-Léon, MD, PhD and Balosso, Jacques, MD, PhD and Foray, Nicolas, PhD and COPERNIC Project Investigators and COPERNIC project investigators
International Journal of Radiation Oncology, Biology, Physics, ISSN 0360-3016, 2016, Volume 94, Issue 3, pp. 450 - 460
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2011, Volume 128, Issue 2, pp. 382 - 389.e1
Journal Article