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by Kuchenbaecker, Karoline B and Hopper, John L and Barnes, Daniel R and Phillips, Kelly-Anne and Mooij, Thea M and Roos-Blom, Marie-José and Jervis, Sarah and van Leeuwen, Flora E and Milne, Roger L and Andrieu, Nadine and Goldgar, David E and Terry, Mary Beth and Rookus, Matti A and Easton, Douglas F and Antoniou, Antonis C and McGuffog, Lesley and Evans, D. Gareth and Barrowdale, Daniel and Frost, Debra and Adlard, Julian and Ong, Kai-ren and Izatt, Louise and Tischkowitz, Marc and Eeles, Ros and Davidson, Rosemarie and Hodgson, Shirley and Ellis, Steve and Nogues, Catherine and Lasset, Christine and Stoppa-Lyonnet, Dominique and Fricker, Jean-Pierre and Faivre, Laurence and Berthet, Pascaline and Hooning, Maartje J and van der Kolk, Lizet E and Kets, Carolien M and Adank, Muriel A and John, Esther M and Chung, Wendy K and Andrulis, Irene L and Southey, Melissa and Daly, Mary B and Buys, Saundra S and Osorio, Ana and Engel, Christoph and Kast, Karin and Schmutzler, Rita K and Caldes, Trinidad and Jakubowska, Anna and Simard, Jacques and Friedlander, Michael L and McLachlan, Sue-Anne and Machackova, Eva and Foretova, Lenka and Tan, Yen Y and Singer, Christian F and Olah, Edith and Gerdes, Anne-Marie and Arver, Brita and Olsson, Håkan and BRCA1 BRCA2 Cohort Consortium and BRCA1 and BRCA2 Cohort Consortium and and the BRCA1 and BRCA2 Cohort Consortium and Lunds Melanomstudiegrupp and EpiHealth: Epidemiology for Health and Lund Melanoma Study Group and Lund University and BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation and Lunds universitet
JAMA, ISSN 0098-7484, 06/2017, Volume 317, Issue 23, pp. 2402 - 2416
Journal Article
by McRae, Jeremy F and Clayton, Stephen and Fitzgerald, Tomas W and Kaplanis, Joanna and Prigmore, Elena and Rajan, Diana and Sifrim, Alejandro and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Ambridge, Kirsty and Barrett, Daniel M and Bayzetinova, Tanya and Jones, Philip and Jones, Wendy D and King, Daniel and Krishnappa, Netravathi and Mason, Laura E and Singh, Tarjinder and Tivey, Adrian R and Ahmed, Munaza and Anjum, Uruj and Archer, Hayley and Armstrong, Ruth and Awada, Jana and Balasubramanian, Meena and Banka, Siddharth and Baralle, Diana and Barnicoat, Angela and Batstone, Paul and Baty, David and Bennett, Chris and Berg, Jonathan and Bernhard, Birgitta and Bevan, A. Paul and Bitner-Glindzicz, Maria and Blair, Edward and Blyth, Moira and Bohanna, David and Bourdon, Louise and Bourn, David and Bradley, Lisa and Brady, Angela and Brent, Simon and Brewer, Carole and Brunstrom, Kate and Bunyan, David J and Burn, John and Canham, Natalie and Castle, Bruce and Chandler, Kate and Chatzimichali, Elena and Cilliers, Deirdre and Clarke, Angus and Clasper, Susan and Clayton-Smith, Jill and Clowes, Virginia and Coates, Andrea and Cole, Trevor and Colgiu, Irina and Collins, Amanda and Collinson, Morag N and Connell, Fiona and Cooper, Nicola and Cox, Helen and Cresswell, Lara and Cross, Gareth and Crow, Yanick and D'Alessandro, Mariella and Dabir, Tabib and Davidson, Rosemarie and Davies, Sally and De Vries, Dylan and Dean, John and Deshpande, Charu and Devlin, Gemma and Dixit, Abhijit and Dobbie, Angus and Donaldson, Alan and Donnai, Dian and Donnelly, Deirdre and Donnelly, Carina and Douglas, Angela and Douzgou, Sofia and Duncan, Alexis and Eason, Jacqueline and Ellard, Sian and Ellis, Ian and Elmslie, Frances and Evans, Karenza and Everest, Sarah and Fendick, Tina and Fisher, Richard and Flinter, Frances and Foulds, Nicola and Fry, Andrew and Fryer, Alan and Gardiner, Carol and Gaunt, Lorraine and Ghali, Neeti and ... and Deciphering Developmental Disorders Study
Nature, ISSN 0028-0836, 02/2017, Volume 542, Issue 7642, pp. 433 - 438
The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important... 
INTELLECTUAL DISABILITY | METAANALYSIS | VARIANTS | GENETICS | HEART-DEFECTS | MULTIDISCIPLINARY SCIENCES | GENES | SEQUENCE | FRAMEWORK | DISCOVERY | GENOME | Prevalence | Humans | Middle Aged | Parents | Male | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | Developmental Disabilities - genetics | Casein Kinase II - genetics | Autoantigens - genetics | Young Adult | ras GTPase-Activating Proteins - genetics | Adult | Female | Child | CDC2 Protein Kinase - genetics | Histone-Lysine N-Methyltransferase - genetics | Repressor Proteins - genetics | Sex Characteristics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Nerve Tissue Proteins - genetics | Sequence Analysis, DNA | Homeodomain Proteins - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Phenotype | Myeloid-Lymphoid Leukemia Protein - genetics | Adolescent | Heredity - genetics | Protein Phosphatase 2C - genetics | Cohort Studies | Child development deviations | Genetic aspects | Genetic disorders | Developmental disabilities | Distribution | Genes | Families & family life | Births | Genomes | Mutation | Causality | Estimates | Age | TRIO | MYT1L | EHMT1 | HNRNPU | SUV420H1 | COL4A3BP | SYNGAP1 | PPP2R1A | POGZ | EP300 | KCNH1 | SCN1A | MEF2C | CDKL5 | CSNK2A1 | DYRK1A | CASK | ALG13 | FOXP1 | KAT6B | TBL1XR1 | KAT6A | SCN8A | KCNQ2 | EEF1A2 | KCNQ3 | ADNP | PhenIcons | SET | KMT2A | ANKRD11 | STXBP1 | FOXG1 | ZC4H2 | ITPR1 | De novo mutation | Seizures | ZBTB18 | CREBBP | SMAD4 | PDHA1 | IQSEC2 | AUTS2 | BCL11A | BRAF | SMARCA2 | GRIN2B | MED13L | GNAO1 | CNOT3 | TCF4 | SCN2A | CDK13 | GABRB3 | SETD5 | KDM5B | Developmental Disease | DDX3X | CHD8 | PTEN | CHD4 | TCF20 | CTCF | CHD2 | WDR45 | SLC6A1 | MECP2 | CHAMP1 | KIF1A | Average Faces | MSL3 | PPP2R5D | SMC1A | ARID1B | DNM1 | CNKSR2 | PACS1 | WAC | ZMYND11 | AHDC1 | NFIX | SATB2 | HDAC8 | PPM1D | GNAI1 | PURA | PUF60 | NSD1 | Intellectual Disability | SLC35A2 | DYNC1H1 | NAA10 | USP9X | PTPN11 | GATAD2B | ASXL1 | KANSL1 | ASXL3 | CTNNB1 | QRICH1
Journal Article
by Bancroft, Elizabeth K and Page, Elizabeth C and Castro, Elena and Lilja, Hans and Vickers, Andrew and Sjoberg, Daniel and Assel, Melissa and Foster, Christopher S and Mitchell, Gillian and Drew, Kate and Mæhle, Lovise and Axcrona, Karol and Evans, D. Gareth and Bulman, Barbara and Eccles, Diana and McBride, Donna and van Asperen, Christi and Vasen, Hans and Kiemeney, Lambertus A and Ringelberg, Janneke and Cybulski, Cezary and Wokolorczyk, Dominika and Selkirk, Christina and Hulick, Peter J and Bojesen, Anders and Skytte, Anne-Bine and Lam, Jimmy and Taylor, Louise and Oldenburg, Rogier and Cremers, Ruben and Verhaegh, Gerald and van Zelst-Stams, Wendy A and Oosterwijk, Jan C and Blanco, Ignacio and Salinas, Monica and Cook, Jackie and Rosario, Derek J and Buys, Saundra and Conner, Tom and Ausems, Margreet G and Ong, Kai-ren and Hoffman, Jonathan and Domchek, Susan and Powers, Jacquelyn and Teixeira, Manuel R and Maia, Sofia and Foulkes, William D and Taherian, Nassim and Ruijs, Marielle and den Enden, Apollonia T. Helderman-van and Izatt, Louise and Davidson, Rosemarie and Adank, Muriel A and Walker, Lisa and Schmutzler, Rita and Tucker, Kathy and Kirk, Judy and Hodgson, Shirley and Harris, Marion and Douglas, Fiona and Lindeman, Geoffrey J and Zgajnar, Janez and Tischkowitz, Marc and Clowes, Virginia E and Susman, Rachel and Ramón y Cajal, Teresa and Patcher, Nicholas and Gadea, Neus and Spigelman, Allan and van Os, Theo and Liljegren, Annelie and Side, Lucy and Brewer, Carole and Brady, Angela F and Donaldson, Alan and Stefansdottir, Vigdis and Friedman, Eitan and Chen-Shtoyerman, Rakefet and Amor, David J and Copakova, Lucia and Barwell, Julian and Giri, Veda N and Murthy, Vedang and Nicolai, Nicola and Teo, Soo-Hwang and Greenhalgh, Lynn and Strom, Sara and Henderson, Alex and McGrath, John and Gallagher, David and Aaronson, Neil and Ardern-Jones, Audrey and Bangma, Chris and Dearnaley, David and Costello, Philandra and Eyfjord, Jorunn and Rothwell, Jeanette and Falconer, Alison and Gronberg, Henrik and Hamdy, Freddie C and ... and IMPACT Collaborators and Clinical Chemistry, Malmö and Klinisk kemi, Malmö and EpiHealth: Epidemiology for Health and Lund University and Lunds universitet
European Urology, ISSN 0302-2838, 2014, Volume 66, Issue 3, pp. 489 - 499
Journal Article
European urology, ISSN 0302-2838, 09/2019
BRCA1 and BRCA2 mutations have been associated with prostate cancer (PCa) risk but a wide range of risk estimates have been reported that are based on... 
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 Kuchenbaecker, Karoline B and McGuffog, Lesley and Barrowdale, Daniel and Lee, Andrew and Soucy, Penny and Dennis, Joe and Domchek, Susan M and Robson, Mark and Spurdle, Amanda B and Ramus, Susan J and Mavaddat, Nasim and Terry, Mary Beth and Neuhausen, Susan L and Schmutzler, Rita Katharina and Simard, Jacques and Pharoah, Paul D.P and Offit, Kenneth and Couch, Fergus J and Chenevix-Trench, Georgia and Easton, Douglas F and Antoniou, Antonis C and Healey, Sue and Lush, Michael and Hamann, Ute and Southey, Melissa and John, Esther M and Chung, Wendy K and Daly, Mary B and Buys, Saundra S and Goldgar, David E and Dorfling, Cecilia M and van Rensburg, Elizabeth J and Ding, Yuan Chun and Ejlertsen, Bent and Gerdes, Anne-Marie and Hansen, Thomas V. O and Slager, Susan and Hallberg, Emily and Benitez, Javier and Osorio, Ana and Cohen, Nancy and Lawler, William and Weitzel, Jeffrey N and Peterlongo, Paolo and Pensotti, Valeria and Dolcetti, Riccardo and Barile, Monica and Bonanni, Bernardo and Azzollini, Jacopo and Manoukian, Siranoush and Peissel, Bernard and Radice, Paolo and Savarese, Antonella and Papi, Laura and Giannini, Giuseppe and Fostira, Florentia and Konstantopoulou, Irene and Adlard, Julian and Brewer, Carole and Cook, Jackie and Davidson, Rosemarie and Eccles, Diana and Eeles, Ros and Ellis, Steve and EMBRACE, EMBRACE and Frost, Debra and Hodgson, Shirley and Izatt, Louise and Lalloo, Fiona and Ong, Kai-ren and Godwin, Andrew K and Arnold, Norbert and Dworniczak, Bernd and Engel, Christoph and Gehrig, Andrea and Hahnen, Eric and Hauke, Jan and Kast, Karin and Meindl, Alfons and Niederacher, Dieter and Varon-Mateeva, Raymonda and Wang-Gohrke, Shan and Wappenschmidt, Barbara and Barjhoux, Laure and Collonge-Rame, Marie-Agne`s and Elan, Camille and GEMO Study Collaborators, Study Collaborators and Golmard, Lisa and Barouk-Simonet, Emmanuelle and Lesueur, Fabienne and Mazoyer, Sylvie and Sokolowska, Joanna and StoppaLyonnet, Dominique and Isaacs, Claudine and Claes, Kathleen B. M and Poppe, Bruce and de la Hoya, Miguel and Garcia-Barberan, Vanesa and Aittomäki, Kristiina and Nevanlinna, Heli and ... and Onkologi och Patologi, MV and Lund University and Division of Clinical Genetics and Oncology and Pathology, MV and Avdelningen för klinisk genetik and BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation and Lunds universitet
Journal of the National Cancer Institute, ISSN 0027-8874, 07/2017, Volume 109, Issue 7, p. djw302
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