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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 Kuchenbaecker, K.B and Ramus, S.J and Tyrer, J and Lee, A and Shen, H.C and Beesley, J and Lawrenson, K and McGuffog, L and Healey, S and Lee, J.M and Spindler, T.J and Lin, Y.G and Pejovic, T and Bean, Y and Li, Q and Coetzee, S and Hazelett, D and Miron, A and Southey, M and Terry, M.B and Goldgar, D.E and Buys, S.S and Janavicius, R and Dorfling, C.M and Rensburg, E.J. van and Neuhausen, S.L and Ding, Y.C and Hansen, T.V and Jonson, L and Gerdes, A.M and Ejlertsen, B and Barrowdale, D and Dennis, J and Benitez, J and Osorio, A and Garcia, M.J and Komenaka, I and Weitzel, J.N and Ganschow, P and Peterlongo, P and Bernard, L and Viel, A and Bonanni, B and Peissel, B and Manoukian, S and Radice, P and Papi, L and Ottini, L and Fostira, F and Konstantopoulou, I and Garber, J and Frost, D and Perkins, J and Platte, R and Ellis, S and Embrace and Godwin, A.K and Schmutzler, R.K and Meindl, A and Engel, C and Sutter, C and Sinilnikova, O.M and Damiola, F and Mazoyer, S and Stoppa-Lyonnet, D and Claes, K and Leeneer, K. De and Kirk, J and Roiguez, G.C and Piedmonte, M and O'Malley, D.M and Hoya, M. de la and Caldes, T and Aittomaki, K and Nevanlinna, H and Collee, J.M and Rookus, M.A and Oosterwijk, J.C and Tihomirova, L and Tung, N and Hamann, U and Isaccs, C and Tischkowitz, M and Imyanitov, E.N and Caligo, M.A and Campbell, I.G and Hogervorst, F.B and Olah, E and Diez, O and Blanco, I and Brunet, J and Lazaro, C and Pujana, M.A and Jakubowska, A and Gronwald, J and Lubinski, J and Sukiennicki, G and Massuger, L.F.A.G and Altena, A.M. van and Aben, K.K.H and ... and KConFab Investigators and EMBRACE and GEMO Study Collaborators and Breast Cancer Family Registry and Australian Ovarian Canc Study Grp and HEBON and Consortium Invest Modifiers BRCA1 and Australian Canc Study Ovarian Canc and Australian Cancer Study (Ovarian Cancer Investigators) and Australian Ovarian Cancer Study Group and Consortium of Investigators of Modifiers of BRCA1 and BRCA2 and the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 and Region Östergötland and Linköpings universitet and Institutionen för klinisk och experimentell medicin and Diagnostikcentrum and Klinisk patologi och klinisk genetik and Avdelningen för kliniska vetenskaper and Hälsouniversitetet
Nature Genetics, ISSN 1061-4036, 2015, Volume 47, Issue 2, pp. 164 - 171
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
PLoS One, ISSN 1932-6203, 2018, Volume 13, Issue 7, p. e0197561
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