Marks, Patrick; Garcia, Sarah; Barrio, Alvaro Martinez; Belhocine, Kamila; Bernate, Jorge; Bharadwaj, Rajiv; Bjornson, Keith; Catalanotti, Claudia; Delaney, Josh; Fehr, Adrian; Fiddes, Ian T.; Galvin, Brendan; Heaton, Haynes; Herschleb, Jill; Hindson, Christopher; Holt, Esty; Jabara, Cassandra B.; Jett, Susanna; Keivanfar, Nikka; Kyriazopoulou-Panagiotopoulou, Sofia; Lek, Monkol; Lin, Bill; Lowe, Adam; Mahamdallie, Shazia; Maheshwari, Shamoni; Makarewicz, Tony; Marshall, Jamie; Meschi, Francesca; O'Keefe, Christopher J.; Ordonez, Heather; Patel, Pranav; Price, Andrew; Royall, Ariel; Ruark, Elise; Seal, Sheila; Schnall-Levin, Michael; Shah, Preyas; Stafford, David; Williams, Stephen; Wu, Indira; Xu, Andrew Wei; Rahman, Nazneen; MacArthur, Daniel; Church, Deanna M.

Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth (vol 24, pg 4775, 2015)

HUMAN MOLECULAR GENETICS

IF3.2

2019-01-075

OAAI

Mosaic-variegated aneuploidy syndrome mutation or haploinsufficiency in Cep57 impairs tumor suppression

JOURNAL OF CLINICAL INVESTIGATION

IF13.6

2018-07-2318

OAAI

A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

一项针对229,000名女性的全转录组关联研究确定了乳腺癌的新候选易感基因

NATURE GENETICS

IF31.8

2018-06-18157

OAAI

Wu, Lang; Shi, Wei; Long, Jirong; Guo, Xingyi; Michailidou, Kyriaki; Beesley, Jonathan; Bolla, Manjeet K.; Shu, Xiao-Ou; Lu, Yingchang; Cai, Qiuyin; Al-Ejeh, Fares; Rozali, Esdy; Wang, Qin; Dennis, Joe; Li, Bingshan; Zeng, Chenjie; Feng, Helian; Gusev, Alexander; Barfield, Richard T.; Andrulis, Irene L.; Anton-Culver, Hoda; Arndt, Volker; Aronson, Kristan J.; Auer, Paul L.; Barrdahl, Myrto; Baynes, Caroline; Beckmann, Matthias W.; Benitez, Javier; Bermisheva, Marina; Blomqvist, Carl; Bogdanova, Natalia V.; Bojesen, Stig E.; Brauch, Hiltrud; Brenner, Hermann; Brinton, Louise; Broberg, Per; Brucker, Sara Y.; Burwinkel, Barbara; Caldes, Trinidad; Canzian, Federico; Carter, Brian D.; Castelao, J. Esteban; Chang-Claude, Jenny; Chen, Xiaoqing; Cheng, Ting-Yuan David; Christiansen, Hans; Clarke, Christine L.; Collee, Margriet; Cornelissen, Sten; Couch, Fergus J.; Cox, David; Cox, Angela; Cross, Simon S.; Cunningham, Julie M.; Czene, Kamila; Daly, Mary B.; Devilee, Peter; Doheny, Kimberly F.; Dork, Thilo; dos-Santos-Silva, Isabel; Dumont, Martine; Dwek, Miriam; Eccles, Diana M.; Eilber, Ursula; Eliassen, A. Heather; Engel, Christoph; Eriksson, Mikael; Fachal, Laura; Fasching, Peter A.; Figueroa, Jonine; Flesch-Janys, Dieter; Fletcher, Olivia; Flyger, Henrik; Fritschi, Lin; Gabrielson, Marike; Gago-Dominguez, Manuela; Gapstur, Susan M.; Garcia-Closas, Montserrat; Gaudet, Mia M.; Ghoussaini, Maya; Giles, Graham G.; Goldberg, Mark S.; Goldgar, David E.; Gonzalez-Neira, Anna; Guenel, Pascal; Hahnen, Eric; Haiman, Christopher A.; Hakansson, Niclas; Hall, Per; Hallberg, Emily; Hamann, Ute; Harrington, Patricia; Hein, Alexander; Hicks, Belynda; Hillemanns, Peter; Hollestelle, Antoinette; Hoover, Robert N.; Hopper, John L.; Huang, Guanmengqian; Humphreys, Keith; Hunter, David J.; Jakubowska, Anna; Janni, Wolfgang; John, Esther M.; Johnson, Nichola; Jones, Kristine; Jones, Michael E.; Jung, Audrey; Kaaks, Rudolf; Kerin, Michael J.; Khusnutdinova, Elza; Kosma, Veli-Matti; Kristensen, Vessela N.; Lambrechts, Diether; Le Marchand, Loic; Li, Jingmei; Lindstrom, Sara; Lissowska, Jolanta; Lo, Wing-Yee; Loibl, Sibylle; Lubinski, Jan; Luccarini, Craig; Lux, Michael P.; MacInnis, Robert J.; Maishman, Tom; Kostovska, Ivana Maleva; Mannermaa, Arto; Manson, Joann E.; Margolin, Sara; Mavroudis, Dimitrios; Meijers-Heijboer, Hanne; Meindl, Alfons; Menon, Usha; Meyer, Jeffery; Mulligan, Anna Marie; Neuhausen, Susan L.; Nevanlinna, Heli; Neven, Patrick; Nielsen, Sune F.; Nordestgaard, Borge G.; Olopade, Olufunmilayo I.; Olson, Janet E.; Olsson, Hakan; Peterlongo, Paolo; Peto, Julian; Plaseska-Karanfilska, Dijana; Prentice, Ross; Presneau, Nadege; Pylkas, Katri; Rack, Brigitte; Radice, Paolo; Rahman, Nazneen; Rennert, Gad; Rennert, Hedy S.; Rhenius, Valerie; Romero, Atocha; Romm, Jane; Rudolph, Anja; Saloustros, Emmanouil; Sandler, Dale P.; Sawyer, Elinor J.; Schmidt, Marjanka K.; Schmutzler, Rita K.; Schneeweiss, Andreas; Scott, Rodney J.; Scott, Christopher G.; Seal, Sheila; Shah, Mitul; Shrubsole, Martha J.; Smeets, Ann; Southey, Melissa C.; Spinelli, John J.; Stone, Jennifer; Surowy, Harald; Swerdlow, Anthony J.; Tamimi, Rulla M.; Tapper, William; Taylor, Jack A.; Terry, Mary Beth; Tessier, Daniel C.; Thomas, Abigail; Thone, Kathrin; Tollenaar, Rob A. E. M.; Torres, Diana; Truong, Therese; Untch, Michael; Vachon, Celine; Van den Berg, David; Vincent, Daniel; Waisfisz, Quinten; Weinberg, Clarice R.; Wendt, Camilla; Whittemore, Alice S.; Wildiers, Hans; Willett, Walter C.; Winqvist, Robert; Wolk, Alicja; Xia, Lucy; Yang, Xiaohong R.; Ziogas, Argyrios; Ziv, Elad; Dunning, Alison M.; Pharoah, Paul D. P.; Simard, Jacques; Milne, Roger L.; Edwards, Stacey L.; Kraft, Peter; Easton, Douglas F.; Chenevix-Trench, Georgia; Zheng, Wei

Carboplatin in BRCA1/2-mutated and triple-negative breast cancer BRCAness subgroups: the TNT Trial

卡铂在BRCA1/2突变和三阴性乳腺癌BRCAness亚组中的应用: TNT试验

NATURE MEDICINE

IF50

2018-04-30664

OAAI

Tutt, Andrew; Tovey, Holly; Cheang, Maggie Chon U.; Kernaghan, Sarah; Kilburn, Lucy; Gazinska, Patrycja; Owen, Julie; Abraham, Jacinta; Barrett, Sophie; Barrett-Lee, Peter; Brown, Robert; Chan, Stephen; Dowsett, Mitchell; Flanagan, James M.; Fox, Lisa; Grigoriadis, Anita; Gutin, Alexander; Harper-Wynne, Catherine; Hatton, Matthew Q.; Hoadley, Katherine A.; Parikh, Jyoti; Parker, Peter; Perou, Charles M.; Roylance, Rebecca; Shah, Vandna; Shaw, Adam; Smith, Ian E.; Timms, Kirsten M.; Wardley, Andrew M.; Wilson, Gregory; Gillett, Cheryl; Lanchbury, Jerry S.; Ashworth, Alan; Rahman, Nazneen; Harries, Mark; Ellis, Paul; Pinder, Sarah E.; Bliss, Judith M.

Mainstreaming genetic counselling for genetic testing of BRCA1 and BRCA2 in ovarian cancer patients in Malaysia (MaGiC study)

ANNALS OF ONCOLOGY

IF65.4

2017-11-017

OAAI

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

鉴定与雌激素受体阴性乳腺癌风险相关的十种变异

NATURE GENETICS

IF31.8

2017-10-23270

OAAI

Milne, Roger L.; Kuchenbaecker, Karoline B.; Michailidou, Kyriaki; Beesley, Jonathan; Kar, Siddhartha; Lindstrom, Sara; Hui, Shirley; Lemacon, Audrey; Soucy, Penny; Dennis, Joe; Jiang, Xia; Rostamianfar, Asha; Finucane, Hilary; Bolla, Manjeet K.; McGuffog, Lesley; Wang, Qin; Aalfs, Cora M.; Adams, Marcia; Adlard, Julian; Agata, Simona; Ahmed, Shahana; Ahsan, Habibul; Aittomaki, Kristiina; Al-Ejeh, Fares; Allen, Jamie; Ambrosone, Christine B.; Amos, Christopher I.; Andrulis, Irene L.; Anton-Culver, Hoda; Antonenkova, Natalia N.; Arndt, Volker; Arnold, Norbert; Aronson, Kristan J.; Auber, Bernd; Auer, Paul L.; Ausems, Margreet G. E. M.; Azzollini, Jacopo; Bacot, Francois; Balmana, Judith; Barile, Monica; Barjhoux, Laure; Barkardottir, Rosa B.; Barrdahl, Myrto; Barnes, Daniel; Barrowdale, Daniel; Baynes, Caroline; Beckmann, Matthias W.; Benitez, Javier; Bermisheva, Marina; Bernstein, Leslie; Bignon, Yves-Jean; Blazer, Kathleen R.; Blok, Marinus J.; Blomqvist, Carl; Blot, William; Bobolis, Kristie; Boeckx, Bram; Bogdanova, Natalia V.; Bojesen, Anders; Bojesen, Stig E.; Bonanni, Bernardo; Borresen-Dale, Anne-Lise; Bozsik, Aniko; Bradbury, Angela R.; Brand, Judith S.; Brauch, Hiltrud; Brenner, Hermann; Bressac-de Paillerets, Brigitte; Brewer, Carole; Brinton, Louise; Broberg, Per; Brooks-Wilson, Angela; Brunet, Joan; Bruening, Thomas; Burwinkel, Barbara; Buys, Saundra S.; Byun, Jinyoung; Cai, Qiuyin; Caldes, Trinidad; Caligo, Maria A.; Campbell, Ian; Canzian, Federico; Caron, Olivier; Carracedo, Angel; Carter, Brian D.; Esteban Castelao, J.; Castera, Laurent; Caux-Moncoutier, Virginie; Chan, Salina B.; Chang-Claude, Jenny; Chanock, Stephen J.; Chen, Xiaoqing; Cheng, Ting-Yuan David; Chiquette, Jocelyne; Christiansen, Hans; Claes, Kathleen B. M.; Clarke, Christine L.; Conner, Thomas; Conroy, Don M.; Cook, Jackie; Cordina-Duverger, Emilie; Cornelissen, Sten; Coupier, Isabelle; Cox, Angela; Cox, David G.; Cross, Simon S.; Cuk, Katarina; Cunningham, Julie M.; Czene, Kamila; Daly, Mary B.; Damiola, Francesca; Darabi, Hatef; Davidson, Rosemarie; De Leeneer, Kim; Devilee, Peter; Dicks, Ed; Diez, Orland; Ding, Yuan Chun; Ditsch, Nina; Doheny, Kimberly F.; Domchek, Susan M.; Dorfling, Cecilia M.; Doerk, Thilo; dos-Santos-Silva, Isabel; Dubois, Stephane; Dugue, Pierre-Antoine; Dumont, Martine; Dunning, Alison M.; Durcan, Lorraine; Dwek, Miriam; Dworniczak, Bernd; Eccles, Diana; Eeles, Ros; Ehrencrona, Hans; Eilber, Ursula; Ejlertsen, Bent; Ekici, Arif B.; Eliassen, A. Heather; Engel, Christoph; Eriksson, Mikael; Fachal, Laura; Faivre, Laurence; Fasching, Peter A.; Faust, Ulrike; Figueroa, Jonine; Flesch-Janys, Dieter; Fletcher, Olivia; Flyger, Henrik; Foulkes, William D.; Friedman, Eitan; Fritschi, Lin; Frost, Debra; Gabrielson, Marike; Gaddam, Pragna; Gammon, Marilie D.; Ganz, Patricia A.; Gapstur, Susan M.; Garber, Judy; Garcia-Barberan, Vanesa; Garcia-Saenz, Jose A.; Gaudet, Mia M.; Gauthier-Villars, Marion; Gehrig, Andrea; Georgoulias, Vassilios; Gerdes, Anne-Marie; Giles, Graham G.; Glendon, Gord; Godwin, Andrew K.; Goldberg, Mark S.; Goldgar, David E.; Gonzalez-Neira, Anna; Goodfellow, Paul; Greene, Mark H.; Alnaes, Grethe I. Grenaker; Grip, Mervi; Gronwald, Jacek; Grundy, Anne; Gschwantler-Kaulich, Daphne; Guenel, Pascal; Guo, Qi; Haeberle, Lothar; Hahnen, Eric; Haiman, Christopher A.; Hakansson, Niclas; Hallberg, Emily; Hamann, Ute; Hamel, Nathalie; Hankinson, Susan; Hansen, Thomas V. O.; Harrington, Patricia; Hart, Steven N.; Hartikainen, Jaana M.; Healey, Catherine S.; Hein, Alexander; Helbig, Sonja; Henderson, Alex; Heyworth, Jane; Hicks, Belynda; Hillemanns, Peter; Hodgson, Shirley; Hogervorst, Frans B.; Hollestelle, Antoinette; Hooning, Maartje J.; Hoover, Bob; Hopper, John L.; Hu, Chunling; Huang, Guanmengqian; Hulick, Peter J.; Humphreys, Keith; Hunter, David J.; Imyanitov, Evgeny N.; Isaacs, Claudine; Iwasaki, Motoki; Izatt, Louise; Jakubowska, Anna; James, Paul; Janavicius, Ramunas; Janni, Wolfgang; Jensen, Uffe Birk; John, Esther M.; Johnson, Nichola; Jones, Kristine; Jones, Michael; Jukkola-Vuorinen, Arja; Kaaks, Rudolf; Kabisch, Maria; Kaczmarek, Katarzyna; Kang, Daehee; Kast, Karin; Keeman, Renske; Kerin, Michael J.; Kets, Carolien M.; Keupers, Machteld; Khan, Sofia; Khusnutdinova, Elza; Kiiski, Johanna I.; Kim, Sung-Won; Knight, Julia A.; Konstantopoulou, Irene; Kosma, Veli-Matti; Kristensen, Vessela N.; Kruse, Torben A.; Kwong, Ava; Laenkholm, Anne-Vibeke; Laitman, Yael; Lalloo, Fiona; Lambrechts, Diether; Landsman, Keren; Lasset, Christine; Lazaro, Conxi; Le Marchand, Loic; Lecarpentier, Julie; Lee, Andrew; Lee, Eunjung; Lee, Jong Won; Lee, Min Hyuk; Lejbkowicz, Flavio; Lesueur, Fabienne; Li, Jingmei; Lilyquist, Jenna; Lincoln, Anne; Lindblom, Annika; Lissowska, Jolanta; Lo, Wing-Yee; Loibl, Sibylle; Long, Jirong; Loud, Jennifer T.; Lubinski, Jan; Luccarini, Craig; Lush, Michael; MacInnis, Robert J.; Maishman, Tom; Makalic, Enes; Kostovska, Ivana Maleva; Malone, Kathleen E.; Manoukian, Siranoush; Manson, JoAnn E.; Margolin, Sara; Martens, John W. M.; Martinez, Maria Elena; Matsuo, Keitaro; Mavroudis, Dimitrios; Mazoyer, Sylvie; McLean, Catriona; Meijers-Heijboer, Hanne; Menendez, Primitiva; Meyer, Jeffery; Miao, Hui; Miller, Austin; Miller, Nicola; Mitchell, Gillian; Montagna, Marco; Muir, Kenneth; Mulligan, Anna Marie; Mulot, Claire; Nadesan, Sue; Nathanson, Katherine L.; Neuhausen, Susan L.; Nevanlinna, Heli; Nevelsteen, Ines; Niederacher, Dieter; Nielsen, Sune F.; Nordestgaard, Borge G.; Norman, Aaron; Nussbaum, Robert L.; Olah, Edith; Olopade, Olufunmilayo I.; Olson, Janet E.; Olswold, Curtis; Ong, Kai-ren; Oosterwijk, Jan C.; Orr, Nick; Osorio, Ana; Pankratz, V. Shane; Papi, Laura; Park-Simon, Tjoung-Won; Paulsson-Karlsson, Ylva; Lloyd, Rachel; Pedersen, Inge Sokilde; Peissel, Bernard; Peixoto, Ana; Perez, Jose I. A.; Peterlongo, Paolo; Peto, Julian; Pfeiler, Georg; Phelan, Catherine M.; Pinchev, Mila; Plaseska-Karanfilska, Dijana; Poppe, Bruce; Porteous, Mary E.; Prentice, Ross; Presneau, Nadege; Prokofieva, Darya; Pugh, Elizabeth; Angel Pujana, Miquel; Pylkas, Katri; Rack, Brigitte; Radice, Paolo; Rahman, Nazneen; Rantala, Johanna; Rappaport-Fuerhauser, Christine; Rennert, Gad; Rennert, Hedy S.; Rhenius, Valerie; Rhiem, Kerstin; Richardson, Andrea; Rodriguez, Gustavo C.; Romero, Atocha; Romm, Jane; Rookus, Matti A.; Rudolph, Anja; Ruediger, Thomas; Saloustros, Emmanouil; Sanders, Joyce; Sandler, Dale P.; Sangrajrang, Suleeporn; Sawyer, Elinor J.; Schmidt, Daniel F.; Schoemaker, Minouk J.; Schumacher, Fredrick; Schuermann, Peter; Schwentner, Lukas; Scott, Christopher; Scott, Rodney J.; Seal, Sheila; Senter, Leigha; Seynaeve, Caroline; Shah, Mitul; Sharma, Priyanka; Shen, Chen-Yang; Sheng, Xin; Shimelis, Hermela; Shrubsole, Martha J.; Shu, Xiao-Ou; Side, Lucy E.; Singer, Christian F.; Sohn, Christof; Southey, Melissa C.; Spinelli, John J.; Spurdle, Amanda B.; Stegmaier, Christa; Stoppa-Lyonnet, Dominique; Sukiennicki, Grzegorz; Surowy, Harald; Sutter, Christian; Swerdlow, Anthony; Szabo, Csilla I.; Tamimi, Rulla M.; Tan, Yen Y.; Taylor, Jack A.; Tejada, Maria-Isabel; Tengstrom, Maria; Teo, Soo H.; Terry, Mary B.; Tessier, Daniel C.; Teule, Alex; Thoene, Kathrin; Thull, Darcy L.; Tibiletti, Maria Grazia; Tihomirova, Laima; Tischkowitz, Marc; Toland, Amanda E.; Tollenaar, Rob A. E. M.; Tomlinson, Ian; Tong, Ling; Torres, Diana; Tranchant, Martine; Truong, Therese; Tucker, Kathy; Tung, Nadine; Tyrer, Jonathan; Ulmer, Hans-Ulrich; Vachon, Celine; van Asperen, Christi J.; Van Den Berg, David; van den Ouweland, Ans M. W.; van Rensburg, Elizabeth J.; Varesco, Liliana; Varon-Mateeva, Raymonda; Vega, Ana; Viel, Alessandra; Vijai, Joseph; Vincent, Daniel; Vollenweider, Jason; Walker, Lisa; Wang, Zhaoming; Wang-Gohrke, Shan; Wappenschmidt, Barbara; Weinberg, Clarice R.; Weitzel, Jeffrey N.; Wendt, Camilla; Wesseling, Jelle; Whittemore, Alice S.; Wijnen, Juul T.; Willett, Walter; Winqvist, Robert; Wolk, Alicja; Wu, Anna H.; Xia, Lucy; Yang, Xiaohong R.; Yannoukakos, Drakoulis; Zaffaroni, Daniela; Zheng, Wei; Zhu, Bin; Ziogas, Argyrios; Ziv, Elad; Zorn, Kristin K.; Gago-Dominguez, Manuela; Mannermaa, Arto; Olsson, Hakan; Teixeira, Manuel R.; Stone, Jennifer; Offit, Kenneth; Ottini, Laura; Park, Sue K.; Thomassen, Mads; Hall, Per; Meindl, Alfons; Schmutzler, Rita K.; Droit, Arnaud; Bader, Gary D.; Pharoah, Paul D. P.; Couch, Fergus J.; Easton, Douglas F.; Kraft, Peter; Chenevix-Trench, Georgia; Garcia-Closas, Montserrat; Schmidt, Marjanka K.; Antoniou, Antonis C.; Simard, Jacques

Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation

NATURE GENETICS

IF31.8

2017-05-29121

OAAI

Common variants upstream of MLF1 at 3q25 and within CPZ at 4p16 associated with neuroblastoma

PLOS GENETICS

IF3.7

2017-05-1865

OAAI

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability

表观遗传调控基因突变是智力障碍过度生长的主要原因