日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

主要剪接体U4和U5小核RNA基因的显性变异通过破坏剪接过程导致神经发育障碍。

Nava, Caroline; Cogne, Benjamin; Santini, Amandine; Leitão, Elsa; Lecoquierre, François; Chen, Yuyang; Stenton, Sarah L; Besnard, Thomas; Heide, Solveig; Baer, Sarah; Jakhar, Abhilasha; Neuser, Sonja; Keren, Boris; Faudet, Anne; Forlani, Sylvie; Faoucher, Marie; Uguen, Kevin; Platzer, Konrad; Afenjar, Alexandra; Alessandri, Jean-Luc; Andres, Stephanie; Angelini, Chloé; Aral, Bernard; Arveiler, Benoit; Attie-Bitach, Tania; Aubert Mucca, Marion; Banneau, Guillaume; Barakat, Tahsin Stefan; Barcia, Giulia; Baulac, Stéphanie; Beneteau, Claire; Benkerdou, Fouzia; Bernard, Virginie; Bézieau, Stéphane; Bonneau, Dominique; Bonnet-Dupeyron, Marie-Noelle; Boussion, Simon; Boute, Odile; Brischoux-Boucher, Elise; Bryen, Samantha J; Buratti, Julien; Busa, Tiffany; Caliebe, Almuth; Capri, Yline; Cassinari, Kévin; Caumes, Roseline; Cenni, Camille; Chambon, Pascal; Charles, Perrine; Christodoulou, John; Colson, Cindy; Conrad, Solène; Cospain, Auriane; Coursimault, Juliette; Courtin, Thomas; Couse, Madeline; Coutton, Charles; Creveaux, Isabelle; D'Gama, Alissa M; Dauriat, Benjamin; de Sainte Agathe, Jean-Madeleine; Del Gobbo, Giulia; Delahaye-Duriez, Andrée; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Dieux-Coeslier, Anne; Do Souto Ferreira, Laura; Doco-Fenzy, Martine; Drukewitz, Stephan; Duboc, Véronique; Dubourg, Christèle; Duffourd, Yannis; Dyment, David; El Chehadeh, Salima; Elmaleh, Monique; Faivre, Laurence; Fennelly, Samuel; Fischer, Hanna; Fradin, Mélanie; Galludec Vaillant, Camille; Ganne, Benjamin; Ghoumid, Jamal; Goel, Himanshu; Gokce-Samar, Zeynep; Goldenberg, Alice; Gonfreville Robert, Romain; Gorokhova, Svetlana; Goujon, Louise; Granier, Victoria; Gras, Mathilde; Greally, John M; Greiten, Bianca; Gueguen, Paul; Guerrot, Anne-Marie; Guha, Saurav; Guimier, Anne; Haack, Tobias B; Hadj Abdallah, Hamza; Halleb, Yosra; Harbuz, Radu; Harris, Madeleine; Hentschel, Julia; Héron, Bénédicte; Hitz, Marc-Phillip; Innes, A Micheil; Jadas, Vincent; Januel, Louis; Jean-Marçais, Nolwenn; Jobanputra, Vaidehi; Jobic, Florence; Jornea, Ludmila; Jost, Céline; Julia, Sophie; Kaiser, Frank J; Kaschta, Daniel; Kaya, Sabine; Ketteler, Petra; Khadija, Bochra; Kilpert, Fabian; Knopp, Cordula; Kraft, Florian; Krey, Ilona; Lackmy, Marilyn; Laffargue, Fanny; Lambert, Laetitia; Lamont, Ryan; Laugel, Vincent; Laurie, Steven; Lauzon, Julie L; Lebreton, Louis; Lebrun, Marine; Legendre, Marine; Leguern, Eric; Lehalle, Daphné; Lejeune, Elodie; Lesca, Gaetan; Lesieur-Sebellin, Marion; Levy, Jonathan; Linglart, Agnès; Lyonnet, Stanislas; Lüthy, Kevin; Ma, Alan S; Mach, Corinne; Mandel, Jean-Louis; Mansour-Hendili, Lamisse; Marcadier, Julien; Marin, Victor; Margot, Henri; Marquet, Valentine; May, Angèle; Mayr, Johannes A; Meridda, Catherine; Michaud, Vincent; Michot, Caroline; Nadeau, Gwenael; Naudion, Sophie; Nguyen, Laetitia; Nizon, Mathilde; Nowak, Frédérique; Odent, Sylvie; Olin, Valerie; Osei-Owusu, Ikeoluwa A; Osmond, Matthew; Õunap, Katrin; Pasquier, Laurent; Passemard, Sandrine; Pauly, Melissa; Patat, Olivier; Pensec, Marine; Perrin-Sabourin, Laurence; Petit, Florence; Philippe, Christophe; Planes, Marc; Poduri, Annapurna; Poirsier, Céline; Pouzet, Antoine; Prince, Bradley; Prouteau, Clément; Pujol, Aurora; Racine, Caroline; Rama, Mélanie; Ramond, Francis; Ranguin, Kara; Raway, Margaux; Reis, André; Renaud, Mathilde; Revencu, Nicole; Richard, Anne-Claire; Riera-Navarro, Lucile; Rius, Rocio; Rodriguez, Diana; Rodriguez-Palmero, Agustí; Rondeau, Sophie; Roser-Unruh, Annika; Rougeot Jung, Christelle; Safraou, Hana; Satre, Véronique; Saugier-Veber, Pascale; Sauvestre, Clément; Schaefer, Elise; Shao, Wanqing; Schanze, Ina; Schlump, Jan-Ulrich; Schlüter Martin, Agatha; Schluth-Bolard, Caroline; Schuhmann, Sarah; Schröder, Christopher; Sebastin, Monisha; Sigaudy, Sabine; Spielmann, Malte; Spodenkiewicz, Marta; St Clair, Laura; Steffann, Julie; Stoeva, Radka; Surowy, Harald; Tarnopolsky, Mark A; Todosi, Calina; Toutain, Annick; Tran Mau-Them, Frédéric; Unterlauft, Astrid; Van-Gils, Julien; Vanlerberghe, Clémence; Vasileiou, Georgia; Vera, Gabriella; Verdel, André; Verloes, Alain; Vial, Yoann; Vignal, Cédric; Vincent, Marie; Vincent-Delorme, Catherine; Vincent-Devulder, Aline; Vitobello, Antonio; Weber, Sacha; Willems, Marjolaine; Zaafrane-Khachnaoui, Khaoula; Zacher, Pia; Zeltner, Lena; Ziegler, Alban; Galej, Wojciech P; Dollfus, Hélène; Thauvin, Christel; Boycott, Kym M; Marijon, Pierre; Lermine, Alban; Malan, Valérie; Rio, Marlène; Kuechler, Alma; Isidor, Bertrand; Drunat, Séverine; Smol, Thomas; Chatron, Nicolas; Piton, Amélie; Nicolas, Gael; Wagner, Matias; Abou Jamra, Rami; Héron, Delphine; Mignot, Cyril; Blanc, Pierre; O'Donnell-Luria, Anne; Whiffin, Nicola; Charbonnier, Camille; Charenton, Clément; Thevenon, Julien; Depienne, Christel

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity

KCND1变异体与X连锁神经发育障碍的病因学关联,该障碍具有可变表达性

Kalm, Tassja; Schob, Claudia; Völler, Hanna; Gardeitchik, Thatjana; Gilissen, Christian; Pfundt, Rolph; Klöckner, Chiara; Platzer, Konrad; Klabunde-Cherwon, Annick; Ries, Markus; Syrbe, Steffen; Beccaria, Francesca; Madia, Francesca; Scala, Marcello; Zara, Federico; Hofstede, Floris; Simon, Marleen E H; van Jaarsveld, Richard H; Oegema, Renske; van Gassen, Koen L I; Holwerda, Sjoerd J B; Barakat, Tahsin Stefan; Bouman, Arjan; van Slegtenhorst, Marjon; Álvarez, Sara; Fernández-Jaén, Alberto; Porta, Javier; Accogli, Andrea; Mancardi, Margherita Maria; Striano, Pasquale; Iacomino, Michele; Chae, Jong-Hee; Jang, SeSong; Kim, Soo Y; Chitayat, David; Mercimek-Andrews, Saadet; Depienne, Christel; Kampmeier, Antje; Kuechler, Alma; Surowy, Harald; Bertini, Enrico Silvio; Radio, Francesca Clementina; Mancini, Cecilia; Pizzi, Simone; Tartaglia, Marco; Gauthier, Lucas; Genevieve, David; Tharreau, Mylène; Azoulay, Noy; Zaks-Hoffer, Gal; Gilad, Nesia K; Orenstein, Naama; Bernard, Geneviève; Thiffault, Isabelle; Denecke, Jonas; Herget, Theresia; Kortüm, Fanny; Kubisch, Christian; Bähring, Robert; Kindler, Stefan

Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry

聚合检验可识别不同祖先人群中与乳腺癌相关的新基因

Mueller, Stefanie H; Lai, Alvina G; Valkovskaya, Maria; Michailidou, Kyriaki; Bolla, Manjeet K; Wang, Qin; Dennis, Joe; Lush, Michael; Abu-Ful, Zomoruda; Ahearn, Thomas U; Andrulis, Irene L; Anton-Culver, Hoda; Antonenkova, Natalia N; Arndt, Volker; Aronson, Kristan J; Augustinsson, Annelie; Baert, Thais; Freeman, Laura E Beane; Beckmann, Matthias W; Behrens, Sabine; Benitez, Javier; Bermisheva, Marina; Blomqvist, Carl; Bogdanova, Natalia V; Bojesen, Stig E; Bonanni, Bernardo; Brenner, Hermann; Brucker, Sara Y; Buys, Saundra S; Castelao, Jose E; Chan, Tsun L; Chang-Claude, Jenny; Chanock, Stephen J; Choi, Ji-Yeob; Chung, Wendy K; Colonna, Sarah V; Cornelissen, Sten; Couch, Fergus J; Czene, Kamila; Daly, Mary B; Devilee, Peter; Dörk, Thilo; Dossus, Laure; Dwek, Miriam; Eccles, Diana M; Ekici, Arif B; Eliassen, A Heather; Engel, Christoph; Evans, D Gareth; Fasching, Peter A; Fletcher, Olivia; Flyger, Henrik; Gago-Dominguez, Manuela; Gao, Yu-Tang; García-Closas, Montserrat; García-Sáenz, José A; Genkinger, Jeanine; Gentry-Maharaj, Aleksandra; Grassmann, Felix; Guénel, Pascal; Gündert, Melanie; Haeberle, Lothar; Hahnen, Eric; Haiman, Christopher A; Håkansson, Niclas; Hall, Per; Harkness, Elaine F; Harrington, Patricia A; Hartikainen, Jaana M; Hartman, Mikael; Hein, Alexander; Ho, Weang-Kee; Hooning, Maartje J; Hoppe, Reiner; Hopper, John L; Houlston, Richard S; Howell, Anthony; Hunter, David J; Huo, Dezheng; Ito, Hidemi; Iwasaki, Motoki; Jakubowska, Anna; Janni, Wolfgang; John, Esther M; Jones, Michael E; Jung, Audrey; Kaaks, Rudolf; Kang, Daehee; Khusnutdinova, Elza K; Kim, Sung-Won; Kitahara, Cari M; Koutros, Stella; Kraft, Peter; Kristensen, Vessela N; Kubelka-Sabit, Katerina; Kurian, Allison W; Kwong, Ava; Lacey, James V; Lambrechts, Diether; Le Marchand, Loic; Li, Jingmei; Linet, Martha; Lo, Wing-Yee; Long, Jirong; Lophatananon, Artitaya; Mannermaa, Arto; Manoochehri, Mehdi; Margolin, Sara; Matsuo, Keitaro; Mavroudis, Dimitrios; Menon, Usha; Muir, Kenneth; Murphy, Rachel A; Nevanlinna, Heli; Newman, William G; Niederacher, Dieter; O'Brien, Katie M; Obi, Nadia; Offit, Kenneth; Olopade, Olufunmilayo I; Olshan, Andrew F; Olsson, Håkan; Park, Sue K; Patel, Alpa V; Patel, Achal; Perou, Charles M; Peto, Julian; Pharoah, Paul D P; Plaseska-Karanfilska, Dijana; Presneau, Nadege; Rack, Brigitte; Radice, Paolo; Ramachandran, Dhanya; Rashid, Muhammad U; Rennert, Gad; Romero, Atocha; Ruddy, Kathryn J; Ruebner, Matthias; Saloustros, Emmanouil; Sandler, Dale P; Sawyer, Elinor J; Schmidt, Marjanka K; Schmutzler, Rita K; Schneider, Michael O; Scott, Christopher; Shah, Mitul; Sharma, Priyanka; Shen, Chen-Yang; Shu, Xiao-Ou; Simard, Jacques; Surowy, Harald; Tamimi, Rulla M; Tapper, William J; Taylor, Jack A; Teo, Soo Hwang; Teras, Lauren R; Toland, Amanda E; Tollenaar, Rob A E M; Torres, Diana; Torres-Mejía, Gabriela; Troester, Melissa A; Truong, Thérèse; Vachon, Celine M; Vijai, Joseph; Weinberg, Clarice R; Wendt, Camilla; Winqvist, Robert; Wolk, Alicja; Wu, Anna H; Yamaji, Taiki; Yang, Xiaohong R; Yu, Jyh-Cherng; Zheng, Wei; Ziogas, Argyrios; Ziv, Elad; Dunning, Alison M; Easton, Douglas F; Hemingway, Harry; Hamann, Ute; Kuchenbaecker, Karoline B

FGF9-Associated Multiple Synostoses Syndrome Type 3 in a Multigenerational Family

家族多代成员中FGF9相关多发性骨缝早闭综合征3型

Schmetz, Ariane; Schaper, Jörg; Thelen, Simon; Rana, Majeed; Klenzner, Thomas; Schaumann, Katharina; Beygo, Jasmin; Surowy, Harald; Lüdecke, Hermann-Josef; Wieczorek, Dagmar

Physical activity, sedentary time and breast cancer risk: a Mendelian randomisation study

身体活动、久坐时间和乳腺癌风险:一项孟德尔随机化研究

Dixon-Suen, Suzanne C; Lewis, Sarah J; Martin, Richard M; English, Dallas R; Boyle, Terry; Giles, Graham G; Michailidou, Kyriaki; Bolla, Manjeet K; Wang, Qin; Dennis, Joe; Lush, Michael; Investigators, Abctb; Ahearn, Thomas U; Ambrosone, Christine B; Andrulis, Irene L; Anton-Culver, Hoda; Arndt, Volker; Aronson, Kristan J; Augustinsson, Annelie; Auvinen, Päivi; Beane Freeman, Laura E; Becher, Heiko; Beckmann, Matthias W; Behrens, Sabine; Bermisheva, Marina; Blomqvist, Carl; Bogdanova, Natalia V; Bojesen, Stig E; Bonanni, Bernardo; Brenner, Hermann; Brüning, Thomas; Buys, Saundra S; Camp, Nicola J; Campa, Daniele; Canzian, Federico; Castelao, Jose E; Cessna, Melissa H; Chang-Claude, Jenny; Chanock, Stephen J; Clarke, Christine L; Conroy, Don M; Couch, Fergus J; Cox, Angela; Cross, Simon S; Czene, Kamila; Daly, Mary B; Devilee, Peter; Dörk, Thilo; Dwek, Miriam; Eccles, Diana M; Eliassen, A Heather; Engel, Christoph; Eriksson, Mikael; Evans, D Gareth; Fasching, Peter A; Fletcher, Olivia; Flyger, Henrik; Fritschi, Lin; Gabrielson, Marike; Gago-Dominguez, Manuela; García-Closas, Montserrat; García-Sáenz, José A; Goldberg, Mark S; Guénel, Pascal; Gündert, Melanie; Hahnen, Eric; Haiman, Christopher A; Häberle, Lothar; Håkansson, Niclas; Hall, Per; Hamann, Ute; Hart, Steven N; Harvie, Michelle; Hillemanns, Peter; Hollestelle, Antoinette; Hooning, Maartje J; Hoppe, Reiner; Hopper, John; Howell, Anthony; Hunter, David J; Jakubowska, Anna; Janni, Wolfgang; John, Esther M; Jung, Audrey; Kaaks, Rudolf; Keeman, Renske; Kitahara, Cari M; Koutros, Stella; Kraft, Peter; Kristensen, Vessela N; Kubelka-Sabit, Katerina; Kurian, Allison W; Lacey, James V; Lambrechts, Diether; Le Marchand, Loic; Lindblom, Annika; Loibl, Sibylle; Lubiński, Jan; Mannermaa, Arto; Manoochehri, Mehdi; Margolin, Sara; Martinez, Maria Elena; Mavroudis, Dimitrios; Menon, Usha; Mulligan, Anna Marie; Murphy, Rachel A; Collaborators, Nbcs; Nevanlinna, Heli; Nevelsteen, Ines; Newman, William G; Offit, Kenneth; Olshan, Andrew F; Olsson, Håkan; Orr, Nick; Patel, Alpa; Peto, Julian; Plaseska-Karanfilska, Dijana; Presneau, Nadege; Rack, Brigitte; Radice, Paolo; Rees-Punia, Erika; Rennert, Gad; Rennert, Hedy S; Romero, Atocha; Saloustros, Emmanouil; Sandler, Dale P; Schmidt, Marjanka K; Schmutzler, Rita K; Schwentner, Lukas; Scott, Christopher; Shah, Mitul; Shu, Xiao-Ou; Simard, Jacques; Southey, Melissa C; Stone, Jennifer; Surowy, Harald; Swerdlow, Anthony J; Tamimi, Rulla M; Tapper, William J; Taylor, Jack A; Terry, Mary Beth; Tollenaar, Rob A E M; Troester, Melissa A; Truong, Thérèse; Untch, Michael; Vachon, Celine M; Joseph, Vijai; Wappenschmidt, Barbara; Weinberg, Clarice R; Wolk, Alicja; Yannoukakos, Drakoulis; Zheng, Wei; Ziogas, Argyrios; Dunning, Alison M; Pharoah, Paul D P; Easton, Douglas F; Milne, Roger L; Lynch, Brigid M

Breast cancer risks associated with missense variants in breast cancer susceptibility genes

与乳腺癌易感基因错义变异相关的乳腺癌风险

Dorling, Leila; Carvalho, Sara; Allen, Jamie; Parsons, Michael T; Fortuno, Cristina; González-Neira, Anna; Heijl, Stephan M; Adank, Muriel A; Ahearn, Thomas U; Andrulis, Irene L; Auvinen, Päivi; Becher, Heiko; Beckmann, Matthias W; Behrens, Sabine; Bermisheva, Marina; Bogdanova, Natalia V; Bojesen, Stig E; Bolla, Manjeet K; Bremer, Michael; Briceno, Ignacio; Camp, Nicola J; Campbell, Archie; Castelao, Jose E; Chang-Claude, Jenny; Chanock, Stephen J; Chenevix-Trench, Georgia; Collée, J Margriet; Czene, Kamila; Dennis, Joe; Dörk, Thilo; Eriksson, Mikael; Evans, D Gareth; Fasching, Peter A; Figueroa, Jonine; Flyger, Henrik; Gabrielson, Marike; Gago-Dominguez, Manuela; García-Closas, Montserrat; Giles, Graham G; Glendon, Gord; Guénel, Pascal; Gündert, Melanie; Hadjisavvas, Andreas; Hahnen, Eric; Hall, Per; Hamann, Ute; Harkness, Elaine F; Hartman, Mikael; Hogervorst, Frans B L; Hollestelle, Antoinette; Hoppe, Reiner; Howell, Anthony; Jakubowska, Anna; Jung, Audrey; Khusnutdinova, Elza; Kim, Sung-Won; Ko, Yon-Dschun; Kristensen, Vessela N; Lakeman, Inge M M; Li, Jingmei; Lindblom, Annika; Loizidou, Maria A; Lophatananon, Artitaya; Lubiński, Jan; Luccarini, Craig; Madsen, Michael J; Mannermaa, Arto; Manoochehri, Mehdi; Margolin, Sara; Mavroudis, Dimitrios; Milne, Roger L; Mohd Taib, Nur Aishah; Muir, Kenneth; Nevanlinna, Heli; Newman, William G; Oosterwijk, Jan C; Park, Sue K; Peterlongo, Paolo; Radice, Paolo; Saloustros, Emmanouil; Sawyer, Elinor J; Schmutzler, Rita K; Shah, Mitul; Sim, Xueling; Southey, Melissa C; Surowy, Harald; Suvanto, Maija; Tomlinson, Ian; Torres, Diana; Truong, Thérèse; van Asperen, Christi J; Waltes, Regina; Wang, Qin; Yang, Xiaohong R; Pharoah, Paul D P; Schmidt, Marjanka K; Benitez, Javier; Vroling, Bas; Dunning, Alison M; Teo, Soo Hwang; Kvist, Anders; de la Hoya, Miguel; Devilee, Peter; Spurdle, Amanda B; Vreeswijk, Maaike P G; Easton, Douglas F

Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women

乳腺癌风险基因——对超过113,000名女性的关联分析

Dorling, Leila; Carvalho, Sara; Allen, Jamie; González-Neira, Anna; Luccarini, Craig; Wahlström, Cecilia; Pooley, Karen A; Parsons, Michael T; Fortuno, Cristina; Wang, Qin; Bolla, Manjeet K; Dennis, Joe; Keeman, Renske; Alonso, M Rosario; Álvarez, Nuria; Herraez, Belen; Fernandez, Victoria; Núñez-Torres, Rocio; Osorio, Ana; Valcich, Jeanette; Li, Minerva; Törngren, Therese; Harrington, Patricia A; Baynes, Caroline; Conroy, Don M; Decker, Brennan; Fachal, Laura; Mavaddat, Nasim; Ahearn, Thomas; Aittomäki, Kristiina; Antonenkova, Natalia N; Arnold, Norbert; Arveux, Patrick; Ausems, Margreet G E M; Auvinen, Päivi; Becher, Heiko; Beckmann, Matthias W; Behrens, Sabine; Bermisheva, Marina; Białkowska, Katarzyna; Blomqvist, Carl; Bogdanova, Natalia V; Bogdanova-Markov, Nadja; Bojesen, Stig E; Bonanni, Bernardo; Børresen-Dale, Anne-Lise; Brauch, Hiltrud; Bremer, Michael; Briceno, Ignacio; Brüning, Thomas; Burwinkel, Barbara; Cameron, David A; Camp, Nicola J; Campbell, Archie; Carracedo, Angel; Castelao, Jose E; Cessna, Melissa H; Chanock, Stephen J; Christiansen, Hans; Collée, J Margriet; Cordina-Duverger, Emilie; Cornelissen, Sten; Czene, Kamila; Dörk, Thilo; Ekici, Arif B; Engel, Christoph; Eriksson, Mikael; Fasching, Peter A; Figueroa, Jonine; Flyger, Henrik; Försti, Asta; Gabrielson, Marike; Gago-Dominguez, Manuela; Georgoulias, Vassilios; Gil, Fabian; Giles, Graham G; Glendon, Gord; Garcia, Encarna B Gómez; Alnæs, Grethe I Grenaker; Guénel, Pascal; Hadjisavvas, Andreas; Haeberle, Lothar; Hahnen, Eric; Hall, Per; Hamann, Ute; Harkness, Elaine F; Hartikainen, Jaana M; Hartman, Mikael; He, Wei; Heemskerk-Gerritsen, Bernadette A M; Hillemanns, Peter; Hogervorst, Frans B L; Hollestelle, Antoinette; Ho, Weang Kee; Hooning, Maartje J; Howell, Anthony; Humphreys, Keith; Idris, Faiza; Jakubowska, Anna; Jung, Audrey; Kapoor, Pooja Middha; Kerin, Michael J; Khusnutdinova, Elza; Kim, Sung-Won; Ko, Yon-Dschun; Kosma, Veli-Matti; Kristensen, Vessela N; Kyriacou, Kyriacos; Lakeman, Inge M M; Lee, Jong Won; Lee, Min Hyuk; Li, Jingmei; Lindblom, Annika; Lo, Wing-Yee; Loizidou, Maria A; Lophatananon, Artitaya; Lubiński, Jan; MacInnis, Robert J; Madsen, Michael J; Mannermaa, Arto; Manoochehri, Mehdi; Manoukian, Siranoush; Margolin, Sara; Martinez, Maria Elena; Maurer, Tabea; Mavroudis, Dimitrios; McLean, Catriona; Meindl, Alfons; Mensenkamp, Arjen R; Michailidou, Kyriaki; Miller, Nicola; Mohd Taib, Nur Aishah; Muir, Kenneth; Mulligan, Anna Marie; Nevanlinna, Heli; Newman, William G; Nordestgaard, Børge G; Ng, Pei-Sze; Oosterwijk, Jan C; Park, Sue K; Park-Simon, Tjoung-Won; Perez, Jose I A; Peterlongo, Paolo; Porteous, David J; Prajzendanc, Karolina; Prokofyeva, Darya; Radice, Paolo; Rashid, Muhammad U; Rhenius, Valerie; Rookus, Matti A; Rüdiger, Thomas; Saloustros, Emmanouil; Sawyer, Elinor J; Schmutzler, Rita K; Schneeweiss, Andreas; Schürmann, Peter; Shah, Mitul; Sohn, Christof; Southey, Melissa C; Surowy, Harald; Suvanto, Maija; Thanasitthichai, Somchai; Tomlinson, Ian; Torres, Diana; Truong, Thérèse; Tzardi, Maria; Valova, Yana; van Asperen, Christi J; Van Dam, Rob M; van den Ouweland, Ans M W; van der Kolk, Lizet E; van Veen, Elke M; Wendt, Camilla; Williams, Justin A; Yang, Xiaohong R; Yoon, Sook-Yee; Zamora, M Pilar; Evans, D Gareth; de la Hoya, Miguel; Simard, Jacques; Antoniou, Antonis C; Borg, Åke; Andrulis, Irene L; Chang-Claude, Jenny; García-Closas, Montserrat; Chenevix-Trench, Georgia; Milne, Roger L; Pharoah, Paul D P; Schmidt, Marjanka K; Spurdle, Amanda B; Vreeswijk, Maaike P G; Benitez, Javier; Dunning, Alison M; Kvist, Anders; Teo, Soo H; Devilee, Peter; Easton, Douglas F

Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element

对 2q35 乳腺癌风险位点的功能注释表明,一个结构变异会影响长程增强子元件的活性。

Baxter, Joseph S; Johnson, Nichola; Tomczyk, Katarzyna; Gillespie, Andrea; Maguire, Sarah; Brough, Rachel; Fachal, Laura; Michailidou, Kyriaki; Bolla, Manjeet K; Wang, Qin; Dennis, Joe; Ahearn, Thomas U; Andrulis, Irene L; Anton-Culver, Hoda; Antonenkova, Natalia N; Arndt, Volker; Aronson, Kristan J; Augustinsson, Annelie; Becher, Heiko; Beckmann, Matthias W; Behrens, Sabine; Benitez, Javier; Bermisheva, Marina; Bogdanova, Natalia V; Bojesen, Stig E; Brenner, Hermann; Brucker, Sara Y; Cai, Qiuyin; Campa, Daniele; Canzian, Federico; Castelao, Jose E; Chan, Tsun L; Chang-Claude, Jenny; Chanock, Stephen J; Chenevix-Trench, Georgia; Choi, Ji-Yeob; Clarke, Christine L; Colonna, Sarah; Conroy, Don M; Couch, Fergus J; Cox, Angela; Cross, Simon S; Czene, Kamila; Daly, Mary B; Devilee, Peter; Dörk, Thilo; Dossus, Laure; Dwek, Miriam; Eccles, Diana M; Ekici, Arif B; Eliassen, A Heather; Engel, Christoph; Fasching, Peter A; Figueroa, Jonine; Flyger, Henrik; Gago-Dominguez, Manuela; Gao, Chi; García-Closas, Montserrat; García-Sáenz, José A; Ghoussaini, Maya; Giles, Graham G; Goldberg, Mark S; González-Neira, Anna; Guénel, Pascal; Gündert, Melanie; Haeberle, Lothar; Hahnen, Eric; Haiman, Christopher A; Hall, Per; Hamann, Ute; Hartman, Mikael; Hatse, Sigrid; Hauke, Jan; Hollestelle, Antoinette; Hoppe, Reiner; Hopper, John L; Hou, Ming-Feng; Ito, Hidemi; Iwasaki, Motoki; Jager, Agnes; Jakubowska, Anna; Janni, Wolfgang; John, Esther M; Joseph, Vijai; Jung, Audrey; Kaaks, Rudolf; Kang, Daehee; Keeman, Renske; Khusnutdinova, Elza; Kim, Sung-Won; Kosma, Veli-Matti; Kraft, Peter; Kristensen, Vessela N; Kubelka-Sabit, Katerina; Kurian, Allison W; Kwong, Ava; Lacey, James V; Lambrechts, Diether; Larson, Nicole L; Larsson, Susanna C; Le Marchand, Loic; Lejbkowicz, Flavio; Li, Jingmei; Long, Jirong; Lophatananon, Artitaya; Lubiński, Jan; Mannermaa, Arto; Manoochehri, Mehdi; Manoukian, Siranoush; Margolin, Sara; Matsuo, Keitaro; Mavroudis, Dimitrios; Mayes, Rebecca; Menon, Usha; Milne, Roger L; Mohd Taib, Nur Aishah; Muir, Kenneth; Muranen, Taru A; Murphy, Rachel A; Nevanlinna, Heli; O'Brien, Katie M; Offit, Kenneth; Olson, Janet E; Olsson, Håkan; Park, Sue K; Park-Simon, Tjoung-Won; Patel, Alpa V; Peterlongo, Paolo; Peto, Julian; Plaseska-Karanfilska, Dijana; Presneau, Nadege; Pylkäs, Katri; Rack, Brigitte; Rennert, Gad; Romero, Atocha; Ruebner, Matthias; Rüdiger, Thomas; Saloustros, Emmanouil; Sandler, Dale P; Sawyer, Elinor J; Schmidt, Marjanka K; Schmutzler, Rita K; Schneeweiss, Andreas; Schoemaker, Minouk J; Shah, Mitul; Shen, Chen-Yang; Shu, Xiao-Ou; Simard, Jacques; Southey, Melissa C; Stone, Jennifer; Surowy, Harald; Swerdlow, Anthony J; Tamimi, Rulla M; Tapper, William J; Taylor, Jack A; Teo, Soo Hwang; Teras, Lauren R; Terry, Mary Beth; Toland, Amanda E; Tomlinson, Ian; Truong, Thérèse; Tseng, Chiu-Chen; Untch, Michael; Vachon, Celine M; van den Ouweland, Ans M W; Wang, Sophia S; Weinberg, Clarice R; Wendt, Camilla; Winham, Stacey J; Winqvist, Robert; Wolk, Alicja; Wu, Anna H; Yamaji, Taiki; Zheng, Wei; Ziogas, Argyrios; Pharoah, Paul D P; Dunning, Alison M; Easton, Douglas F; Pettitt, Stephen J; Lord, Christopher J; Haider, Syed; Orr, Nick; Fletcher, Olivia

Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment

在根据与肿瘤生物学和全身治疗类型相关的临床病理变量定义的患者亚组中,种系遗传变异与乳腺癌特异性生存率之间的关联

Morra, Anna; Escala-Garcia, Maria; Beesley, Jonathan; Keeman, Renske; Canisius, Sander; Ahearn, Thomas U; Andrulis, Irene L; Anton-Culver, Hoda; Arndt, Volker; Auer, Paul L; Augustinsson, Annelie; Beane Freeman, Laura E; Becher, Heiko; Beckmann, Matthias W; Behrens, Sabine; Bojesen, Stig E; Bolla, Manjeet K; Brenner, Hermann; Brüning, Thomas; Buys, Saundra S; Caan, Bette; Campa, Daniele; Canzian, Federico; Castelao, Jose E; Chang-Claude, Jenny; Chanock, Stephen J; Cheng, Ting-Yuan David; Clarke, Christine L; Colonna, Sarah V; Couch, Fergus J; Cox, Angela; Cross, Simon S; Czene, Kamila; Daly, Mary B; Dennis, Joe; Dörk, Thilo; Dossus, Laure; Dunning, Alison M; Dwek, Miriam; Eccles, Diana M; Ekici, Arif B; Eliassen, A Heather; Eriksson, Mikael; Evans, D Gareth; Fasching, Peter A; Flyger, Henrik; Fritschi, Lin; Gago-Dominguez, Manuela; García-Sáenz, José A; Giles, Graham G; Grip, Mervi; Guénel, Pascal; Gündert, Melanie; Hahnen, Eric; Haiman, Christopher A; Håkansson, Niclas; Hall, Per; Hamann, Ute; Hart, Steven N; Hartikainen, Jaana M; Hartmann, Arndt; He, Wei; Hooning, Maartje J; Hoppe, Reiner; Hopper, John L; Howell, Anthony; Hunter, David J; Jager, Agnes; Jakubowska, Anna; Janni, Wolfgang; John, Esther M; Jung, Audrey Y; Kaaks, Rudolf; Keupers, Machteld; Kitahara, Cari M; Koutros, Stella; Kraft, Peter; Kristensen, Vessela N; Kurian, Allison W; Lacey, James V; Lambrechts, Diether; Le Marchand, Loic; Lindblom, Annika; Linet, Martha; Luben, Robert N; Lubiński, Jan; Lush, Michael; Mannermaa, Arto; Manoochehri, Mehdi; Margolin, Sara; Martens, John W M; Martinez, Maria Elena; Mavroudis, Dimitrios; Michailidou, Kyriaki; Milne, Roger L; Mulligan, Anna Marie; Muranen, Taru A; Nevanlinna, Heli; Newman, William G; Nielsen, Sune F; Nordestgaard, Børge G; Olshan, Andrew F; Olsson, Håkan; Orr, Nick; Park-Simon, Tjoung-Won; Patel, Alpa V; Peissel, Bernard; Peterlongo, Paolo; Plaseska-Karanfilska, Dijana; Prajzendanc, Karolina; Prentice, Ross; Presneau, Nadege; Rack, Brigitte; Rennert, Gad; Rennert, Hedy S; Rhenius, Valerie; Romero, Atocha; Roylance, Rebecca; Ruebner, Matthias; Saloustros, Emmanouil; Sawyer, Elinor J; Schmutzler, Rita K; Schneeweiss, Andreas; Scott, Christopher; Shah, Mitul; Smichkoska, Snezhana; Southey, Melissa C; Stone, Jennifer; Surowy, Harald; Swerdlow, Anthony J; Tamimi, Rulla M; Tapper, William J; Teras, Lauren R; Terry, Mary Beth; Tollenaar, Rob A E M; Tomlinson, Ian; Troester, Melissa A; Truong, Thérèse; Vachon, Celine M; Wang, Qin; Hurson, Amber N; Winqvist, Robert; Wolk, Alicja; Ziogas, Argyrios; Brauch, Hiltrud; García-Closas, Montserrat; Pharoah, Paul D P; Easton, Douglas F; Chenevix-Trench, Georgia; Schmidt, Marjanka K

The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype

YARS1基因中的复发性错义突变p.(Arg367Trp)会导致一种独特的神经发育表型

Averdunk, Luisa; Sticht, Heinrich; Surowy, Harald; Lüdecke, Hermann-Josef; Koch-Hogrebe, Margarete; Alsaif, Hessa S; Kahrizi, Kimia; Alzaidan, Hamad; Alawam, Bashayer S; Tohary, Mohamed; Kraus, Cornelia; Endele, Sabine; Wadman, Erin; Kaplan, Julie D; Efthymiou, Stephanie; Najmabadi, Hossein; Reis, André; Alkuraya, Fowzan S; Wieczorek, Dagmar