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Dalia Kasperavičiūtė
Genomics England
48H指数
165论文数
1.2W被引数
收录论文 31
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Assessment of the variant prioritisation strategy for genomic newborn screening in the Generation Study《基因新生儿筛查中变异优先策略的评估（Generation 研究）》.png)
Genetics in Medicine.png)
2025-07-17
0
OAAI
Joanna Kaplanis; Dasha Deen; Prasanth Sivakumar; Mafalda de Almeida Gomes; Arina Puzriakova; Ivone Leong; Kevin Savage; Gabriel Aldam; James Skelton; Paul Quinn; Andrew Parrish; Emma Baple; Meekai To; Katrina Stone; David Bick; Amanda Pichini; Alice Tuff-Lacey; Richard Scott; Ellen Thomas; Dalia Kasperaviciute
Genetics in MedicineIF6.2
2025-07-170OAAIJoanna Kaplanis; Dasha Deen; Prasanth Sivakumar; Mafalda de Almeida Gomes; Arina Puzriakova; Ivone Leong; Kevin Savage; Gabriel Aldam; James Skelton; Paul Quinn; Andrew Parrish; Emma Baple; Meekai To; Katrina Stone; David Bick; Amanda Pichini; Alice Tuff-Lacey; Richard Scott; Ellen Thomas; Dalia Kasperaviciute.png){kind=icon}
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收藏Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosureGENETICS IN MEDICINE2024-03-013OAAINolan, Joshua; Buchanan, James; Taylor, John; Almeida, Joao; Bedenham, Tina; Blair, Edward; Broadgate, Suzanne; Butler, Samantha; Cazeaux, Angela; Craft, Judith; Cranston, Treena; Crawford, Gillian; Forrest, Jamie; Gabriel, Jessica; George, Elaine; Gillen, Donna; Haeger, Ash; Ward, Jillian Hastings; Hawkes, Lara; Hodgkiss, Claire; Hoffman, Jonathan; Jones, Alan; Karpe, Fredrik; Kasperaviciute, Dalia; Kovacs, Erika; Leigh, Sarah; Limb, Elizabeth; Lloyd-Jani, Anjali; Lopez, Javier; Lucassen, Anneke; McFarlane, Carlos; O'Reurke, Anthony W.; Pond, Emily; Sherman, Catherine; Stewart, Helen; Thomas, Ellen; Thomas, Simon; Thomas, Tessy; Thomson, Kate; Wakelin, Hannah; Walker, Susan; Watson, Melanie; Williams, Eleanor; Ormondroyd, Elizabeth
GENETICS IN MEDICINEIF6.2
2024-03-013OAAINolan, Joshua; Buchanan, James; Taylor, John; Almeida, Joao; Bedenham, Tina; Blair, Edward; Broadgate, Suzanne; Butler, Samantha; Cazeaux, Angela; Craft, Judith; Cranston, Treena; Crawford, Gillian; Forrest, Jamie; Gabriel, Jessica; George, Elaine; Gillen, Donna; Haeger, Ash; Ward, Jillian Hastings; Hawkes, Lara; Hodgkiss, Claire; Hoffman, Jonathan; Jones, Alan; Karpe, Fredrik; Kasperaviciute, Dalia; Kovacs, Erika; Leigh, Sarah; Limb, Elizabeth; Lloyd-Jani, Anjali; Lopez, Javier; Lucassen, Anneke; McFarlane, Carlos; O'Reurke, Anthony W.; Pond, Emily; Sherman, Catherine; Stewart, Helen; Thomas, Ellen; Thomas, Simon; Thomas, Tessy; Thomson, Kate; Wakelin, Hannah; Walker, Susan; Watson, Melanie; Williams, Eleanor; Ormondroyd, Elizabeth分享收藏GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture超过29,000名癫痫患者的ghis荟萃分析确定了26个风险基因座和亚型特异性遗传结构NATURE GENETICS2023-08-3143OAAIStevelink, Remi; Campbell, Ciaran; Chen, Siwei; Abou-Khalil, Bassel; Adesoji, Oluyomi M.; Afawi, Zaid; Amadori, Elisabetta; Anderson, Alison; Anderson, Joseph; Andrade, Danielle M.; Annesi, Grazia; Auce, Pauls; Avbersek, Andreja; Bahlo, Melanie; Baker, Mark D.; Balagura, Ganna; Balestrini, Simona; Barba, Carmen; Barboza, Karen; Bartolomei, Fabrice; Bast, Thomas; Baum, Larry; Baumgartner, Tobias; Baykan, Betul; Bebek, Nerses; Becker, Albert J.; Becker, Felicitas; Bennett, Caitlin A.; Berghuis, Bianca; Berkovic, Samuel F.; Beydoun, Ahmad; Bianchini, Claudia; Bisulli, Francesca; Blatt, Ilan; Bobbili, Dheeraj R.; Borggraefe, Ingo; Bosselmann, Christian; Braatz, Vera; Bradfield, Jonathan P.; Brockmann, Knut; Brody, Lawrence C.; Buono, Russell J.; Busch, Robyn M.; Caglayan, Hande; Campbell, Ellen; Canafoglia, Laura; Canavati, Christina; Cascino, Gregory D.; Castellotti, Barbara; Catarino, Claudia B.; Cavalleri, Gianpiero L.; Cerrato, Felecia; Chassoux, Francine; Cherny, Stacey S.; Cheung, Ching-Lung; Chinthapalli, Krishna; Chou, I-Jun; Chung, Seo-Kyung; Churchhouse, Claire; Clark, Peggy O.; Cole, Andrew J.; Compston, Alastair; Coppola, Antonietta; Cosico, Mahgenn; Cossette, Patrick; Craig, John J.; Cusick, Caroline; Daly, Mark J.; Davis, Lea K.; de Haan, Gerrit-Jan; Delanty, Norman; Depondt, Chantal; Derambure, Philippe; Devinsky, Orrin; Di Vito, Lidia; Dlugos, Dennis J.; Doccini, Viola; Doherty, Colin P.; El-Naggar, Hany; Elger, Christian E.; Ellis, Colin A.; Eriksson, Johan G.; Faucon, Annika; Feng, Yen-Chen A.; Ferguson, Lisa; Ferraro, Thomas N.; Ferri, Lorenzo; Feucht, Martha; Fitzgerald, Mark; Fonferko-Shadrach, Beata; Fortunato, Francesco; Franceschetti, Silvana; Franke, Andre; French, Jacqueline A.; Freri, Elena; Gagliardi, Monica; Gambardella, Antonio; Geller, Eric B.; Giangregorio, Tania; Gjerstad, Leif; Glauser, Tracy; Goldberg, Ethan; Goldman, Alicia; Granata, Tiziana; Greenberg, David A.; Guerrini, Renzo; Gupta, Namrata; Haas, Kevin F.; Hakonarson, Hakon; Hallmann, Kerstin; Hassanin, Emadeldin; Hegde, Manu; Heinzen, Erin L.; Helbig, Ingo; Hengsbach, Christian; Heyne, Henrike O.; Hirose, Shinichi; Hirsch, Edouard; Hjalgrim, Helle; Howrigan, Daniel P.; Hucks, Donald; Hung, Po-Cheng; Iacomino, Michele; Imbach, Lukas L.; Inoue, Yushi; Ishii, Atsushi; Jamnadas-Khoda, Jennifer; Jehi, Lara; Johnson, Michael R.; Kalviainen, Reetta; Kamatani, Yoichiro; Kanaan, Moien; Kanai, Masahiro; Kantanen, Anne-Mari; Kara, Bulent; Kariuki, Symon M.; Kasperaviciute, Dalia; Trenite, Dorothee Kasteleijn-Nolst; Kato, Mitsuhiro; Kegele, Josua; Kesim, Yescommaim; Khoueiry-Zgheib, Nathalie; King, Chontelle; Kirsch, Heidi E.; Klein, Karl M.; Kluger, Gerhard; Knake, Susanne; Knowlton, Robert C.; Koeleman, Bobby P. C.; Korczyn, Amos D.; Koupparis, Andreas; Kousiappa, Ioanna; Krause, Roland; Krenn, Martin; Krestel, Heinz; Krey, Ilona; Kunz, Wolfram S.; Kurki, Mitja I.; Kurlemann, Gerhard; Kuzniecky, Ruben; Kwan, Patrick; Labate, Angelo; Lacey, Austin; Lal, Dennis; Landoulsi, Zied; Lau, Yu-Lung; Lauxmann, Stephen; Leech, Stephanie L.; Lehesjoki, Anna-Elina; Lemke, Johannes R.; Lerche, Holger; Lesca, Gaetan; Leu, Costin; Lewin, Naomi; Lewis-Smith, David; Li, Gloria H. -Y.; Li, Qingqin S.; Licchetta, Laura; Lin, Kuang-Lin; Lindhout, Dick; Linnankivi, Tarja; Lopes-Cendes, Iscia; Lowenstein, Daniel H.; Lui, Colin H. T.; Madia, Francesca; Magnusson, Sigurdur; Marson, Anthony G.; May, Patrick; McGraw, Christopher M.; Mei, Davide; Mills, James L.; Minardi, Raffaella; Mirza, Nasir; Moller, Rikke S.; Molloy, Anne M.; Montomoli, Martino; Mostacci, Barbara; Muccioli, Lorenzo; Muhle, Hiltrud; Mueller-Schlueter, Karen; Najm, Imad M.; Nasreddine, Wassim; Neale, Benjamin M.; Neubauer, Bernd; Newton, Charles R. J. C.; Noethen, Markus M.; Nothnagel, Michael; Nuernberg, Peter; O'Brien, Terence J.; Okada, Yukinori; Olafsson, Elias; Oliver, Karen L.; Ozkara, Cigdem; Palotie, Aarno; Pangilinan, Faith; Papacostas, Savvas S.; Parrini, Elena; Pato, Carlos N.; Pato, Michele T.; Pendziwiat, Manuela; Petrovski, Slave; Pickrell, William O.; Pinsky, Rebecca; Pippucci, Tommaso; Poduri, Annapurna; Pondrelli, Federica; Powell, Rob H. W.; Privitera, Michael; Rademacher, Annika; Radtke, Rodney; Ragona, Francesca; Rau, Sarah; Rees, Mark I.; Regan, Brigid M.; Reif, Philipp S.; Rhelms, Sylvain; Riva, Antonella; Rosenow, Felix; Ryvlin, Philippe; Saarela, Anni; Sadleir, Lynette G.; Sander, Josemir W.; Sander, Thomas; Scala, Marcello; Scattergood, Theresa; Schachter, Steven C.; Schankin, Christoph J.; Scheffer, Ingrid E.; Schmitz, Bettina; Schoch, Susanne; Schubert-Bast, Susanne; Schulze-Bonhage, Andreas; Scudieri, Paolo; Sham, Pak; Sheidley, Beth R.; Shih, Jerry J.; Sills, Graeme J.; Sisodiya, Sanjay M.; Smith, Michael C.; Smith, Philip E.; Sonsma, Anja C. M.; Speed, Doug; Sperling, Michael R.; Stefansson, Hreinn; Stefansson, Kari; Steinhoff, Bernhard J.; Stephani, Ulrich; Stewart, William C.; Stipa, Carlotta; Striano, Pasquale; Stroink, Hans; Strzelczyk, Adam; Surges, Rainer; Suzuki, Toshimitsu; Tan, K. Meng; Taneja, R. S.; Tanteles, George A.; Tauboll, Erik; Thio, Liu Lin; Thomas, G. Neil; Thomas, Rhys H.; Timonen, Oskari; Tinuper, Paolo; Todaro, Marian; Topaloglu, Pinar; Tozzi, Rossana; Tsai, Meng-Han; Tumiene, Birute; Turkdogan, Dilsad; Unnsteinsdottir, Unnur; Utkus, Algirdas; Vaidiswaran, Priya; Valton, Luc; van Baalen, Andreas; Vetro, Annalisa; Vining, Eileen P. G.; Visscher, Frank; von Brauchitsch, Sophie; von Wrede, Randi; Wagner, Ryan G.; Weber, Yvonne G.; Weckhuysen, Sarah; Weisenberg, Judith; Weller, Michael; Widdess-Walsh, Peter; Wolff, Markus; Wolking, Stefan; Wu, David; Yamakawa, Kazuhiro; Yang, Wanling; Yapici, Zuhal; Yucesan, Emrah; Zagaglia, Sara; Zahnert, Felix; Zara, Federico; Zhou, Wei; Zimprich, Fritz; Zsurka, Gabor; Ali, Quratulain Zulfiqar
NATURE GENETICSIF31.8
2023-08-3143OAAIStevelink, Remi; Campbell, Ciaran; Chen, Siwei; Abou-Khalil, Bassel; Adesoji, Oluyomi M.; Afawi, Zaid; Amadori, Elisabetta; Anderson, Alison; Anderson, Joseph; Andrade, Danielle M.; Annesi, Grazia; Auce, Pauls; Avbersek, Andreja; Bahlo, Melanie; Baker, Mark D.; Balagura, Ganna; Balestrini, Simona; Barba, Carmen; Barboza, Karen; Bartolomei, Fabrice; Bast, Thomas; Baum, Larry; Baumgartner, Tobias; Baykan, Betul; Bebek, Nerses; Becker, Albert J.; Becker, Felicitas; Bennett, Caitlin A.; Berghuis, Bianca; Berkovic, Samuel F.; Beydoun, Ahmad; Bianchini, Claudia; Bisulli, Francesca; Blatt, Ilan; Bobbili, Dheeraj R.; Borggraefe, Ingo; Bosselmann, Christian; Braatz, Vera; Bradfield, Jonathan P.; Brockmann, Knut; Brody, Lawrence C.; Buono, Russell J.; Busch, Robyn M.; Caglayan, Hande; Campbell, Ellen; Canafoglia, Laura; Canavati, Christina; Cascino, Gregory D.; Castellotti, Barbara; Catarino, Claudia B.; Cavalleri, Gianpiero L.; Cerrato, Felecia; Chassoux, Francine; Cherny, Stacey S.; Cheung, Ching-Lung; Chinthapalli, Krishna; Chou, I-Jun; Chung, Seo-Kyung; Churchhouse, Claire; Clark, Peggy O.; Cole, Andrew J.; Compston, Alastair; Coppola, Antonietta; Cosico, Mahgenn; Cossette, Patrick; Craig, John J.; Cusick, Caroline; Daly, Mark J.; Davis, Lea K.; de Haan, Gerrit-Jan; Delanty, Norman; Depondt, Chantal; Derambure, Philippe; Devinsky, Orrin; Di Vito, Lidia; Dlugos, Dennis J.; Doccini, Viola; Doherty, Colin P.; El-Naggar, Hany; Elger, Christian E.; Ellis, Colin A.; Eriksson, Johan G.; Faucon, Annika; Feng, Yen-Chen A.; Ferguson, Lisa; Ferraro, Thomas N.; Ferri, Lorenzo; Feucht, Martha; Fitzgerald, Mark; Fonferko-Shadrach, Beata; Fortunato, Francesco; Franceschetti, Silvana; Franke, Andre; French, Jacqueline A.; Freri, Elena; Gagliardi, Monica; Gambardella, Antonio; Geller, Eric B.; Giangregorio, Tania; Gjerstad, Leif; Glauser, Tracy; Goldberg, Ethan; Goldman, Alicia; Granata, Tiziana; Greenberg, David A.; Guerrini, Renzo; Gupta, Namrata; Haas, Kevin F.; Hakonarson, Hakon; Hallmann, Kerstin; Hassanin, Emadeldin; Hegde, Manu; Heinzen, Erin L.; Helbig, Ingo; Hengsbach, Christian; Heyne, Henrike O.; Hirose, Shinichi; Hirsch, Edouard; Hjalgrim, Helle; Howrigan, Daniel P.; Hucks, Donald; Hung, Po-Cheng; Iacomino, Michele; Imbach, Lukas L.; Inoue, Yushi; Ishii, Atsushi; Jamnadas-Khoda, Jennifer; Jehi, Lara; Johnson, Michael R.; Kalviainen, Reetta; Kamatani, Yoichiro; Kanaan, Moien; Kanai, Masahiro; Kantanen, Anne-Mari; Kara, Bulent; Kariuki, Symon M.; Kasperaviciute, Dalia; Trenite, Dorothee Kasteleijn-Nolst; Kato, Mitsuhiro; Kegele, Josua; Kesim, Yescommaim; Khoueiry-Zgheib, Nathalie; King, Chontelle; Kirsch, Heidi E.; Klein, Karl M.; Kluger, Gerhard; Knake, Susanne; Knowlton, Robert C.; Koeleman, Bobby P. C.; Korczyn, Amos D.; Koupparis, Andreas; Kousiappa, Ioanna; Krause, Roland; Krenn, Martin; Krestel, Heinz; Krey, Ilona; Kunz, Wolfram S.; Kurki, Mitja I.; Kurlemann, Gerhard; Kuzniecky, Ruben; Kwan, Patrick; Labate, Angelo; Lacey, Austin; Lal, Dennis; Landoulsi, Zied; Lau, Yu-Lung; Lauxmann, Stephen; Leech, Stephanie L.; Lehesjoki, Anna-Elina; Lemke, Johannes R.; Lerche, Holger; Lesca, Gaetan; Leu, Costin; Lewin, Naomi; Lewis-Smith, David; Li, Gloria H. -Y.; Li, Qingqin S.; Licchetta, Laura; Lin, Kuang-Lin; Lindhout, Dick; Linnankivi, Tarja; Lopes-Cendes, Iscia; Lowenstein, Daniel H.; Lui, Colin H. T.; Madia, Francesca; Magnusson, Sigurdur; Marson, Anthony G.; May, Patrick; McGraw, Christopher M.; Mei, Davide; Mills, James L.; Minardi, Raffaella; Mirza, Nasir; Moller, Rikke S.; Molloy, Anne M.; Montomoli, Martino; Mostacci, Barbara; Muccioli, Lorenzo; Muhle, Hiltrud; Mueller-Schlueter, Karen; Najm, Imad M.; Nasreddine, Wassim; Neale, Benjamin M.; Neubauer, Bernd; Newton, Charles R. J. C.; Noethen, Markus M.; Nothnagel, Michael; Nuernberg, Peter; O'Brien, Terence J.; Okada, Yukinori; Olafsson, Elias; Oliver, Karen L.; Ozkara, Cigdem; Palotie, Aarno; Pangilinan, Faith; Papacostas, Savvas S.; Parrini, Elena; Pato, Carlos N.; Pato, Michele T.; Pendziwiat, Manuela; Petrovski, Slave; Pickrell, William O.; Pinsky, Rebecca; Pippucci, Tommaso; Poduri, Annapurna; Pondrelli, Federica; Powell, Rob H. W.; Privitera, Michael; Rademacher, Annika; Radtke, Rodney; Ragona, Francesca; Rau, Sarah; Rees, Mark I.; Regan, Brigid M.; Reif, Philipp S.; Rhelms, Sylvain; Riva, Antonella; Rosenow, Felix; Ryvlin, Philippe; Saarela, Anni; Sadleir, Lynette G.; Sander, Josemir W.; Sander, Thomas; Scala, Marcello; Scattergood, Theresa; Schachter, Steven C.; Schankin, Christoph J.; Scheffer, Ingrid E.; Schmitz, Bettina; Schoch, Susanne; Schubert-Bast, Susanne; Schulze-Bonhage, Andreas; Scudieri, Paolo; Sham, Pak; Sheidley, Beth R.; Shih, Jerry J.; Sills, Graeme J.; Sisodiya, Sanjay M.; Smith, Michael C.; Smith, Philip E.; Sonsma, Anja C. M.; Speed, Doug; Sperling, Michael R.; Stefansson, Hreinn; Stefansson, Kari; Steinhoff, Bernhard J.; Stephani, Ulrich; Stewart, William C.; Stipa, Carlotta; Striano, Pasquale; Stroink, Hans; Strzelczyk, Adam; Surges, Rainer; Suzuki, Toshimitsu; Tan, K. Meng; Taneja, R. S.; Tanteles, George A.; Tauboll, Erik; Thio, Liu Lin; Thomas, G. Neil; Thomas, Rhys H.; Timonen, Oskari; Tinuper, Paolo; Todaro, Marian; Topaloglu, Pinar; Tozzi, Rossana; Tsai, Meng-Han; Tumiene, Birute; Turkdogan, Dilsad; Unnsteinsdottir, Unnur; Utkus, Algirdas; Vaidiswaran, Priya; Valton, Luc; van Baalen, Andreas; Vetro, Annalisa; Vining, Eileen P. G.; Visscher, Frank; von Brauchitsch, Sophie; von Wrede, Randi; Wagner, Ryan G.; Weber, Yvonne G.; Weckhuysen, Sarah; Weisenberg, Judith; Weller, Michael; Widdess-Walsh, Peter; Wolff, Markus; Wolking, Stefan; Wu, David; Yamakawa, Kazuhiro; Yang, Wanling; Yapici, Zuhal; Yucesan, Emrah; Zagaglia, Sara; Zahnert, Felix; Zara, Federico; Zhou, Wei; Zimprich, Fritz; Zsurka, Gabor; Ali, Quratulain Zulfiqar分享收藏Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing2023-02-0131OAAIChen, Xiao; Harting, John; Farrow, Emily; Thiffault, Isabelle; Kasperaviciute, Dalia; Hoischen, Alexander; Gilissen, Christian; Pastinen, Tomi; Eberle, Michael A.
2023-02-0131OAAIChen, Xiao; Harting, John; Farrow, Emily; Thiffault, Isabelle; Kasperaviciute, Dalia; Hoischen, Alexander; Gilissen, Christian; Pastinen, Tomi; Eberle, Michael A.分享收藏EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders2023-01-204OAAILenassi, Eva; Carvalho, Ana; Thormann, Anja; Abrahams, Liam; Arno, Gavin; Fletcher, Tracy; Hardcastle, Claire; Lopez, Javier; Hunt, Sarah E.; Short, Patrick; Sergouniotis, Panagiotis, I; Michaelides, Michel; Webster, Andrew; Cunningham, Fiona; Ramsden, Simon C.; Kasperaviciute, Dalia; Fitzpatrick, David R.; Black, Graeme C.; Ellingford, Jamie M.
2023-01-204OAAILenassi, Eva; Carvalho, Ana; Thormann, Anja; Abrahams, Liam; Arno, Gavin; Fletcher, Tracy; Hardcastle, Claire; Lopez, Javier; Hunt, Sarah E.; Short, Patrick; Sergouniotis, Panagiotis, I; Michaelides, Michel; Webster, Andrew; Cunningham, Fiona; Ramsden, Simon C.; Kasperaviciute, Dalia; Fitzpatrick, David R.; Black, Graeme C.; Ellingford, Jamie M.分享收藏Newborn Screening by Genomic Sequencing: Opportunities and Challenges通过基因组测序进行新生儿筛查: 机遇与挑战2022-07-1543OAAIBick, David; Ahmed, Arzoo; Deen, Dasha; Ferlini, Alessandra; Garnier, Nicolas; Kasperaviciute, Dalia; Leblond, Mathilde; Pichini, Amanda; Rendon, Augusto; Satija, Aditi; Tuff-Lacey, Alice; Scott, Richard H.
2022-07-1543OAAIBick, David; Ahmed, Arzoo; Deen, Dasha; Ferlini, Alessandra; Garnier, Nicolas; Kasperaviciute, Dalia; Leblond, Mathilde; Pichini, Amanda; Rendon, Augusto; Satija, Aditi; Tuff-Lacey, Alice; Scott, Richard H.分享收藏Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathycardiovascular research2022-02-1728OAAISpielmann, Nadine; Miller, Gregor; Oprea, Tudor I.; Hsu, Chih-Wei; Fobo, Gisela; Frishman, Goar; Montrone, Corinna; Haseli Mashhadi, Hamed; Mason, Jeremy; Munoz Fuentes, Violeta; Leuchtenberger, Stefanie; Ruepp, Andreas; Wagner, Matias; Westphal, Dominik S.; Wolf, Cordula; Goerlach, Agnes; Sanz-Moreno, Adrian; Cho, Yi-Li; Teperino, Raffaele; Brandmaier, Stefan; Sharma, Sapna; Galter, Isabella Rikarda; Oestereicher, Manuela A.; Zapf, Lilly; Mayer-Kuckuk, Philipp; Rozman, Jan; Teboul, Lydia; Bunton-Stasyshyn, Rosie K. A.; Cater, Heather; Stewart, Michelle; Christou, Skevoulla; Westerberg, Henrik; Willett, Amelia M.; Wotton, Janine M.; Roper, Willson B.; Christiansen, Audrey E.; Ward, Christopher S.; Heaney, Jason D.; Reynolds, Corey L.; Prochazka, Jan; Bower, Lynette; Clary, David; Selloum, Mohammed; Bou About, Ghina; Wendling, Olivia; Jacobs, Hugues; Leblanc, Sophie; Meziane, Hamid; Sorg, Tania; Audain, Enrique; Gilly, Arthur; Rayner, Nigel W.; Aguilar-Pimentel, Juan A.; Becker, Lore; Garrett, Lillian; Hoelter, Sabine M.; Amarie, Oana V.; Calzada-Wack, Julia; Klein-Rodewald, Tanja; da Silva-Buttkus, Patricia; Lengger, Christoph; Stoeger, Claudia; Gerlini, Raffaele; Rathkolb, Birgit; Mayr, Daniela; Seavitt, John; Gaspero, Angelina; Green, Jennie R.; Garza, Arturo; Bohat, Ritu; Wong, Leeyean; Mcelwee, Melissa L.; Kalaga, Sowmya; Rasmussen, Tara L.; Lorenzo, Isabel; Lanza, Denise G.; Samaco, Rodney C.; Veeraragaven, Surabi; Gallegos, Juan J.; Kasparek, Petr; Petrezselyova, Silvia; King, Ruairidh; Johnson, Sara; Cleak, James; Szkoe-Kovacs, Zsombor; Codner, Gemma; Mackenzie, Matthew; Caulder, Adam; Kenyon, Janet; Gardiner, Wendy; Phelps, Hayley; Hancock, Rhys; Norris, Claire; Moore, Michayla A.; Seluke, Audrie M.; Urban, Rachel; Kane, Coleen; Goodwin, Leslie O.; Peterson, Kevin A.; Mckay, Matthew; Cook, Jenn J.; Lowy, Jacob P.; Mcfarland, Michael; Wood, Joshua A.; Willis, Brandon J.; Tolentino, Heather; Tolentino, Todd; Schuchbauer, Michael; Salazar, Jason; Johnson, Jennifer; Munson, Rebecca; Ayadi, Abdel; Pavlovic, Guillaume; Birling, Marie-Christine; Jacquot, Sylvie; Ali-Hadji, Dalila; Charles, Philippe; Andre, Philippe; Champy, Marie-France; Riet, Fabrice; Vukobradovic, Igor; Berberovic, Zorana; Qu, Dawei; Guo, Ruolin; D'Souza, Abigail; Huang, Ziyue; Camilleri, Susan; Ganguly, Milan; Adissu, Hibret; Eskandarian, Mohammed; Shang, Xueyuan; Duffin, Kyle; Xu, Catherine; Roberton, Kyle; Laurin, Valerie; Lan, Qing; Sleep, Gillian; Creighton, Amie; Lintott, Lauri; Gertsenstein, Marina; Pereira, Monica; Tondat, Sandra; Patel, Amit; Cruz, Maribelle; Bezginov, Alex; Miller, David; Hy, Wang; Yoshiki, Atsushi; Tanaka, Nobuhiko; Tamura, Masaru; Liu, Zhiwei; Ermakova, Olga; Ferrara, Anna; Fruscoloni, Paolo; Seisenberger, Claudia; Buerger, Antje; Giesert, Florian; Ambrose, J. C.; Gam, Arumu P.; Bevers, R.; Bleda, M.; Boardman-Pretty, F.; Boustred, C. R.; Brittain, H.; Caulfield, M. J.; Chan, G. C.; Fowler, T.; Giess, A.; Hamblin, A.; Henderson, S.; Hubbard, T. J. P.; Jackson, R.; Jones, L. J.; Kasperaviciute, D.; Kayikci, M.; Kousathanas, A.; Lahnstein, L.; Leigh, S. E. A.; Leong, I. U. S.; Lopez, F. J.; Maleady-Crowe, F.; Mcentagart, M.; Minneci, F.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A. C.; O'Donovan, P.; Odhams, C. A.; Patch, C.; Perez-Gil, D.; Pereira, M. B.; Pullinger, J.; Rahim, T.; Rendon, A.; Rogers, T.; Savage, K.; Sawant, K.; Scott, R. H.; Siddiq, A.; Sieghart, A.; Smith, S. C.; Sosinsky, A.; Stuckey, A.; Tanguy, M.; Taylor-Tavares, A. L.; Thomas, E. R. A.; Thompson, S. R.; Tucci, A.; Welland, M. J.; Williams, E.; Witkowska, K.; Wood, S. M.; Hitz, Marc-Phillip; Zeggini, Eleftheria; Wolf, Eckhard; Sedlacek, Radislav; Murray, Steven A.; Svenson, Karen L.; Braun, Robert E.; White, Jaqueline K.; Kelsey, Lois; Gao, Xiang; Shiroishi, Toshihiko; Xu, Ying; Seong, Je Kyung; Mammano, Fabio; Tocchini-Valentini, Glauco P.; Beaudet, Arthur L.; Meehan, Terrence F.; Parkinson, Helen; Smedley, Damian; Mallon, Ann-Marie; Wells, Sara E.; Grallert, Harald; Wurst, Wolfgang; Marschall, Susan; Fuchs, Helmut; Brown, Steve D. M.; Flenniken, Ann M.; Nutter, Lauryl M. J.; Mckerlie, Colin; Herault, Yann; Lloyd, K. C. Kent; Dickinson, Mary E.; Gailus-Durner, Valerie; Hrabe de Angelis, Martin
cardiovascular researchIF10.8
2022-02-1728OAAISpielmann, Nadine; Miller, Gregor; Oprea, Tudor I.; Hsu, Chih-Wei; Fobo, Gisela; Frishman, Goar; Montrone, Corinna; Haseli Mashhadi, Hamed; Mason, Jeremy; Munoz Fuentes, Violeta; Leuchtenberger, Stefanie; Ruepp, Andreas; Wagner, Matias; Westphal, Dominik S.; Wolf, Cordula; Goerlach, Agnes; Sanz-Moreno, Adrian; Cho, Yi-Li; Teperino, Raffaele; Brandmaier, Stefan; Sharma, Sapna; Galter, Isabella Rikarda; Oestereicher, Manuela A.; Zapf, Lilly; Mayer-Kuckuk, Philipp; Rozman, Jan; Teboul, Lydia; Bunton-Stasyshyn, Rosie K. A.; Cater, Heather; Stewart, Michelle; Christou, Skevoulla; Westerberg, Henrik; Willett, Amelia M.; Wotton, Janine M.; Roper, Willson B.; Christiansen, Audrey E.; Ward, Christopher S.; Heaney, Jason D.; Reynolds, Corey L.; Prochazka, Jan; Bower, Lynette; Clary, David; Selloum, Mohammed; Bou About, Ghina; Wendling, Olivia; Jacobs, Hugues; Leblanc, Sophie; Meziane, Hamid; Sorg, Tania; Audain, Enrique; Gilly, Arthur; Rayner, Nigel W.; Aguilar-Pimentel, Juan A.; Becker, Lore; Garrett, Lillian; Hoelter, Sabine M.; Amarie, Oana V.; Calzada-Wack, Julia; Klein-Rodewald, Tanja; da Silva-Buttkus, Patricia; Lengger, Christoph; Stoeger, Claudia; Gerlini, Raffaele; Rathkolb, Birgit; Mayr, Daniela; Seavitt, John; Gaspero, Angelina; Green, Jennie R.; Garza, Arturo; Bohat, Ritu; Wong, Leeyean; Mcelwee, Melissa L.; Kalaga, Sowmya; Rasmussen, Tara L.; Lorenzo, Isabel; Lanza, Denise G.; Samaco, Rodney C.; Veeraragaven, Surabi; Gallegos, Juan J.; Kasparek, Petr; Petrezselyova, Silvia; King, Ruairidh; Johnson, Sara; Cleak, James; Szkoe-Kovacs, Zsombor; Codner, Gemma; Mackenzie, Matthew; Caulder, Adam; Kenyon, Janet; Gardiner, Wendy; Phelps, Hayley; Hancock, Rhys; Norris, Claire; Moore, Michayla A.; Seluke, Audrie M.; Urban, Rachel; Kane, Coleen; Goodwin, Leslie O.; Peterson, Kevin A.; Mckay, Matthew; Cook, Jenn J.; Lowy, Jacob P.; Mcfarland, Michael; Wood, Joshua A.; Willis, Brandon J.; Tolentino, Heather; Tolentino, Todd; Schuchbauer, Michael; Salazar, Jason; Johnson, Jennifer; Munson, Rebecca; Ayadi, Abdel; Pavlovic, Guillaume; Birling, Marie-Christine; Jacquot, Sylvie; Ali-Hadji, Dalila; Charles, Philippe; Andre, Philippe; Champy, Marie-France; Riet, Fabrice; Vukobradovic, Igor; Berberovic, Zorana; Qu, Dawei; Guo, Ruolin; D'Souza, Abigail; Huang, Ziyue; Camilleri, Susan; Ganguly, Milan; Adissu, Hibret; Eskandarian, Mohammed; Shang, Xueyuan; Duffin, Kyle; Xu, Catherine; Roberton, Kyle; Laurin, Valerie; Lan, Qing; Sleep, Gillian; Creighton, Amie; Lintott, Lauri; Gertsenstein, Marina; Pereira, Monica; Tondat, Sandra; Patel, Amit; Cruz, Maribelle; Bezginov, Alex; Miller, David; Hy, Wang; Yoshiki, Atsushi; Tanaka, Nobuhiko; Tamura, Masaru; Liu, Zhiwei; Ermakova, Olga; Ferrara, Anna; Fruscoloni, Paolo; Seisenberger, Claudia; Buerger, Antje; Giesert, Florian; Ambrose, J. C.; Gam, Arumu P.; Bevers, R.; Bleda, M.; Boardman-Pretty, F.; Boustred, C. R.; Brittain, H.; Caulfield, M. J.; Chan, G. C.; Fowler, T.; Giess, A.; Hamblin, A.; Henderson, S.; Hubbard, T. J. P.; Jackson, R.; Jones, L. J.; Kasperaviciute, D.; Kayikci, M.; Kousathanas, A.; Lahnstein, L.; Leigh, S. E. A.; Leong, I. U. S.; Lopez, F. J.; Maleady-Crowe, F.; Mcentagart, M.; Minneci, F.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A. C.; O'Donovan, P.; Odhams, C. A.; Patch, C.; Perez-Gil, D.; Pereira, M. B.; Pullinger, J.; Rahim, T.; Rendon, A.; Rogers, T.; Savage, K.; Sawant, K.; Scott, R. H.; Siddiq, A.; Sieghart, A.; Smith, S. C.; Sosinsky, A.; Stuckey, A.; Tanguy, M.; Taylor-Tavares, A. L.; Thomas, E. R. A.; Thompson, S. R.; Tucci, A.; Welland, M. J.; Williams, E.; Witkowska, K.; Wood, S. M.; Hitz, Marc-Phillip; Zeggini, Eleftheria; Wolf, Eckhard; Sedlacek, Radislav; Murray, Steven A.; Svenson, Karen L.; Braun, Robert E.; White, Jaqueline K.; Kelsey, Lois; Gao, Xiang; Shiroishi, Toshihiko; Xu, Ying; Seong, Je Kyung; Mammano, Fabio; Tocchini-Valentini, Glauco P.; Beaudet, Arthur L.; Meehan, Terrence F.; Parkinson, Helen; Smedley, Damian; Mallon, Ann-Marie; Wells, Sara E.; Grallert, Harald; Wurst, Wolfgang; Marschall, Susan; Fuchs, Helmut; Brown, Steve D. M.; Flenniken, Ann M.; Nutter, Lauryl M. J.; Mckerlie, Colin; Herault, Yann; Lloyd, K. C. Kent; Dickinson, Mary E.; Gailus-Durner, Valerie; Hrabe de Angelis, Martin分享收藏A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damageNATURE CANCER2021-04-2687OAAIZou, Xueqing; Koh, Gene Ching Chiek; Nanda, Arjun Scott; Degasperi, Andrea; Urgo, Katie; Roumeliotis, Theodoros I.; Agu, Chukwuma A.; Badja, Cherif; Momen, Sophie; Young, Jamie; Amarante, Tauanne Dias; Side, Lucy; Brice, Glen; Perez-Alonso, Vanesa; Rueda, Daniel; Gomez, Celine; Bushell, Wendy; Harris, Rebecca; Choudhary, Jyoti S.; Ambrose, John C.; Arumugam, Prabhu; Baple, Emma L.; Bleda, Marta; Boardman-Pretty, Freya; Boissiere, Jeanne M.; Boustred, Christopher R.; Brittain, Helen; Caulfield, Mark J.; Chan, Georgia C.; Craig, Clare E. H.; Daugherty, Louise C.; de Burca, Anna; Devereau, Andrew; Elgar, Greg; Foulger, Rebecca E.; Fowler, Tom; Furio-Tari, Pedro; Giess, Adam; Hackett, Joanne M.; Halai, Dina; Hamblin, Angela; Henderson, Shirley; Holman, James E.; Hubbard, Tim J. P.; Ibanez, Kristina; Jackson, Rob; Jones, Louise J.; Kasperaviciute, Dalia; Kayikci, Melis; Kousathanas, Athanasios; Lahnstein, Lea; Lawson, Kay; Leigh, Sarah E. A.; Leong, Ivonne U. S.; Lopez, Javier F.; Maleady-Crowe, Fiona; Mason, Joanne; McDonagh, Ellen M.; Moutsianas, Loukas; Mueller, Michael; Murugaesu, Nirupa; Need, Anna C.; O'Donovan, Pter; Odhams, Chris A.; Orioli, Andrea; Patch, Christine; Pereira, Mariana Buongermino; Perez-Gil, Daniel; Polychronopoulos, Dimitris; Pullinger, John; Rahim, Tahrima; Rendon, Augusto; Riesgo-Ferreiro, Pablo; Rogers, Tim; Ryten, Mina; Savage, Kevin; Sawant, Kushmita; Scott, Richard H.; Siddiq, Afshan; Sieghart, Alexander; Smedley, Damian; Smith, Katherine R.; Smith, Samuel C.; Sosinsky, Alona; Spooner, William; Stevens, Helen E.; Stuckey, Alexander; Sultana, Razvan; Tanguy, Melanie; Thomas, Ellen R. A.; Thompson, Simon R.; Tregidgo, Carolyn; Tucci, Arianna; Walsh, Emma; Watters, Sarah A.; Welland, Matthew J.; Williams, Eleanor; Witkowska, Katarzyna; Wood, Suzanne M.; Zarowiecki, Magdalena; Jiricny, Josef; Skarnes, William C.; Nik-Zainal, Serena
NATURE CANCERIF28.5
2021-04-2687OAAIZou, Xueqing; Koh, Gene Ching Chiek; Nanda, Arjun Scott; Degasperi, Andrea; Urgo, Katie; Roumeliotis, Theodoros I.; Agu, Chukwuma A.; Badja, Cherif; Momen, Sophie; Young, Jamie; Amarante, Tauanne Dias; Side, Lucy; Brice, Glen; Perez-Alonso, Vanesa; Rueda, Daniel; Gomez, Celine; Bushell, Wendy; Harris, Rebecca; Choudhary, Jyoti S.; Ambrose, John C.; Arumugam, Prabhu; Baple, Emma L.; Bleda, Marta; Boardman-Pretty, Freya; Boissiere, Jeanne M.; Boustred, Christopher R.; Brittain, Helen; Caulfield, Mark J.; Chan, Georgia C.; Craig, Clare E. H.; Daugherty, Louise C.; de Burca, Anna; Devereau, Andrew; Elgar, Greg; Foulger, Rebecca E.; Fowler, Tom; Furio-Tari, Pedro; Giess, Adam; Hackett, Joanne M.; Halai, Dina; Hamblin, Angela; Henderson, Shirley; Holman, James E.; Hubbard, Tim J. P.; Ibanez, Kristina; Jackson, Rob; Jones, Louise J.; Kasperaviciute, Dalia; Kayikci, Melis; Kousathanas, Athanasios; Lahnstein, Lea; Lawson, Kay; Leigh, Sarah E. A.; Leong, Ivonne U. S.; Lopez, Javier F.; Maleady-Crowe, Fiona; Mason, Joanne; McDonagh, Ellen M.; Moutsianas, Loukas; Mueller, Michael; Murugaesu, Nirupa; Need, Anna C.; O'Donovan, Pter; Odhams, Chris A.; Orioli, Andrea; Patch, Christine; Pereira, Mariana Buongermino; Perez-Gil, Daniel; Polychronopoulos, Dimitris; Pullinger, John; Rahim, Tahrima; Rendon, Augusto; Riesgo-Ferreiro, Pablo; Rogers, Tim; Ryten, Mina; Savage, Kevin; Sawant, Kushmita; Scott, Richard H.; Siddiq, Afshan; Sieghart, Alexander; Smedley, Damian; Smith, Katherine R.; Smith, Samuel C.; Sosinsky, Alona; Spooner, William; Stevens, Helen E.; Stuckey, Alexander; Sultana, Razvan; Tanguy, Melanie; Thomas, Ellen R. A.; Thompson, Simon R.; Tregidgo, Carolyn; Tucci, Arianna; Walsh, Emma; Watters, Sarah A.; Welland, Matthew J.; Williams, Eleanor; Witkowska, Katarzyna; Wood, Suzanne M.; Zarowiecki, Magdalena; Jiricny, Josef; Skarnes, William C.; Nik-Zainal, Serena分享收藏Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline2020-04-1714OAAIClarke, Jessica M.; Alikian, Mary; Xiao, Sihao; Kasperaviciute, Dalia; Thomas, Ellen; Turbin, Isobel; Olupona, Kike; Cifra, Elna; Curetean, Emanuel; Ferguson, Teena; Redhead, Julian; Shovlin, Claire L.
2020-04-1714OAAIClarke, Jessica M.; Alikian, Mary; Xiao, Sihao; Kasperaviciute, Dalia; Thomas, Ellen; Turbin, Isobel; Olupona, Kike; Cifra, Elna; Curetean, Emanuel; Ferguson, Teena; Redhead, Julian; Shovlin, Claire L.分享收藏Human and mouse essentiality screens as a resource for disease gene discoveryNATURE COMMUNICATIONS2020-01-3161OAAICacheiro, Pilar; Munoz-Fuentes, Violeta; Murray, Stephen A.; Dickinson, Mary E.; Bucan, Maja; Nutter, Lauryl M. J.; Peterson, Kevin A.; Haselimashhadi, Hamed; Flenniken, Ann M.; Morgan, Hugh; Westerberg, Henrik; Konopka, Tomasz; Hsu, Chih-Wei; Christiansen, Audrey; Lanza, Denise G.; Beaudet, Arthur L.; Heaney, Jason D.; Fuchs, Helmut; Gailus-Durner, Valerie; Sorg, Tania; Prochazka, Jan; Novosadova, Vendula; Lelliott, Christopher J.; Wardle-Jones, Hannah; Wells, Sara; Teboul, Lydia; Cater, Heather; Stewart, Michelle; Hough, Tertius; Wurst, Wolfgang; Sedlacek, Radislav; Adams, David J.; Seavitt, John R.; Tocchini-Valentini, Glauco; Mammano, Fabio; Braun, Robert E.; McKerlie, Colin; Herault, Yann; de Angelis, Martin Hrabe; Mallon, Ann-Marie; Lloyd, K. C. Kent; Brown, Steve D. M.; Parkinson, Helen; Meehan, Terrence F.; Smedley, Damian; Ambrose, J. C.; Arumugam, P.; Baple, E. L.; Bleda, M.; Boardman-Pretty, F.; Boissiere, J. M.; Boustred, C. R.; Brittain, H.; Caulfield, M. J.; Chan, G. C.; Craig, C. E. H.; Daugherty, L. C.; de Burca, A.; Devereau, A.; Elgar, G.; Foulger, R. E.; Fowler, T.; Furio-Tari, P.; Hackett, J. M.; Halai, D.; Hamblin, A.; Henderson, S.; Holman, J. E.; Hubbard, T. J. P.; Ibanez, K.; Jackson, R.; Jones, L. J.; Kasperaviciute, D.; Kayikci, M.; Lahnstein, L.; Lawson, K.; Leigh, S. E. A.; Leong, I. U. S.; Lopez, F. J.; Maleady-Crowe, F.; Mason, J.; McDonagh, E. M.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A. C.; Odhams, C. A.; Patch, C.; Perez-Gil, D.; Polychronopoulos, D.; Pullinger, J.; Rahim, T.; Rendon, A.; Riesgo-Ferreiro, P.; Rogers, T.; Ryten, M.; Savage, K.; Sawant, K.; Scott, R. H.; Siddiq, A.; Sieghart, A.; Smith, K. R.; Sosinsky, A.; Spooner, W.; Stevens, H. E.; Stuckey, A.; Sultana, R.; Thomas, E. R. A.; Thompson, S. R.; Tregidgo, C.; Tucci, A.; Walsh, E.; Watters, S. A.; Welland, M. J.; Williams, E.; Witkowska, K.; Wood, S. M.; Zarowiecki, M.; Marschall, Susan; Lengger, Christoph; Maier, Holger; Seisenberger, Claudia; Buerger, Antje; Kuehn, Ralf; Schick, Joel; Hoerlein, Andreas; Oritz, Oskar; Giesert, Florian; Beig, Joachim; Kenyon, Janet; Codner, Gemma; Fray, Martin; Johnson, Sara J.; Cleak, James; Szoke-Kovacs, Zsombor; Lafont, David; Vancollie, Valerie E.; McLaren, Robbie S. B.; Hughes-Hallett, Lena; Rowley, Christine; Sanderson, Emma; Galli, Antonella; Tuck, Elizabeth; Green, Angela; Tudor, Catherine; Siragher, Emma; Dabrowska, Monika; Mazzeo, Cecilia Icoresi; Griffiths, Mark; Gannon, David; Doe, Brendan; Cockle, Nicola; Kirton, Andrea; Bottomley, Joanna; Ingle, Catherine; Ryder, Edward; Gleeson, Diane; Ramirez-Solis, Ramiro; Birling, Marie-Christine; Pavlovic, Guillaume; Ayadi, Abdel; Hamid, Meziane; About, Ghina Bou; Champy, Marie-France; Jacobs, Hugues; Wendling, Olivia; Leblanc, Sophie; Vasseur, Laurent; Chesler, Elissa J.; Kumar, Vivek; White, Jacqueline K.; Svenson, Karen L.; Wiegand, Jean-Paul; Anderson, Laura L.; Wilcox, Troy; Clark, James; Ryan, Jennifer; Denegre, James; Stearns, Tim; Philip, Vivek; Witmeyer, Catherine; Bates, Lindsay; Seavey, Zachary; Stanley, Pamela; Willet, Amelia; Roper, Willson; Creed, Julie; Moore, Michayla; Dorr, Alex; Fraungruber, Pamelia; Presby, Rose; Mckay, Matthew; Nguyen-Bresinsky, Dong; Goodwin, Leslie; Urban, Rachel; Kane, Coleen
NATURE COMMUNICATIONSIF15.7
2020-01-3161OAAICacheiro, Pilar; Munoz-Fuentes, Violeta; Murray, Stephen A.; Dickinson, Mary E.; Bucan, Maja; Nutter, Lauryl M. J.; Peterson, Kevin A.; Haselimashhadi, Hamed; Flenniken, Ann M.; Morgan, Hugh; Westerberg, Henrik; Konopka, Tomasz; Hsu, Chih-Wei; Christiansen, Audrey; Lanza, Denise G.; Beaudet, Arthur L.; Heaney, Jason D.; Fuchs, Helmut; Gailus-Durner, Valerie; Sorg, Tania; Prochazka, Jan; Novosadova, Vendula; Lelliott, Christopher J.; Wardle-Jones, Hannah; Wells, Sara; Teboul, Lydia; Cater, Heather; Stewart, Michelle; Hough, Tertius; Wurst, Wolfgang; Sedlacek, Radislav; Adams, David J.; Seavitt, John R.; Tocchini-Valentini, Glauco; Mammano, Fabio; Braun, Robert E.; McKerlie, Colin; Herault, Yann; de Angelis, Martin Hrabe; Mallon, Ann-Marie; Lloyd, K. C. Kent; Brown, Steve D. M.; Parkinson, Helen; Meehan, Terrence F.; Smedley, Damian; Ambrose, J. C.; Arumugam, P.; Baple, E. L.; Bleda, M.; Boardman-Pretty, F.; Boissiere, J. M.; Boustred, C. R.; Brittain, H.; Caulfield, M. J.; Chan, G. C.; Craig, C. E. H.; Daugherty, L. C.; de Burca, A.; Devereau, A.; Elgar, G.; Foulger, R. E.; Fowler, T.; Furio-Tari, P.; Hackett, J. M.; Halai, D.; Hamblin, A.; Henderson, S.; Holman, J. E.; Hubbard, T. J. P.; Ibanez, K.; Jackson, R.; Jones, L. J.; Kasperaviciute, D.; Kayikci, M.; Lahnstein, L.; Lawson, K.; Leigh, S. E. A.; Leong, I. U. S.; Lopez, F. J.; Maleady-Crowe, F.; Mason, J.; McDonagh, E. M.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A. C.; Odhams, C. A.; Patch, C.; Perez-Gil, D.; Polychronopoulos, D.; Pullinger, J.; Rahim, T.; Rendon, A.; Riesgo-Ferreiro, P.; Rogers, T.; Ryten, M.; Savage, K.; Sawant, K.; Scott, R. H.; Siddiq, A.; Sieghart, A.; Smith, K. R.; Sosinsky, A.; Spooner, W.; Stevens, H. E.; Stuckey, A.; Sultana, R.; Thomas, E. R. A.; Thompson, S. R.; Tregidgo, C.; Tucci, A.; Walsh, E.; Watters, S. A.; Welland, M. J.; Williams, E.; Witkowska, K.; Wood, S. M.; Zarowiecki, M.; Marschall, Susan; Lengger, Christoph; Maier, Holger; Seisenberger, Claudia; Buerger, Antje; Kuehn, Ralf; Schick, Joel; Hoerlein, Andreas; Oritz, Oskar; Giesert, Florian; Beig, Joachim; Kenyon, Janet; Codner, Gemma; Fray, Martin; Johnson, Sara J.; Cleak, James; Szoke-Kovacs, Zsombor; Lafont, David; Vancollie, Valerie E.; McLaren, Robbie S. B.; Hughes-Hallett, Lena; Rowley, Christine; Sanderson, Emma; Galli, Antonella; Tuck, Elizabeth; Green, Angela; Tudor, Catherine; Siragher, Emma; Dabrowska, Monika; Mazzeo, Cecilia Icoresi; Griffiths, Mark; Gannon, David; Doe, Brendan; Cockle, Nicola; Kirton, Andrea; Bottomley, Joanna; Ingle, Catherine; Ryder, Edward; Gleeson, Diane; Ramirez-Solis, Ramiro; Birling, Marie-Christine; Pavlovic, Guillaume; Ayadi, Abdel; Hamid, Meziane; About, Ghina Bou; Champy, Marie-France; Jacobs, Hugues; Wendling, Olivia; Leblanc, Sophie; Vasseur, Laurent; Chesler, Elissa J.; Kumar, Vivek; White, Jacqueline K.; Svenson, Karen L.; Wiegand, Jean-Paul; Anderson, Laura L.; Wilcox, Troy; Clark, James; Ryan, Jennifer; Denegre, James; Stearns, Tim; Philip, Vivek; Witmeyer, Catherine; Bates, Lindsay; Seavey, Zachary; Stanley, Pamela; Willet, Amelia; Roper, Willson; Creed, Julie; Moore, Michayla; Dorr, Alex; Fraungruber, Pamelia; Presby, Rose; Mckay, Matthew; Nguyen-Bresinsky, Dong; Goodwin, Leslie; Urban, Rachel; Kane, Coleen分享收藏Clinical and genetic variability in children with partial albinismSCIENTIFIC REPORTS2019-11-1227OAAICampbell, Patrick; Ellingford, Jamie M.; Parry, Neil R. A.; Fletcher, Tracy; Ramsden, Simon C.; Gale, Theodora; Hall, Georgina; Smith, Katherine; Kasperaviciute, Dalia; Thomas, Ellen; Lloyd, I. Chris; Douzgou, Sofia; Clayton-Smith, Jill; Biswas, Susmito; Ashworth, Jane L.; Black, Graeme C. M.; Sergouniotis, Panagiotis I.
SCIENTIFIC REPORTSIF3.9
2019-11-1227OAAICampbell, Patrick; Ellingford, Jamie M.; Parry, Neil R. A.; Fletcher, Tracy; Ramsden, Simon C.; Gale, Theodora; Hall, Georgina; Smith, Katherine; Kasperaviciute, Dalia; Thomas, Ellen; Lloyd, I. Chris; Douzgou, Sofia; Clayton-Smith, Jill; Biswas, Susmito; Ashworth, Jane L.; Black, Graeme C. M.; Sergouniotis, Panagiotis I.分享收藏PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panelsNATURE GENETICS2019-11-01299Martin, Antonio Rueda; Williams, Eleanor; Foulger, Rebecca E.; Leigh, Sarah; Daugherty, Louise C.; Niblock, Olivia; Leong, Ivone U. S.; Smith, Katherine R.; Gerasimenko, Oleg; Haraldsdottir, Eik; Thomas, Ellen; Scott, Richard H.; Baple, Emma; Tucci, Arianna; Brittain, Helen; de Burca, Anna; Ibanez, Kristina; Kasperaviciute, Dalia; Smedley, Damian; Caulfield, Mark; Rendon, Augusto; McDonagh, Ellen M.
NATURE GENETICSIF31.8
2019-11-01299PREAI
Martin, Antonio Rueda; Williams, Eleanor; Foulger, Rebecca E.; Leigh, Sarah; Daugherty, Louise C.; Niblock, Olivia; Leong, Ivone U. S.; Smith, Katherine R.; Gerasimenko, Oleg; Haraldsdottir, Eik; Thomas, Ellen; Scott, Richard H.; Baple, Emma; Tucci, Arianna; Brittain, Helen; de Burca, Anna; Ibanez, Kristina; Kasperaviciute, Dalia; Smedley, Damian; Caulfield, Mark; Rendon, Augusto; McDonagh, Ellen M.分享收藏Genetic architecture of subcortical brain structures in 38,851 individuals38,851个体皮层下大脑结构的遗传结构NATURE GENETICS2019-10-21172OAAISatizabal, Claudia L.; Adams, Hieab H. H.; Hibar, Derrek P.; White, Charles C.; Knol, Maria J.; Stein, Jason L.; Scholz, Markus; Sargurupremraj, Muralidharan; Jahanshad, Neda; Roshchupkin, Gennady, V; Smith, Albert, V; Bis, Joshua C.; Jian, Xueqiu; Luciano, Michelle; Hofer, Edith; Teumer, Alexander; van der Lee, Sven J.; Yang, Jingyun; Yanek, Lisa R.; Lee, Tom, V; Li, Shuo; Hu, Yanhui; Koh, Jia Yu; Eicher, John D.; Desrivieres, Sylvane; Arias-Vasquez, Alejandro; Chauhan, Ganesh; Athanasiu, Lavinia; Rentera, Miguel E.; Kim, Sungeun; Hoehn, David; Armstrong, Nicola J.; Chen, Qiang; Holmes, Avram J.; den Braber, Anouk; Kloszewska, Iwona; Andersson, Micael; Espeseth, Thomas; Grimm, Oliver; Abramovic, Lucija; Alhusaini, Saud; Milaneschi, Yuri; Papmeyer, Martina; Axelsson, Tomas; Ehrlich, Stefan; Roiz-Santianez, Roberto; Kraemer, Bernd; Haberg, Asta K.; Jones, Hannah J.; Pike, G. Bruce; Stein, Dan J.; Stevens, Allison; Bralten, Janita; Vernooij, Meike W.; Harris, Tamara B.; Filippi, Irina; Witte, A. Veronica; Guadalupe, Tulio; Wittfeld, Katharina; Mosley, Thomas H.; Becker, James T.; Nhat Trung Doan; Hagenaars, Saskia P.; Saba, Yasaman; Cuellar-Partida, Gabriel; Amin, Najaf; Hilal, Saima; Nho, Kwangsik; Mirza-Schreiber, Nazanin; Arfanakis, Konstantinos; Becker, Diane M.; Ames, David; Goldman, Aaron L.; Lee, Phil H.; Boomsma, Dorret, I; Lovestone, Simon; Giddaluru, Sudheer; Le Hellard, Stephanie; Mattheisen, Manuel; Bohlken, Marc M.; Kasperaviciute, Dalia; Schmaal, Lianne; Lawrie, Stephen M.; Agartz, Ingrid; Walton, Esther; Tordesillas-Gutierrez, Diana; Davies, Gareth E.; Shin, Jean; Ipser, Jonathan C.; Vinke, Louis N.; Hoogman, Martine; Jia, Tianye; Burkhardt, Ralph; Klein, Marieke; Crivello, Fabrice; Janowitz, Deborah; Carmichael, Owen; Haukvik, Unn K.; Aribisala, Benjamin S.; Schmidt, Helena; Strike, Lachlan T.; Cheng, Ching-Yu; Risacher, Shannon L.; Puetz, Benno; Fleischman, Debra A.; Assareh, Amelia A.; Mattay, Venkata S.; Buckner, Randy L.; Mecocci, Patrizia; Dale, Anders M.; Cichon, Sven; Boks, Marco P.; Matarin, Mar; Penninx, Brenda W. J. H.; Calhoun, Vince D.; Chakravarty, M. Mallar; Marquand, Andre F.; Macare, Christine; Masouleh, Shahrzad Kharabian; Oosterlaan, Jaap; Amouyel, Philippe; Hegenscheid, Katrin; Rotter, Jerome, I; Schork, Andrew J.; Liewald, David C. M.; de Zubicaray, Greig, I; Wong, Tien Yin; Shen, Li; Saemann, Philipp G.; Brodaty, Henry; Roffman, Joshua L.; de Geus, Eco J. C.; Tsolaki, Magda; Erk, Susanne; van Eijk, Kristel R.; Cavalleri, Gianpiero L.; van der Wee, Nic J. A.; McIntosh, Andrew M.; Gollub, Randy L.; Bulayeva, Kazima B.; Bernard, Manon; Richards, Jennifer S.; Himali, Jayandra J.; Loeffler, Markus; Rommelse, Nanda; Hoffmann, Wolfgang; Westlye, Lars T.; Hernandez, Maria C. Valdes; Hansell, Narelle K.; van Erp, Theo G. M.; Wolf, Christiane; Kwok, John B. J.; Vellas, Bruno; Heinz, Andreas; Loohuis, Loes M. Olde; Delanty, Norman; Ho, Beng-Choon; Ching, Christopher R. K.; Shumskaya, Elena; Singh, Baljeet; Hofman, Albert; van der Meer, Dennis; Homuth, Georg; Psaty, Bruce M.; Bastin, Mark E.; Montgomery, Grant W.; Foroud, Tatiana M.; Reppermund, Simone; Hottenga, Jouke-Jan; Simmons, Andrew; Meyer-Lindenberg, Andreas; Cahn, Wiepke; Whelan, Christopher D.; van Donkelaar, Marjolein M. J.; Yang, Qiong; Hosten, Norbert; Green, Robert C.; Thalamuthu, Anbupalam; Mohnke, Sebastian; Pol, Hilleke E. Hulshoff; Lin, Honghuang; Jack, Clifford R., Jr.; Schofield, Peter R.; Muehleisen, Thomas W.; Maillard, Pauline; Potkin, Steven G.; Wen, Wei; Fletcher, Evan; Toga, Arthur W.; Gruber, Oliver; Huentelman, Matthew; Smith, George Davey; Launer, Lenore J.; Nyberg, Lars; Jonsson, Erik G.; Crespo-Facorro, Benedicto; Koen, Nastassja; Greve, Douglas N.; Uitterlinden, Andre G.; Weinberger, Daniel R.; Steen, Vidar M.; Fedko, Iryna O.; Groenewold, Nynke A.; Niessen, Wiro J.; Toro, Roberto; Tzourio, Christophe; Longstreth, William T., Jr.; Ikram, M. Kamran; Smoller, Jordan W.; van Tol, Marie-Jose; Sussmann, Jessika E.; Paus, Tomas; Lemaitre, Herve; Schroeter, Matthias L.; Mazoyer, Bernard; Andreassen, Ole A.; Holsboer, Florian; Depondt, Chantal; Veltman, Dick J.; Turner, Jessica A.; Pausova, Zdenka; Schumann, Gunter; van Rooij, Daan; Djurovic, Srdjan; Deary, Ian J.; McMahon, Katie L.; Mueller-Myhsok, Bertram; Brouwer, Rachel M.; Soininen, Hilkka; Pandolfo, Massimo; Wassink, Thomas H.; Cheung, Joshua W.; Wolfers, Thomas; Martinot, Jean-Luc; Zwiers, Marcel P.; Nauck, Matthias; Melle, Ingrid; Martin, Nicholas G.; Kanai, Ryota; Westman, Eric; Kahn, Rene S.; Sisodiya, Sanjay M.; White, Tonya; Saremi, Arvin; van Bokhoven, Hans; Brunner, Han G.; Voelzke, Henry; Wright, Margaret J.; van't Ent, Dennis; Noethen, Markus M.; Ophoff, Roel A.; Buitelaar, Jan K.; Fernandez, Guilln; Sachdev, Perminder S.; Rietschel, Marcella; van Haren, Neeltje E. M.; Fisher, Simon E.; Beiser, Alexa S.; Francks, Clyde; Saykin, Andrew J.; Mather, Karen A.; Romanczuk-Seiferth, Nina; Hartman, Catharina A.; DeStefano, Anita L.; Heslenfeld, Dirk J.; Weiner, Michael W.; Walter, Henrik; Hoekstra, Pieter J.; Nyquist, Paul A.; Franke, Barbara; Bennett, David A.; Grabe, Hans J.; Johnson, Andrew D.; Chen, Christopher; van Duijn, Cornelia M.; Lopez, Oscar L.; Fornage, Myriam; Wardlaw, Joanna M.; Schmidt, Reinhold; DeCarli, Charles; De Jager, Philip L.; Villringer, Arno; Debette, Stephanie; Gudnason, Vilmundur; Medland, Sarah E.; Shulman, Joshua M.; Thompson, Paul M.; Seshadri, Sudha; Ikram, M. Arfan
NATURE GENETICSIF31.8
2019-10-21172OAAISatizabal, Claudia L.; Adams, Hieab H. H.; Hibar, Derrek P.; White, Charles C.; Knol, Maria J.; Stein, Jason L.; Scholz, Markus; Sargurupremraj, Muralidharan; Jahanshad, Neda; Roshchupkin, Gennady, V; Smith, Albert, V; Bis, Joshua C.; Jian, Xueqiu; Luciano, Michelle; Hofer, Edith; Teumer, Alexander; van der Lee, Sven J.; Yang, Jingyun; Yanek, Lisa R.; Lee, Tom, V; Li, Shuo; Hu, Yanhui; Koh, Jia Yu; Eicher, John D.; Desrivieres, Sylvane; Arias-Vasquez, Alejandro; Chauhan, Ganesh; Athanasiu, Lavinia; Rentera, Miguel E.; Kim, Sungeun; Hoehn, David; Armstrong, Nicola J.; Chen, Qiang; Holmes, Avram J.; den Braber, Anouk; Kloszewska, Iwona; Andersson, Micael; Espeseth, Thomas; Grimm, Oliver; Abramovic, Lucija; Alhusaini, Saud; Milaneschi, Yuri; Papmeyer, Martina; Axelsson, Tomas; Ehrlich, Stefan; Roiz-Santianez, Roberto; Kraemer, Bernd; Haberg, Asta K.; Jones, Hannah J.; Pike, G. Bruce; Stein, Dan J.; Stevens, Allison; Bralten, Janita; Vernooij, Meike W.; Harris, Tamara B.; Filippi, Irina; Witte, A. Veronica; Guadalupe, Tulio; Wittfeld, Katharina; Mosley, Thomas H.; Becker, James T.; Nhat Trung Doan; Hagenaars, Saskia P.; Saba, Yasaman; Cuellar-Partida, Gabriel; Amin, Najaf; Hilal, Saima; Nho, Kwangsik; Mirza-Schreiber, Nazanin; Arfanakis, Konstantinos; Becker, Diane M.; Ames, David; Goldman, Aaron L.; Lee, Phil H.; Boomsma, Dorret, I; Lovestone, Simon; Giddaluru, Sudheer; Le Hellard, Stephanie; Mattheisen, Manuel; Bohlken, Marc M.; Kasperaviciute, Dalia; Schmaal, Lianne; Lawrie, Stephen M.; Agartz, Ingrid; Walton, Esther; Tordesillas-Gutierrez, Diana; Davies, Gareth E.; Shin, Jean; Ipser, Jonathan C.; Vinke, Louis N.; Hoogman, Martine; Jia, Tianye; Burkhardt, Ralph; Klein, Marieke; Crivello, Fabrice; Janowitz, Deborah; Carmichael, Owen; Haukvik, Unn K.; Aribisala, Benjamin S.; Schmidt, Helena; Strike, Lachlan T.; Cheng, Ching-Yu; Risacher, Shannon L.; Puetz, Benno; Fleischman, Debra A.; Assareh, Amelia A.; Mattay, Venkata S.; Buckner, Randy L.; Mecocci, Patrizia; Dale, Anders M.; Cichon, Sven; Boks, Marco P.; Matarin, Mar; Penninx, Brenda W. J. H.; Calhoun, Vince D.; Chakravarty, M. Mallar; Marquand, Andre F.; Macare, Christine; Masouleh, Shahrzad Kharabian; Oosterlaan, Jaap; Amouyel, Philippe; Hegenscheid, Katrin; Rotter, Jerome, I; Schork, Andrew J.; Liewald, David C. M.; de Zubicaray, Greig, I; Wong, Tien Yin; Shen, Li; Saemann, Philipp G.; Brodaty, Henry; Roffman, Joshua L.; de Geus, Eco J. C.; Tsolaki, Magda; Erk, Susanne; van Eijk, Kristel R.; Cavalleri, Gianpiero L.; van der Wee, Nic J. A.; McIntosh, Andrew M.; Gollub, Randy L.; Bulayeva, Kazima B.; Bernard, Manon; Richards, Jennifer S.; Himali, Jayandra J.; Loeffler, Markus; Rommelse, Nanda; Hoffmann, Wolfgang; Westlye, Lars T.; Hernandez, Maria C. Valdes; Hansell, Narelle K.; van Erp, Theo G. M.; Wolf, Christiane; Kwok, John B. J.; Vellas, Bruno; Heinz, Andreas; Loohuis, Loes M. Olde; Delanty, Norman; Ho, Beng-Choon; Ching, Christopher R. K.; Shumskaya, Elena; Singh, Baljeet; Hofman, Albert; van der Meer, Dennis; Homuth, Georg; Psaty, Bruce M.; Bastin, Mark E.; Montgomery, Grant W.; Foroud, Tatiana M.; Reppermund, Simone; Hottenga, Jouke-Jan; Simmons, Andrew; Meyer-Lindenberg, Andreas; Cahn, Wiepke; Whelan, Christopher D.; van Donkelaar, Marjolein M. J.; Yang, Qiong; Hosten, Norbert; Green, Robert C.; Thalamuthu, Anbupalam; Mohnke, Sebastian; Pol, Hilleke E. Hulshoff; Lin, Honghuang; Jack, Clifford R., Jr.; Schofield, Peter R.; Muehleisen, Thomas W.; Maillard, Pauline; Potkin, Steven G.; Wen, Wei; Fletcher, Evan; Toga, Arthur W.; Gruber, Oliver; Huentelman, Matthew; Smith, George Davey; Launer, Lenore J.; Nyberg, Lars; Jonsson, Erik G.; Crespo-Facorro, Benedicto; Koen, Nastassja; Greve, Douglas N.; Uitterlinden, Andre G.; Weinberger, Daniel R.; Steen, Vidar M.; Fedko, Iryna O.; Groenewold, Nynke A.; Niessen, Wiro J.; Toro, Roberto; Tzourio, Christophe; Longstreth, William T., Jr.; Ikram, M. Kamran; Smoller, Jordan W.; van Tol, Marie-Jose; Sussmann, Jessika E.; Paus, Tomas; Lemaitre, Herve; Schroeter, Matthias L.; Mazoyer, Bernard; Andreassen, Ole A.; Holsboer, Florian; Depondt, Chantal; Veltman, Dick J.; Turner, Jessica A.; Pausova, Zdenka; Schumann, Gunter; van Rooij, Daan; Djurovic, Srdjan; Deary, Ian J.; McMahon, Katie L.; Mueller-Myhsok, Bertram; Brouwer, Rachel M.; Soininen, Hilkka; Pandolfo, Massimo; Wassink, Thomas H.; Cheung, Joshua W.; Wolfers, Thomas; Martinot, Jean-Luc; Zwiers, Marcel P.; Nauck, Matthias; Melle, Ingrid; Martin, Nicholas G.; Kanai, Ryota; Westman, Eric; Kahn, Rene S.; Sisodiya, Sanjay M.; White, Tonya; Saremi, Arvin; van Bokhoven, Hans; Brunner, Han G.; Voelzke, Henry; Wright, Margaret J.; van't Ent, Dennis; Noethen, Markus M.; Ophoff, Roel A.; Buitelaar, Jan K.; Fernandez, Guilln; Sachdev, Perminder S.; Rietschel, Marcella; van Haren, Neeltje E. M.; Fisher, Simon E.; Beiser, Alexa S.; Francks, Clyde; Saykin, Andrew J.; Mather, Karen A.; Romanczuk-Seiferth, Nina; Hartman, Catharina A.; DeStefano, Anita L.; Heslenfeld, Dirk J.; Weiner, Michael W.; Walter, Henrik; Hoekstra, Pieter J.; Nyquist, Paul A.; Franke, Barbara; Bennett, David A.; Grabe, Hans J.; Johnson, Andrew D.; Chen, Christopher; van Duijn, Cornelia M.; Lopez, Oscar L.; Fornage, Myriam; Wardlaw, Joanna M.; Schmidt, Reinhold; DeCarli, Charles; De Jager, Philip L.; Villringer, Arno; Debette, Stephanie; Gudnason, Vilmundur; Medland, Sarah E.; Shulman, Joshua M.; Thompson, Paul M.; Seshadri, Sudha; Ikram, M. Arfan分享收藏Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies全基因组巨型分析确定了16个基因座，并突出了常见癫痫的不同生物学机制NATURE COMMUNICATIONS2018-12-10293OAAIAbou-Khalil, Bassel; Auce, Pauls; Avbersek, Andreja; Bahlo, Melanie; Balding, David J.; Bast, Thomas; Baum, Larry; Becker, Albert J.; Becker, Felicitas; Berghuis, Bianca; Berkovic, Samuel F.; Boysen, Katja E.; Bradfield, Jonathan P.; Brody, Lawrence C.; Buono, Russell J.; Campbell, Ellen; Cascino, Gregory D.; Catarino, Claudia B.; Cavalleri, Gianpiero L.; Cherny, Stacey S.; Chinthapalli, Krishna; Coffey, Alison J.; Compston, Alastair; Coppola, Antonietta; Cossette, Patrick; Craig, John J.; de Haan, Gerrit-Jan; De Jonghe, Peter; de Kovel, Carolien G. F.; Delanty, Norman; Depondt, Chantal; Devinsky, Orrin; Dlugos, Dennis J.; Doherty, Colin P.; Elger, Christian E.; Eriksson, Johan G.; Ferraro, Thomas N.; Feucht, Martha; Francis, Ben; Franke, Andre; French, Jacqueline A.; Freytag, Saskia; Gaus, Verena; Geller, Eric B.; Gieger, Christian; Glauser, Tracy; Glynn, Simon; Goldstein, David B.; Gui, Hongsheng; Guo, Youling; Haas, Kevin F.; Hakonarson, Hakon; Hallmann, Kerstin; Haut, Sheryl; Heinzen, Erin L.; Helbig, Ingo; Hengsbach, Christian; Hjalgrim, Helle; Iacomino, Michele; Ingason, Andres; Jamnadas-Khoda, Jennifer; Johnson, Michael R.; Kalviainen, Reetta; Kantanen, Anne-Mari; Kasperaviciute, Dalia; Trenite, Dorothee Kasteleijn-Nolst; Kirsch, Heidi E.; Knowlton, Robert C.; Koeleman, Bobby P. C.; Krause, Roland; Krenn, Martin; Kunz, Wolfram S.; Kuzniecky, Ruben; Kwan, Patrick; Lal, Dennis; Lau, Yu-Lung; Lehesjoki, Anna-Elina; Lerche, Holger; Leu, Costin; Lieb, Wolfgang; Lindhout, Dick; Lo, Warren D.; Lopes-Cendes, Iscia; Lowenstein, Daniel H.; Malovini, Alberto; Marson, Anthony G.; Mayer, Thomas; McCormack, Mark; Mills, James L.; Mirza, Nasir; Moerzinger, Martina; Moller, Rikke S.; Molloy, Anne M.; Muhle, Hiltrud; Newton, Mark; Ng, Ping-Wing; Noethen, Markus M.; Nuernberg, Peter; O'Brien, Terence J.; Oliver, Karen L.; Palotie, Aarno; Pangilinan, Faith; Peter, Sarah; Petrovski, Slave; Poduri, Annapurna; Privitera, Michael; Radtke, Rodney; Rau, Sarah; Reif, Philipp S.; Reinthaler, Eva M.; Rosenow, Felix; Sander, Josemir W.; Sander, Thomas; Scattergood, Theresa; Schachter, Steven C.; Schankin, Christoph J.; Scheffer, Ingrid E.; Schmitz, Bettina; Schoch, Susanne; Sham, Pak C.; Shih, Jerry J.; Sills, Graeme J.; Sisodiya, Sanjay M.; Slattery, Lisa; Smith, Alexander; Smith, David F.; Smith, Michael C.; Smith, Philip E.; Sonsma, Anja C. M.; Speed, Doug; Sperling, Michael R.; Steinhoff, Bernhard J.; Stephani, Ulrich; Stevelink, Remi; Strauch, Konstantin; Striano, Pasquale; Stroink, Hans; Surges, Rainer; Tan, K. Meng; Thio, Liu Lin; Thomas, G. Neil; Todaro, Marian; Tozzi, Rossana; Vari, Maria S.; Vining, Eileen P. G.; Visscher, Frank; von Spiczak, Sarah; Walley, Nicole M.; Weber, Yvonne G.; Wei, Zhi; Weisenberg, Judith; Whelan, Christopher D.; Widdess-Walsh, Peter; Wolff, Markus; Wolking, Stefan; Yang, Wanling; Zara, Federico; Zimprich, Fritz
NATURE COMMUNICATIONSIF15.7
2018-12-10293OAAIAbou-Khalil, Bassel; Auce, Pauls; Avbersek, Andreja; Bahlo, Melanie; Balding, David J.; Bast, Thomas; Baum, Larry; Becker, Albert J.; Becker, Felicitas; Berghuis, Bianca; Berkovic, Samuel F.; Boysen, Katja E.; Bradfield, Jonathan P.; Brody, Lawrence C.; Buono, Russell J.; Campbell, Ellen; Cascino, Gregory D.; Catarino, Claudia B.; Cavalleri, Gianpiero L.; Cherny, Stacey S.; Chinthapalli, Krishna; Coffey, Alison J.; Compston, Alastair; Coppola, Antonietta; Cossette, Patrick; Craig, John J.; de Haan, Gerrit-Jan; De Jonghe, Peter; de Kovel, Carolien G. F.; Delanty, Norman; Depondt, Chantal; Devinsky, Orrin; Dlugos, Dennis J.; Doherty, Colin P.; Elger, Christian E.; Eriksson, Johan G.; Ferraro, Thomas N.; Feucht, Martha; Francis, Ben; Franke, Andre; French, Jacqueline A.; Freytag, Saskia; Gaus, Verena; Geller, Eric B.; Gieger, Christian; Glauser, Tracy; Glynn, Simon; Goldstein, David B.; Gui, Hongsheng; Guo, Youling; Haas, Kevin F.; Hakonarson, Hakon; Hallmann, Kerstin; Haut, Sheryl; Heinzen, Erin L.; Helbig, Ingo; Hengsbach, Christian; Hjalgrim, Helle; Iacomino, Michele; Ingason, Andres; Jamnadas-Khoda, Jennifer; Johnson, Michael R.; Kalviainen, Reetta; Kantanen, Anne-Mari; Kasperaviciute, Dalia; Trenite, Dorothee Kasteleijn-Nolst; Kirsch, Heidi E.; Knowlton, Robert C.; Koeleman, Bobby P. C.; Krause, Roland; Krenn, Martin; Kunz, Wolfram S.; Kuzniecky, Ruben; Kwan, Patrick; Lal, Dennis; Lau, Yu-Lung; Lehesjoki, Anna-Elina; Lerche, Holger; Leu, Costin; Lieb, Wolfgang; Lindhout, Dick; Lo, Warren D.; Lopes-Cendes, Iscia; Lowenstein, Daniel H.; Malovini, Alberto; Marson, Anthony G.; Mayer, Thomas; McCormack, Mark; Mills, James L.; Mirza, Nasir; Moerzinger, Martina; Moller, Rikke S.; Molloy, Anne M.; Muhle, Hiltrud; Newton, Mark; Ng, Ping-Wing; Noethen, Markus M.; Nuernberg, Peter; O'Brien, Terence J.; Oliver, Karen L.; Palotie, Aarno; Pangilinan, Faith; Peter, Sarah; Petrovski, Slave; Poduri, Annapurna; Privitera, Michael; Radtke, Rodney; Rau, Sarah; Reif, Philipp S.; Reinthaler, Eva M.; Rosenow, Felix; Sander, Josemir W.; Sander, Thomas; Scattergood, Theresa; Schachter, Steven C.; Schankin, Christoph J.; Scheffer, Ingrid E.; Schmitz, Bettina; Schoch, Susanne; Sham, Pak C.; Shih, Jerry J.; Sills, Graeme J.; Sisodiya, Sanjay M.; Slattery, Lisa; Smith, Alexander; Smith, David F.; Smith, Michael C.; Smith, Philip E.; Sonsma, Anja C. M.; Speed, Doug; Sperling, Michael R.; Steinhoff, Bernhard J.; Stephani, Ulrich; Stevelink, Remi; Strauch, Konstantin; Striano, Pasquale; Stroink, Hans; Surges, Rainer; Tan, K. Meng; Thio, Liu Lin; Thomas, G. Neil; Todaro, Marian; Tozzi, Rossana; Vari, Maria S.; Vining, Eileen P. G.; Visscher, Frank; von Spiczak, Sarah; Walley, Nicole M.; Weber, Yvonne G.; Wei, Zhi; Weisenberg, Judith; Whelan, Christopher D.; Widdess-Walsh, Peter; Wolff, Markus; Wolking, Stefan; Yang, Wanling; Zara, Federico; Zimprich, Fritz分享收藏BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiencyBACH2免疫缺陷说明了超级增强子和单倍体不足之间的关联NATURE IMMUNOLOGY2017-05-22110OAAIAfzali, Behdad; Gronholm, Juha; Vandrovcova, Jana; O'Brien, Charlotte; Sun, Hong-Wei; Vanderleyden, Ine; Davis, Fred P.; Khoder, Ahmad; Zhang, Yu; Hegazy, Ahmed N.; Villarino, Alejandro V.; Palmer, Ira W.; Kaufman, Joshua; Watts, Norman R.; Kazemian, Majid; Kamenyeva, Olena; Keith, Julia; Sayed, Anwar; Kasperaviciute, Dalia; Mueller, Michael; Hughes, Jason D.; Fuss, Ivan J.; Sadiyah, Mohammed F.; Montgomery-Recht, Kim; McElwee, Joshua; Restifo, Nicholas P.; Strober, Warren; Linterman, Michelle A.; Wingfield, Paul T.; Uhlig, Holm H.; Roychoudhuri, Rahul; Aitman, Timothy J.; Kelleher, Peter; Lenardo, Michael J.; O'Shea, John J.; Cooper, Nichola; Laurence, Arian D. J.
NATURE IMMUNOLOGYIF27.6
2017-05-22110OAAIAfzali, Behdad; Gronholm, Juha; Vandrovcova, Jana; O'Brien, Charlotte; Sun, Hong-Wei; Vanderleyden, Ine; Davis, Fred P.; Khoder, Ahmad; Zhang, Yu; Hegazy, Ahmed N.; Villarino, Alejandro V.; Palmer, Ira W.; Kaufman, Joshua; Watts, Norman R.; Kazemian, Majid; Kamenyeva, Olena; Keith, Julia; Sayed, Anwar; Kasperaviciute, Dalia; Mueller, Michael; Hughes, Jason D.; Fuss, Ivan J.; Sadiyah, Mohammed F.; Montgomery-Recht, Kim; McElwee, Joshua; Restifo, Nicholas P.; Strober, Warren; Linterman, Michelle A.; Wingfield, Paul T.; Uhlig, Holm H.; Roychoudhuri, Rahul; Aitman, Timothy J.; Kelleher, Peter; Lenardo, Michael J.; O'Shea, John J.; Cooper, Nichola; Laurence, Arian D. J.分享收藏Novel genetic loci associated with hippocampal volume与海马体积相关的新遗传位点NATURE COMMUNICATIONS2017-01-18217OAAIHibar, Derrek P.; Adams, Hieab H. H.; Jahanshad, Neda; Chauhan, Ganesh; Stein, Jason L.; Hofer, Edith; Renteria, Miguel E.; Bis, Joshua C.; Arias-Vasquez, Alejandro; Ikram, M. Kamran; Desrivieres, Sylvane; Vernooij, Meike W.; Abramovic, Lucija; Alhusaini, Saud; Amin, Najaf; Andersson, Micael; Arfanakis, Konstantinos; Aribisala, Benjamin S.; Armstrong, Nicola J.; Athanasiu, Lavinia; Axelsson, Tomas; Beecham, Ashley H.; Beiser, Alexa; Bernard, Manon; Blanton, Susan H.; Bohlken, Marc M.; Boks, Marco P.; Bralten, Janita; Brickman, Adam M.; Carmichael, Owen; Chakravarty, M. Mallar; Chen, Qiang; Ching, Christopher R. K.; Chouraki, Vincent; Cuellar-Partida, Gabriel; Crivello, Fabrice; Den Braber, Anouk; Nhat Trung Doan; Ehrlich, Stefan; Giddaluru, Sudheer; Goldman, Aaron L.; Gottesman, Rebecca F.; Grimm, Oliver; Griswold, Michael E.; Guadalupe, Tulio; Gutman, Boris A.; Hass, Johanna; Haukvik, Unn K.; Hoehn, David; Holmes, Avram J.; Hoogman, Martine; Janowitz, Deborah; Jia, Tianye; Jorgensen, Kjetil N.; Karbalai, Nazanin; Kasperaviciute, Dalia; Kim, Sungeun; Klein, Marieke; Kraemer, Bernd; Lee, Phil H.; Liewald, David C. M.; Lopez, Lorna M.; Luciano, Michelle; Macare, Christine; Marquand, Andre F.; Matarin, Mar; Mather, Karen A.; Mattheisen, Manuel; McKay, David R.; Milaneschi, Yuri; Maniega, Susana Munoz; Nho, Kwangsik; Nugent, Allison C.; Nyquist, Paul; Loohuis, Loes M. Olde; Oosterlaan, Jaap; Papmeyer, Martina; Pirpamer, Lukas; Puetz, Benno; Ramasamy, Adaikalavan; Richards, Jennifer S.; Risacher, Shannon L.; Roiz-Santianez, Roberto; Rommelse, Nanda; Ropele, Stefan; Rose, Emma J.; Royle, Natalie A.; Rundek, Tatjana; Saemann, Philipp G.; Saremi, Arvin; Satizabal, Claudia L.; Schmaal, Lianne; Schork, Andrew J.; Shen, Li; Shin, Jean; Shumskaya, Elena; Smith, Albert V.; Sprooten, Emma; Strike, Lachlan T.; Teumer, Alexander; Tordesillas-Gutierrez, Diana; Toro, Roberto; Trabzuni, Daniah; Trompet, Stella; Vaidya, Dhananjay; Van der Grond, Jeroen; Van der Lee, Sven J.; Van der Meer, Dennis; Van Donkelaar, Marjolein M. J.; Van Eijk, Kristel R.; Van Erp, Theo G. M.; Van Rooij, Daan; Walton, Esther; Westlye, Lars T.; Whelan, Christopher D.; Windham, Beverly G.; Winkler, Anderson M.; Wittfeld, Katharina; Woldehawariat, Girma; Wolf, Christiane; Wolfers, Thomas; Yanek, Lisa R.; Yang, Jingyun; Zijdenbos, Alex; Zwiers, Marcel P.; Agartz, Ingrid; Almasy, Laura; Ames, David; Amouyel, Philippe; Andreassen, Ole A.; Arepalli, Sampath; Assareh, Amelia A.; Barral, Sandra; Bastin, Mark E.; Becker, Diane M.; Becker, James T.; Bennett, David A.; Blangero, John; van Bokhoven, Hans; Boomsma, Dorret I.; Brodaty, Henry; Brouwer, Rachel M.; Brunner, Han G.; Buckner, Randy L.; Buitelaar, Jan K.; Bulayeva, Kazima B.; Cahn, Wiepke; Calhoun, Vince D.; Cannon, Dara M.; Cavalleri, Gianpiero L.; Cheng, Ching-Yu; Cichon, Sven; Cookson, Mark R.; Corvin, Aiden; Crespo-Facorro, Benedicto; Curran, Joanne E.; Czisch, Michael; Dale, Anders M.; Davies, Gareth E.; De Craen, Anton J. M.; De Geus, Eco J. C.; De Jager, Philip L.; De Zubicaray, Greig I.; Deary, Ian J.; Debette, Stephanie; DeCarli, Charles; Delanty, Norman; Depondt, Chantal; DeStefano, Anita; Dillman, Allissa; Djurovic, Srdjan; Donohoe, Gary; Drevets, Wayne C.; Duggirala, Ravi; Dyer, Thomas D.; Enzinger, Christian; Erk, Susanne; Espeseth, Thomas; Fedko, Iryna O.; Fernandez, Guillen; Ferrucci, Luigi; Fisher, Simon E.; Fleischman, Debra A.; Ford, Ian; Fornage, Myriam; Foroud, Tatiana M.; Fox, Peter T.; Francks, Clyde; Fukunaga, Masaki; Gibbs, J. Raphael; Glahn, David C.; Gollub, Randy L.; Goring, Harald H. H.; Green, Robert C.; Gruber, Oliver; Gudnason, Vilmundur; Guelfi, Sebastian; Haberg, Asta K.; Hansell, Narelle K.; Hardy, John; Hartman, Catharina A.; Hashimoto, Ryota; Hegenscheid, Katrin; Heinz, Andreas; Le Hellard, Stephanie; Hernandez, Dena G.; Heslenfeld, Dirk J.; Ho, Beng-Choon; Hoekstra, Pieter J.; Hoffmann, Wolfgang; Hofman, Albert; Holsboer, Florian; Homuth, Georg; Hosten, Norbert; Hottenga, Jouke-Jan; Huentelman, Matthew; Pol, Hilleke E. Hulshoff; Ikeda, Masashi; Jack, Clifford R., Jr.; Jenkinson, Mark; Johnson, Robert; Joensson, Erik G.; Jukema, J. Wouter; Kahn, Rene S.; Kanai, Ryota; Kloszewska, Iwona; Knopman, David S.; Kochunov, Peter; Kwok, John B.; Lawrie, Stephen M.; Lemaitre, Herve; Liu, Xinmin; Longo, Dan L.; Lopez, Oscar L.; Lovestone, Simon; Martinez, Oliver; Martinot, Jean-Luc; Mattay, Venkata S.; McDonald, Colm; McIntosh, Andrew M.; McMahon, Francis J.; McMahon, Katie L.; Mecocci, Patrizia; Melle, Ingrid; Meyer-Lindenberg, Andreas; Mohnke, Sebastian; Montgomery, Grant W.; Morris, Derek W.; Mosley, Thomas H.; Muhleisen, Thomas W.; Mueller-Myhsok, Bertram; Nalls, Michael A.; Nauck, Matthias; Nichols, Thomas E.; Niessen, Wiro J.; Nothen, Markus M.; Nyberg, Lars; Ohi, Kazutaka; Olvera, Rene L.; Ophoff, Roel A.; Pandolfo, Massimo; Paus, Tomas; Pausova, Zdenka; Penninx, Brenda W. J. H.; Pike, G. Bruce; Potkin, Steven G.; Psaty, Bruce M.; Reppermund, Simone; Rietschel, Marcella; Roffman, Joshua L.; Romanczuk-Seiferth, Nina; Rotter, Jerome I.; Ryten, Mina; Sacco, Ralph L.; Sachdev, Perminder S.; Saykin, Andrew J.; Schmidt, Reinhold; Schmidt, Helena; Schofield, Peter R.; Sigursson, Sigurdur; Simmons, Andrew; Singleton, Andrew; Sisodiya, Sanjay M.; Smith, Colin; Smoller, Jordan W.; Soininen, Hilkka; Steen, Vidar M.; Stott, David J.; Sussmann, Jessika E.; Thalamuthu, Anbupalam; Toga, Arthur W.; Traynor, Bryan J.; Troncoso, Juan; Tsolaki, Magda; Tzourio, Christophe; Uitterlinden, Andre G.; Hernandez, Maria C. Valdes; Van der Brug, Marcel; van der Lugt, Aad; van der Wee, Nic J. A.; Van Haren, Neeltje E. M.; van't Ent, Dennis; Van Tol, Marie-Jose; Vardarajan, Badri N.; Vellas, Bruno; Veltman, Dick J.; Voelzke, Henry; Walter, Henrik; Wardlaw, Joanna M.; Wassink, Thomas H.; Weale, Michael E.; Weinberger, Daniel R.; Weiner, Michael W.; Wen, Wei; Westman, Eric; White, Tonya; Wong, Tien Y.; Wright, Clinton B.; Zielke, Ronald H.; Zonderman, Alan B.; Martin, Nicholas G.; Van Duijn, Cornelia M.; Wright, Margaret J.; Longstreth, W. T.; Schumann, Gunter; Grabe, Hans J.; Franke, Barbara; Launer, Lenore J.; Medland, Sarah E.; Seshadri, Sudha; Thompson, Paul M.; Ikram, M. Arfan
NATURE COMMUNICATIONSIF15.7
2017-01-18217OAAIHibar, Derrek P.; Adams, Hieab H. H.; Jahanshad, Neda; Chauhan, Ganesh; Stein, Jason L.; Hofer, Edith; Renteria, Miguel E.; Bis, Joshua C.; Arias-Vasquez, Alejandro; Ikram, M. Kamran; Desrivieres, Sylvane; Vernooij, Meike W.; Abramovic, Lucija; Alhusaini, Saud; Amin, Najaf; Andersson, Micael; Arfanakis, Konstantinos; Aribisala, Benjamin S.; Armstrong, Nicola J.; Athanasiu, Lavinia; Axelsson, Tomas; Beecham, Ashley H.; Beiser, Alexa; Bernard, Manon; Blanton, Susan H.; Bohlken, Marc M.; Boks, Marco P.; Bralten, Janita; Brickman, Adam M.; Carmichael, Owen; Chakravarty, M. Mallar; Chen, Qiang; Ching, Christopher R. K.; Chouraki, Vincent; Cuellar-Partida, Gabriel; Crivello, Fabrice; Den Braber, Anouk; Nhat Trung Doan; Ehrlich, Stefan; Giddaluru, Sudheer; Goldman, Aaron L.; Gottesman, Rebecca F.; Grimm, Oliver; Griswold, Michael E.; Guadalupe, Tulio; Gutman, Boris A.; Hass, Johanna; Haukvik, Unn K.; Hoehn, David; Holmes, Avram J.; Hoogman, Martine; Janowitz, Deborah; Jia, Tianye; Jorgensen, Kjetil N.; Karbalai, Nazanin; Kasperaviciute, Dalia; Kim, Sungeun; Klein, Marieke; Kraemer, Bernd; Lee, Phil H.; Liewald, David C. M.; Lopez, Lorna M.; Luciano, Michelle; Macare, Christine; Marquand, Andre F.; Matarin, Mar; Mather, Karen A.; Mattheisen, Manuel; McKay, David R.; Milaneschi, Yuri; Maniega, Susana Munoz; Nho, Kwangsik; Nugent, Allison C.; Nyquist, Paul; Loohuis, Loes M. Olde; Oosterlaan, Jaap; Papmeyer, Martina; Pirpamer, Lukas; Puetz, Benno; Ramasamy, Adaikalavan; Richards, Jennifer S.; Risacher, Shannon L.; Roiz-Santianez, Roberto; Rommelse, Nanda; Ropele, Stefan; Rose, Emma J.; Royle, Natalie A.; Rundek, Tatjana; Saemann, Philipp G.; Saremi, Arvin; Satizabal, Claudia L.; Schmaal, Lianne; Schork, Andrew J.; Shen, Li; Shin, Jean; Shumskaya, Elena; Smith, Albert V.; Sprooten, Emma; Strike, Lachlan T.; Teumer, Alexander; Tordesillas-Gutierrez, Diana; Toro, Roberto; Trabzuni, Daniah; Trompet, Stella; Vaidya, Dhananjay; Van der Grond, Jeroen; Van der Lee, Sven J.; Van der Meer, Dennis; Van Donkelaar, Marjolein M. J.; Van Eijk, Kristel R.; Van Erp, Theo G. M.; Van Rooij, Daan; Walton, Esther; Westlye, Lars T.; Whelan, Christopher D.; Windham, Beverly G.; Winkler, Anderson M.; Wittfeld, Katharina; Woldehawariat, Girma; Wolf, Christiane; Wolfers, Thomas; Yanek, Lisa R.; Yang, Jingyun; Zijdenbos, Alex; Zwiers, Marcel P.; Agartz, Ingrid; Almasy, Laura; Ames, David; Amouyel, Philippe; Andreassen, Ole A.; Arepalli, Sampath; Assareh, Amelia A.; Barral, Sandra; Bastin, Mark E.; Becker, Diane M.; Becker, James T.; Bennett, David A.; Blangero, John; van Bokhoven, Hans; Boomsma, Dorret I.; Brodaty, Henry; Brouwer, Rachel M.; Brunner, Han G.; Buckner, Randy L.; Buitelaar, Jan K.; Bulayeva, Kazima B.; Cahn, Wiepke; Calhoun, Vince D.; Cannon, Dara M.; Cavalleri, Gianpiero L.; Cheng, Ching-Yu; Cichon, Sven; Cookson, Mark R.; Corvin, Aiden; Crespo-Facorro, Benedicto; Curran, Joanne E.; Czisch, Michael; Dale, Anders M.; Davies, Gareth E.; De Craen, Anton J. M.; De Geus, Eco J. C.; De Jager, Philip L.; De Zubicaray, Greig I.; Deary, Ian J.; Debette, Stephanie; DeCarli, Charles; Delanty, Norman; Depondt, Chantal; DeStefano, Anita; Dillman, Allissa; Djurovic, Srdjan; Donohoe, Gary; Drevets, Wayne C.; Duggirala, Ravi; Dyer, Thomas D.; Enzinger, Christian; Erk, Susanne; Espeseth, Thomas; Fedko, Iryna O.; Fernandez, Guillen; Ferrucci, Luigi; Fisher, Simon E.; Fleischman, Debra A.; Ford, Ian; Fornage, Myriam; Foroud, Tatiana M.; Fox, Peter T.; Francks, Clyde; Fukunaga, Masaki; Gibbs, J. Raphael; Glahn, David C.; Gollub, Randy L.; Goring, Harald H. H.; Green, Robert C.; Gruber, Oliver; Gudnason, Vilmundur; Guelfi, Sebastian; Haberg, Asta K.; Hansell, Narelle K.; Hardy, John; Hartman, Catharina A.; Hashimoto, Ryota; Hegenscheid, Katrin; Heinz, Andreas; Le Hellard, Stephanie; Hernandez, Dena G.; Heslenfeld, Dirk J.; Ho, Beng-Choon; Hoekstra, Pieter J.; Hoffmann, Wolfgang; Hofman, Albert; Holsboer, Florian; Homuth, Georg; Hosten, Norbert; Hottenga, Jouke-Jan; Huentelman, Matthew; Pol, Hilleke E. Hulshoff; Ikeda, Masashi; Jack, Clifford R., Jr.; Jenkinson, Mark; Johnson, Robert; Joensson, Erik G.; Jukema, J. Wouter; Kahn, Rene S.; Kanai, Ryota; Kloszewska, Iwona; Knopman, David S.; Kochunov, Peter; Kwok, John B.; Lawrie, Stephen M.; Lemaitre, Herve; Liu, Xinmin; Longo, Dan L.; Lopez, Oscar L.; Lovestone, Simon; Martinez, Oliver; Martinot, Jean-Luc; Mattay, Venkata S.; McDonald, Colm; McIntosh, Andrew M.; McMahon, Francis J.; McMahon, Katie L.; Mecocci, Patrizia; Melle, Ingrid; Meyer-Lindenberg, Andreas; Mohnke, Sebastian; Montgomery, Grant W.; Morris, Derek W.; Mosley, Thomas H.; Muhleisen, Thomas W.; Mueller-Myhsok, Bertram; Nalls, Michael A.; Nauck, Matthias; Nichols, Thomas E.; Niessen, Wiro J.; Nothen, Markus M.; Nyberg, Lars; Ohi, Kazutaka; Olvera, Rene L.; Ophoff, Roel A.; Pandolfo, Massimo; Paus, Tomas; Pausova, Zdenka; Penninx, Brenda W. J. H.; Pike, G. Bruce; Potkin, Steven G.; Psaty, Bruce M.; Reppermund, Simone; Rietschel, Marcella; Roffman, Joshua L.; Romanczuk-Seiferth, Nina; Rotter, Jerome I.; Ryten, Mina; Sacco, Ralph L.; Sachdev, Perminder S.; Saykin, Andrew J.; Schmidt, Reinhold; Schmidt, Helena; Schofield, Peter R.; Sigursson, Sigurdur; Simmons, Andrew; Singleton, Andrew; Sisodiya, Sanjay M.; Smith, Colin; Smoller, Jordan W.; Soininen, Hilkka; Steen, Vidar M.; Stott, David J.; Sussmann, Jessika E.; Thalamuthu, Anbupalam; Toga, Arthur W.; Traynor, Bryan J.; Troncoso, Juan; Tsolaki, Magda; Tzourio, Christophe; Uitterlinden, Andre G.; Hernandez, Maria C. Valdes; Van der Brug, Marcel; van der Lugt, Aad; van der Wee, Nic J. A.; Van Haren, Neeltje E. M.; van't Ent, Dennis; Van Tol, Marie-Jose; Vardarajan, Badri N.; Vellas, Bruno; Veltman, Dick J.; Voelzke, Henry; Walter, Henrik; Wardlaw, Joanna M.; Wassink, Thomas H.; Weale, Michael E.; Weinberger, Daniel R.; Weiner, Michael W.; Wen, Wei; Westman, Eric; White, Tonya; Wong, Tien Y.; Wright, Clinton B.; Zielke, Ronald H.; Zonderman, Alan B.; Martin, Nicholas G.; Van Duijn, Cornelia M.; Wright, Margaret J.; Longstreth, W. T.; Schumann, Gunter; Grabe, Hans J.; Franke, Barbara; Launer, Lenore J.; Medland, Sarah E.; Seshadri, Sudha; Thompson, Paul M.; Ikram, M. Arfan分享收藏Next-Generation Sequencing-Assisted DNA-Based Digital PCR for a Personalized Approach to the Detection and Quantification of Residual Disease in Chronic Myeloid Leukemia Patients2016-03-0133OAAIAlikian, Mary; Ellery, Peter; Forbes, Martin; Gerrard, Gareth; Kasperaviciute, Dalia; Sosinsky, Alona; Mueller, Michael; Whale, Alexandra S.; Milojkovic, Dragana; Apperley, Jane; Huggett, Jim F.; Foroni, Letizia; Reid, Alistair G.
2016-03-0133OAAIAlikian, Mary; Ellery, Peter; Forbes, Martin; Gerrard, Gareth; Kasperaviciute, Dalia; Sosinsky, Alona; Mueller, Michael; Whale, Alexandra S.; Milojkovic, Dragana; Apperley, Jane; Huggett, Jim F.; Foroni, Letizia; Reid, Alistair G.分享收藏The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemiaGENETICS IN MEDICINE2013-12-0160OAAIVandrovcova, Jana; Thomas, Ellen R. A.; Atanur, Santosh S.; Norsworthy, Penny J.; Neuwirth, Clare; Tan, Yvonne; Kasperaviciute, Dalia; Biggs, Jennifer; Game, Laurence; Mueller, Michael; Soutar, Anne K.; Aitman, Timothy J.
GENETICS IN MEDICINEIF6.2
2013-12-0160OAAIVandrovcova, Jana; Thomas, Ellen R. A.; Atanur, Santosh S.; Norsworthy, Penny J.; Neuwirth, Clare; Tan, Yvonne; Kasperaviciute, Dalia; Biggs, Jennifer; Game, Laurence; Mueller, Michael; Soutar, Anne K.; Aitman, Timothy J.分享收藏Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channelMOVEMENT DISORDERS2013-11-1338OAAIMok, Kin Y.; Schneider, Susanne A.; Trabzuni, Daniah; Stamelou, Maria; Edwards, Mark; Kasperaviciute, Dalia; Pickering-Brown, Stuart; Silverdale, Monty; Hardy, John; Bhatia, Kailash P.
MOVEMENT DISORDERSIF7.6
2013-11-1338OAAIMok, Kin Y.; Schneider, Susanne A.; Trabzuni, Daniah; Stamelou, Maria; Edwards, Mark; Kasperaviciute, Dalia; Pickering-Brown, Stuart; Silverdale, Monty; Hardy, John; Bhatia, Kailash P.分享收藏Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1ABRAIN2013-09-06142OAAIKasperaviciute, Dalia; Catarino, Claudia B.; Matarin, Mar; Leu, Costin; Novy, Jan; Tostevin, Anna; Leal, Barbara; Hessel, Ellen V. S.; Hallmann, Kerstin; Hildebrand, Michael S.; Dahl, Hans-Henrik M.; Ryten, Mina; Trabzuni, Daniah; Ramasamy, Adaikalavan; Alhusaini, Saud; Doherty, Colin P.; Dorn, Thomas; Hansen, Joerg; Kraemer, Guenter; Steinhoff, Bernhard J.; Zumsteg, Dominik; Duncan, Susan; Kaelviaeinen, Reetta K.; Eriksson, Kai J.; Kantanen, Anne-Mari; Pandolfo, Massimo; Gruber-Sedlmayr, Ursula; Schlachter, Kurt; Reinthaler, Eva M.; Stogmann, Elisabeth; Zimprich, Fritz; Theatre, Emilie; Smith, Colin; O'Brien, Terence J.; Tan, K. Meng; Petrovski, Slave; Robbiano, Angela; Paravidino, Roberta; Zara, Federico; Striano, Pasquale; Sperling, Michael R.; Buono, Russell J.; Hakonarson, Hakon; Chaves, Joao; Costa, Paulo P.; Silva, Berta M.; da Silva, Antonio M.; de Graan, Pierre N. E.; Koeleman, Bobby P. C.; Becker, Albert; Schoch, Susanne; von Lehe, Marec; Reif, Philipp S.; Rosenow, Felix; Becker, Felicitas; Weber, Yvonne; Lerche, Holger; Roessler, Karl; Buchfelder, Michael; Hamer, Hajo M.; Kobow, Katja; Coras, Roland; Blumcke, Ingmar; Scheffer, Ingrid E.; Berkovic, Samuel F.; Weale, Michael E.; Delanty, Norman; Depondt, Chantal; Cavalleri, Gianpiero L.; Kunz, Wolfram S.; Sisodiya, Sanjay M.
BRAINIF11.7
2013-09-06142OAAIKasperaviciute, Dalia; Catarino, Claudia B.; Matarin, Mar; Leu, Costin; Novy, Jan; Tostevin, Anna; Leal, Barbara; Hessel, Ellen V. S.; Hallmann, Kerstin; Hildebrand, Michael S.; Dahl, Hans-Henrik M.; Ryten, Mina; Trabzuni, Daniah; Ramasamy, Adaikalavan; Alhusaini, Saud; Doherty, Colin P.; Dorn, Thomas; Hansen, Joerg; Kraemer, Guenter; Steinhoff, Bernhard J.; Zumsteg, Dominik; Duncan, Susan; Kaelviaeinen, Reetta K.; Eriksson, Kai J.; Kantanen, Anne-Mari; Pandolfo, Massimo; Gruber-Sedlmayr, Ursula; Schlachter, Kurt; Reinthaler, Eva M.; Stogmann, Elisabeth; Zimprich, Fritz; Theatre, Emilie; Smith, Colin; O'Brien, Terence J.; Tan, K. Meng; Petrovski, Slave; Robbiano, Angela; Paravidino, Roberta; Zara, Federico; Striano, Pasquale; Sperling, Michael R.; Buono, Russell J.; Hakonarson, Hakon; Chaves, Joao; Costa, Paulo P.; Silva, Berta M.; da Silva, Antonio M.; de Graan, Pierre N. E.; Koeleman, Bobby P. C.; Becker, Albert; Schoch, Susanne; von Lehe, Marec; Reif, Philipp S.; Rosenow, Felix; Becker, Felicitas; Weber, Yvonne; Lerche, Holger; Roessler, Karl; Buchfelder, Michael; Hamer, Hajo M.; Kobow, Katja; Coras, Roland; Blumcke, Ingmar; Scheffer, Ingrid E.; Berkovic, Samuel F.; Weale, Michael E.; Delanty, Norman; Depondt, Chantal; Cavalleri, Gianpiero L.; Kunz, Wolfram S.; Sisodiya, Sanjay M.分享收藏