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

Mechanism of age-related accumulation of mitochondrial DNA mutations in human blood

人类血液中线粒体DNA突变随年龄积累的机制

Gupta, Rahul; Durham, Timothy J; Chau, Grant; Uddin, Md Mesbah; Lu, Wenhan; Karczewski, Konrad J; Howrigan, Daniel; Natarajan, Pradeep; Zhou, Wei; Neale, Benjamin M; Mootha, Vamsi K

Principled distillation of UK Biobank phenotype data reveals underlying structure in human variation

对英国生物银行表型数据进行原则性提炼,揭示了人类变异的潜在结构

Carey, Caitlin E; Shafee, Rebecca; Wedow, Robbee; Elliott, Amanda; Palmer, Duncan S; Compitello, John; Kanai, Masahiro; Abbott, Liam; Schultz, Patrick; Karczewski, Konrad J; Bryant, Samuel C; Cusick, Caroline M; Churchhouse, Claire; Howrigan, Daniel P; King, Daniel; Davey Smith, George; Neale, Benjamin M; Walters, Raymond K; Robinson, Elise B

Blended Genome Exome (BGE) as a Cost Efficient Alternative to Deep Whole Genomes or Arrays

混合基因组外显子组测序(BGE)作为一种经济高效的替代方案,可替代深度全基因组测序或芯片测序。

DeFelice, Matthew; Grimsby, Jonna L; Howrigan, Daniel; Yuan, Kai; Chapman, Sinéad B; Stevens, Christine; DeLuca, Samuel; Townsend, Megan; Buxbaum, Joseph; Pericak-Vance, Margaret; Qin, Shengying; Stein, Dan J; Teferra, Solomon; Xavier, Ramnik J; Huang, Hailiang; Martin, Alicia R; Neale, Benjamin M

A blended genome and exome sequencing method captures genetic variation in an unbiased, high-quality, and cost-effective manner

基因组和外显子组混合测序方法能够以无偏倚、高质量且经济高效的方式捕获遗传变异。

Boltz, Toni A; Chu, Benjamin B; Liao, Calwing; Sealock, Julia M; Ye, Robert; Majara, Lerato; Fu, Jack M; Service, Susan; Zhan, Lingyu; Medland, Sarah E; Chapman, Sinéad B; Rubinacci, Simone; DeFelice, Matthew; Grimsby, Jonna L; Abebe, Tamrat; Alemayehu, Melkam; Ashaba, Fred K; Atkinson, Elizabeth G; Bigdeli, Tim; Bradway, Amanda B; Brand, Harrison; Chibnik, Lori B; Fekadu, Abebaw; Gatzen, Michael; Gelaye, Bizu; Gichuru, Stella; Gildea, Marissa L; Hill, Toni C; Huang, Hailiang; Hubbard, Kalyn M; Injera, Wilfred E; James, Roxanne; Joloba, Moses; Kachulis, Christopher; Kalmbach, Phillip R; Kamulegeya, Rogers; Kigen, Gabriel; Kim, Soyeon; Koen, Nastassja; Kwobah, Edith K; Kyebuzibwa, Joseph; Lee, Seungmo; Lennon, Niall J; Lind, Penelope A; Lopera-Maya, Esteban A; Makale, Johnstone; Mangul, Serghei; McMahon, Justin; Mowlem, Pierre; Musinguzi, Henry; Mwema, Rehema M; Nakasujja, Noeline; Newman, Carter P; Nkambule, Lethukuthula L; O'Neil, Conor R; Olivares, Ana Maria; Olsen, Catherine M; Ongeri, Linnet; Parsa, Sophie J; Pretorius, Adele; Ramesar, Raj; Reagan, Faye L; Sabatti, Chiara; Schneider, Jacquelyn A; Shiferaw, Welelta; Stevenson, Anne; Stricker, Erik; Stroud, Rocky E 2nd; Tang, Jessie; Whiteman, David; Yohannes, Mary T; Yu, Mingrui; Yuan, Kai; Akena, Dickens; Atwoli, Lukoye; Kariuki, Symon M; Koenen, Karestan C; Newton, Charles R J C; Stein, Dan J; Teferra, Solomon; Zingela, Zukiswa; Pato, Carlos N; Pato, Michele T; Lopez-Jaramillo, Carlos; Freimer, Nelson; Ophoff, Roel A; Olde Loohuis, Loes M; Talkowski, Michael E; Neale, Benjamin M; Howrigan, Daniel P; Martin, Alicia R

Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains

全基因组分析确定了注意力缺陷多动症的27个风险位点,完善了其遗传结构,并揭示了多个认知领域与之相关。

Demontis, Ditte; Walters, G Bragi; Athanasiadis, Georgios; Walters, Raymond; Therrien, Karen; Nielsen, Trine Tollerup; Farajzadeh, Leila; Voloudakis, Georgios; Bendl, Jaroslav; Zeng, Biau; Zhang, Wen; Grove, Jakob; Als, Thomas D; Duan, Jinjie; Satterstrom, F Kyle; Bybjerg-Grauholm, Jonas; Bækved-Hansen, Marie; Gudmundsson, Olafur O; Magnusson, Sigurdur H; Baldursson, Gisli; Davidsdottir, Katrin; Haraldsdottir, Gyda S; Agerbo, Esben; Hoffman, Gabriel E; Dalsgaard, Søren; Martin, Joanna; Ribasés, Marta; Boomsma, Dorret I; Soler Artigas, Maria; Roth Mota, Nina; Howrigan, Daniel; Medland, Sarah E; Zayats, Tetyana; Rajagopal, Veera M; Nordentoft, Merete; Mors, Ole; Hougaard, David M; Mortensen, Preben Bo; Daly, Mark J; Faraone, Stephen V; Stefansson, Hreinn; Roussos, Panos; Franke, Barbara; Werge, Thomas; Neale, Benjamin M; Stefansson, Kari; Børglum, Anders D

Rare coding variants in ten genes confer substantial risk for schizophrenia

十个基因中的罕见编码变异会显著增加患精神分裂症的风险。

Singh, Tarjinder; Poterba, Timothy; Curtis, David; Akil, Huda; Al Eissa, Mariam; Barchas, Jack D; Bass, Nicholas; Bigdeli, Tim B; Breen, Gerome; Bromet, Evelyn J; Buckley, Peter F; Bunney, William E; Bybjerg-Grauholm, Jonas; Byerley, William F; Chapman, Sinéad B; Chen, Wei J; Churchhouse, Claire; Craddock, Nicholas; Cusick, Caroline M; DeLisi, Lynn; Dodge, Sheila; Escamilla, Michael A; Eskelinen, Saana; Fanous, Ayman H; Faraone, Stephen V; Fiorentino, Alessia; Francioli, Laurent; Gabriel, Stacey B; Gage, Diane; Gagliano Taliun, Sarah A; Ganna, Andrea; Genovese, Giulio; Glahn, David C; Grove, Jakob; Hall, Mei-Hua; Hämäläinen, Eija; Heyne, Henrike O; Holi, Matti; Hougaard, David M; Howrigan, Daniel P; Huang, Hailiang; Hwu, Hai-Gwo; Kahn, René S; Kang, Hyun Min; Karczewski, Konrad J; Kirov, George; Knowles, James A; Lee, Francis S; Lehrer, Douglas S; Lescai, Francesco; Malaspina, Dolores; Marder, Stephen R; McCarroll, Steven A; McIntosh, Andrew M; Medeiros, Helena; Milani, Lili; Morley, Christopher P; Morris, Derek W; Mortensen, Preben Bo; Myers, Richard M; Nordentoft, Merete; O'Brien, Niamh L; Olivares, Ana Maria; Ongur, Dost; Ouwehand, Willem H; Palmer, Duncan S; Paunio, Tiina; Quested, Digby; Rapaport, Mark H; Rees, Elliott; Rollins, Brandi; Satterstrom, F Kyle; Schatzberg, Alan; Scolnick, Edward; Scott, Laura J; Sharp, Sally I; Sklar, Pamela; Smoller, Jordan W; Sobell, Janet L; Solomonson, Matthew; Stahl, Eli A; Stevens, Christine R; Suvisaari, Jaana; Tiao, Grace; Watson, Stanley J; Watts, Nicholas A; Blackwood, Douglas H; Børglum, Anders D; Cohen, Bruce M; Corvin, Aiden P; Esko, Tõnu; Freimer, Nelson B; Glatt, Stephen J; Hultman, Christina M; McQuillin, Andrew; Palotie, Aarno; Pato, Carlos N; Pato, Michele T; Pulver, Ann E; St Clair, David; Tsuang, Ming T; Vawter, Marquis P; Walters, James T; Werge, Thomas M; Ophoff, Roel A; Sullivan, Patrick F; Owen, Michael J; Boehnke, Michael; O'Donovan, Michael C; Neale, Benjamin M; Daly, Mark J

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

基因组位点定位揭示了基因和突触生物学与精神分裂症的关系

Trubetskoy, Vassily; Pardiñas, Antonio F; Qi, Ting; Panagiotaropoulou, Georgia; Awasthi, Swapnil; Bigdeli, Tim B; Bryois, Julien; Chen, Chia-Yen; Dennison, Charlotte A; Hall, Lynsey S; Lam, Max; Watanabe, Kyoko; Frei, Oleksandr; Ge, Tian; Harwood, Janet C; Koopmans, Frank; Magnusson, Sigurdur; Richards, Alexander L; Sidorenko, Julia; Wu, Yang; Zeng, Jian; Grove, Jakob; Kim, Minsoo; Li, Zhiqiang; Voloudakis, Georgios; Zhang, Wen; Adams, Mark; Agartz, Ingrid; Atkinson, Elizabeth G; Agerbo, Esben; Al Eissa, Mariam; Albus, Margot; Alexander, Madeline; Alizadeh, Behrooz Z; Alptekin, Köksal; Als, Thomas D; Amin, Farooq; Arolt, Volker; Arrojo, Manuel; Athanasiu, Lavinia; Azevedo, Maria Helena; Bacanu, Silviu A; Bass, Nicholas J; Begemann, Martin; Belliveau, Richard A; Bene, Judit; Benyamin, Beben; Bergen, Sarah E; Blasi, Giuseppe; Bobes, Julio; Bonassi, Stefano; Braun, Alice; Bressan, Rodrigo Affonseca; Bromet, Evelyn J; Bruggeman, Richard; Buckley, Peter F; Buckner, Randy L; Bybjerg-Grauholm, Jonas; Cahn, Wiepke; Cairns, Murray J; Calkins, Monica E; Carr, Vaughan J; Castle, David; Catts, Stanley V; Chambert, Kimberley D; Chan, Raymond C K; Chaumette, Boris; Cheng, Wei; Cheung, Eric F C; Chong, Siow Ann; Cohen, David; Consoli, Angèle; Cordeiro, Quirino; Costas, Javier; Curtis, Charles; Davidson, Michael; Davis, Kenneth L; de Haan, Lieuwe; Degenhardt, Franziska; DeLisi, Lynn E; Demontis, Ditte; Dickerson, Faith; Dikeos, Dimitris; Dinan, Timothy; Djurovic, Srdjan; Duan, Jubao; Ducci, Giuseppe; Dudbridge, Frank; Eriksson, Johan G; Fañanás, Lourdes; Faraone, Stephen V; Fiorentino, Alessia; Forstner, Andreas; Frank, Josef; Freimer, Nelson B; Fromer, Menachem; Frustaci, Alessandra; Gadelha, Ary; Genovese, Giulio; Gershon, Elliot S; Giannitelli, Marianna; Giegling, Ina; Giusti-Rodríguez, Paola; Godard, Stephanie; Goldstein, Jacqueline I; González Peñas, Javier; González-Pinto, Ana; Gopal, Srihari; Gratten, Jacob; Green, Michael F; Greenwood, Tiffany A; Guillin, Olivier; Gülöksüz, Sinan; Gur, Raquel E; Gur, Ruben C; Gutiérrez, Blanca; Hahn, Eric; Hakonarson, Hakon; Haroutunian, Vahram; Hartmann, Annette M; Harvey, Carol; Hayward, Caroline; Henskens, Frans A; Herms, Stefan; Hoffmann, Per; Howrigan, Daniel P; Ikeda, Masashi; Iyegbe, Conrad; Joa, Inge; Julià, Antonio; Kähler, Anna K; Kam-Thong, Tony; Kamatani, Yoichiro; Karachanak-Yankova, Sena; Kebir, Oussama; Keller, Matthew C; Kelly, Brian J; Khrunin, Andrey; Kim, Sung-Wan; Klovins, Janis; Kondratiev, Nikolay; Konte, Bettina; Kraft, Julia; Kubo, Michiaki; Kučinskas, Vaidutis; Kučinskiene, Zita Ausrele; Kusumawardhani, Agung; Kuzelova-Ptackova, Hana; Landi, Stefano; Lazzeroni, Laura C; Lee, Phil H; Legge, Sophie E; Lehrer, Douglas S; Lencer, Rebecca; Lerer, Bernard; Li, Miaoxin; Lieberman, Jeffrey; Light, Gregory A; Limborska, Svetlana; Liu, Chih-Min; Lönnqvist, Jouko; Loughland, Carmel M; Lubinski, Jan; Luykx, Jurjen J; Lynham, Amy; Macek, Milan Jr; Mackinnon, Andrew; Magnusson, Patrik K E; Maher, Brion S; Maier, Wolfgang; Malaspina, Dolores; Mallet, Jacques; Marder, Stephen R; Marsal, Sara; Martin, Alicia R; Martorell, Lourdes; Mattheisen, Manuel; McCarley, Robert W; McDonald, Colm; McGrath, John J; Medeiros, Helena; Meier, Sandra; Melegh, Bela; Melle, Ingrid; Mesholam-Gately, Raquelle I; Metspalu, Andres; Michie, Patricia T; Milani, Lili; Milanova, Vihra; Mitjans, Marina; Molden, Espen; Molina, Esther; Molto, María Dolores; Mondelli, Valeria; Moreno, Carmen; Morley, Christopher P; Muntané, Gerard; Murphy, Kieran C; Myin-Germeys, Inez; Nenadić, Igor; Nestadt, Gerald; Nikitina-Zake, Liene; Noto, Cristiano; Nuechterlein, Keith H; O'Brien, Niamh Louise; O'Neill, F Anthony; Oh, Sang-Yun; Olincy, Ann; Ota, Vanessa Kiyomi; Pantelis, Christos; Papadimitriou, George N; Parellada, Mara; Paunio, Tiina; Pellegrino, Renata; Periyasamy, Sathish; Perkins, Diana O; Pfuhlmann, Bruno; Pietiläinen, Olli; Pimm, Jonathan; Porteous, David; Powell, John; Quattrone, Diego; Quested, Digby; Radant, Allen D; Rampino, Antonio; Rapaport, Mark H; Rautanen, Anna; Reichenberg, Abraham; Roe, Cheryl; Roffman, Joshua L; Roth, Julian; Rothermundt, Matthias; Rutten, Bart P F; Saker-Delye, Safaa; Salomaa, Veikko; Sanjuan, Julio; Santoro, Marcos Leite; Savitz, Adam; Schall, Ulrich; Scott, Rodney J; Seidman, Larry J; Sharp, Sally Isabel; Shi, Jianxin; Siever, Larry J; Sigurdsson, Engilbert; Sim, Kang; Skarabis, Nora; Slominsky, Petr; So, Hon-Cheong; Sobell, Janet L; Söderman, Erik; Stain, Helen J; Steen, Nils Eiel; Steixner-Kumar, Agnes A; Stögmann, Elisabeth; Stone, William S; Straub, Richard E; Streit, Fabian; Strengman, Eric; Stroup, T Scott; Subramaniam, Mythily; Sugar, Catherine A; Suvisaari, Jaana; Svrakic, Dragan M; Swerdlow, Neal R; Szatkiewicz, Jin P; Ta, Thi Minh Tam; Takahashi, Atsushi; Terao, Chikashi; Thibaut, Florence; Toncheva, Draga; Tooney, Paul A; Torretta, Silvia; Tosato, Sarah; Tura, Gian Battista; Turetsky, Bruce I; Üçok, Alp; Vaaler, Arne; van Amelsvoort, Therese; van Winkel, Ruud; Veijola, Juha; Waddington, John; Walter, Henrik; Waterreus, Anna; Webb, Bradley T; Weiser, Mark; Williams, Nigel M; Witt, Stephanie H; Wormley, Brandon K; Wu, Jing Qin; Xu, Zhida; Yolken, Robert; Zai, Clement C; Zhou, Wei; Zhu, Feng; Zimprich, Fritz; Atbaşoğlu, Eşref Cem; Ayub, Muhammad; Benner, Christian; Bertolino, Alessandro; Black, Donald W; Bray, Nicholas J; Breen, Gerome; Buccola, Nancy G; Byerley, William F; Chen, Wei J; Cloninger, C Robert; Crespo-Facorro, Benedicto; Donohoe, Gary; Freedman, Robert; Galletly, Cherrie; Gandal, Michael J; Gennarelli, Massimo; Hougaard, David M; Hwu, Hai-Gwo; Jablensky, Assen V; McCarroll, Steven A; Moran, Jennifer L; Mors, Ole; Mortensen, Preben B; Müller-Myhsok, Bertram; Neil, Amanda L; Nordentoft, Merete; Pato, Michele T; Petryshen, Tracey L; Pirinen, Matti; Pulver, Ann E; Schulze, Thomas G; Silverman, Jeremy M; Smoller, Jordan W; Stahl, Eli A; Tsuang, Debby W; Vilella, Elisabet; Wang, Shi-Heng; Xu, Shuhua; Adolfsson, Rolf; Arango, Celso; Baune, Bernhard T; Belangero, Sintia Iole; Børglum, Anders D; Braff, David; Bramon, Elvira; Buxbaum, Joseph D; Campion, Dominique; Cervilla, Jorge A; Cichon, Sven; Collier, David A; Corvin, Aiden; Curtis, David; Forti, Marta Di; Domenici, Enrico; Ehrenreich, Hannelore; Escott-Price, Valentina; Esko, Tõnu; Fanous, Ayman H; Gareeva, Anna; Gawlik, Micha; Gejman, Pablo V; Gill, Michael; Glatt, Stephen J; Golimbet, Vera; Hong, Kyung Sue; Hultman, Christina M; Hyman, Steven E; Iwata, Nakao; Jönsson, Erik G; Kahn, René S; Kennedy, James L; Khusnutdinova, Elza; Kirov, George; Knowles, James A; Krebs, Marie-Odile; Laurent-Levinson, Claudine; Lee, Jimmy; Lencz, Todd; Levinson, Douglas F; Li, Qingqin S; Liu, Jianjun; Malhotra, Anil K; Malhotra, Dheeraj; McIntosh, Andrew; McQuillin, Andrew; Menezes, Paulo R; Morgan, Vera A; Morris, Derek W; Mowry, Bryan J; Murray, Robin M; Nimgaonkar, Vishwajit; Nöthen, Markus M; Ophoff, Roel A; Paciga, Sara A; Palotie, Aarno; Pato, Carlos N; Qin, Shengying; Rietschel, Marcella; Riley, Brien P; Rivera, Margarita; Rujescu, Dan; Saka, Meram C; Sanders, Alan R; Schwab, Sibylle G; Serretti, Alessandro; Sham, Pak C; Shi, Yongyong; St Clair, David; Stefánsson, Hreinn; Stefansson, Kari; Tsuang, Ming T; van Os, Jim; Vawter, Marquis P; Weinberger, Daniel R; Werge, Thomas; Wildenauer, Dieter B; Yu, Xin; Yue, Weihua; Holmans, Peter A; Pocklington, Andrew J; Roussos, Panos; Vassos, Evangelos; Verhage, Matthijs; Visscher, Peter M; Yang, Jian; Posthuma, Danielle; Andreassen, Ole A; Kendler, Kenneth S; Owen, Michael J; Wray, Naomi R; Daly, Mark J; Huang, Hailiang; Neale, Benjamin M; Sullivan, Patrick F; Ripke, Stephan; Walters, James T R; O'Donovan, Michael C

A cross-disorder dosage sensitivity map of the human genome

人类基因组的跨疾病剂量敏感性图谱

Collins, Ryan L; Glessner, Joseph T; Porcu, Eleonora; Lepamets, Maarja; Brandon, Rhonda; Lauricella, Christopher; Han, Lide; Morley, Theodore; Niestroj, Lisa-Marie; Ulirsch, Jacob; Everett, Selin; Howrigan, Daniel P; Boone, Philip M; Fu, Jack; Karczewski, Konrad J; Kellaris, Georgios; Lowther, Chelsea; Lucente, Diane; Mohajeri, Kiana; Nõukas, Margit; Nuttle, Xander; Samocha, Kaitlin E; Trinh, Mi; Ullah, Farid; Võsa, Urmo; Hurles, Matthew E; Aradhya, Swaroop; Davis, Erica E; Finucane, Hilary; Gusella, James F; Janze, Aura; Katsanis, Nicholas; Matyakhina, Ludmila; Neale, Benjamin M; Sanders, David; Warren, Stephanie; Hodge, Jennelle C; Lal, Dennis; Ruderfer, Douglas M; Meck, Jeanne; Mägi, Reedik; Esko, Tõnu; Reymond, Alexandre; Kutalik, Zoltán; Hakonarson, Hakon; Sunyaev, Shamil; Brand, Harrison; Talkowski, Michael E

Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia

双相情感障碍的外显子组测序发现AKAP11是与精神分裂症共有的风险基因

Palmer, Duncan S; Howrigan, Daniel P; Chapman, Sinéad B; Adolfsson, Rolf; Bass, Nick; Blackwood, Douglas; Boks, Marco P M; Chen, Chia-Yen; Churchhouse, Claire; Corvin, Aiden P; Craddock, Nicholas; Curtis, David; Di Florio, Arianna; Dickerson, Faith; Freimer, Nelson B; Goes, Fernando S; Jia, Xiaoming; Jones, Ian; Jones, Lisa; Jonsson, Lina; Kahn, Rene S; Landén, Mikael; Locke, Adam E; McIntosh, Andrew M; McQuillin, Andrew; Morris, Derek W; O'Donovan, Michael C; Ophoff, Roel A; Owen, Michael J; Pedersen, Nancy L; Posthuma, Danielle; Reif, Andreas; Risch, Neil; Schaefer, Catherine; Scott, Laura; Singh, Tarjinder; Smoller, Jordan W; Solomonson, Matthew; Clair, David St; Stahl, Eli A; Vreeker, Annabel; Walters, James T R; Wang, Weiqing; Watts, Nicholas A; Yolken, Robert; Zandi, Peter P; Neale, Benjamin M

Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes

对英国生物银行394,841个外显子组中的数千种表型进行系统的单变异和基于基因的关联性检测

Karczewski, Konrad J; Solomonson, Matthew; Chao, Katherine R; Goodrich, Julia K; Tiao, Grace; Lu, Wenhan; Riley-Gillis, Bridget M; Tsai, Ellen A; Kim, Hye In; Zheng, Xiuwen; Rahimov, Fedik; Esmaeeli, Sahar; Grundstad, A Jason; Reppell, Mark; Waring, Jeff; Jacob, Howard; Sexton, David; Bronson, Paola G; Chen, Xing; Hu, Xinli; Goldstein, Jacqueline I; King, Daniel; Vittal, Christopher; Poterba, Timothy; Palmer, Duncan S; Churchhouse, Claire; Howrigan, Daniel P; Zhou, Wei; Watts, Nicholas A; Nguyen, Kevin; Nguyen, Huy; Mason, Cara; Farnham, Christopher; Tolonen, Charlotte; Gauthier, Laura D; Gupta, Namrata; MacArthur, Daniel G; Rehm, Heidi L; Seed, Cotton; Philippakis, Anthony A; Daly, Mark J; Davis, J Wade; Runz, Heiko; Miller, Melissa R; Neale, Benjamin M