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

Mapping the genetic landscape across 14 psychiatric disorders

绘制14种精神疾病的遗传图谱

Grotzinger, Andrew D; Werme, Josefin; Peyrot, Wouter J; Frei, Oleksandr; de Leeuw, Christiaan; Bicks, Lucy K; Guo, Qiuyu; Margolis, Michael P; Coombes, Brandon J; Batzler, Anthony; Pazdernik, Vanessa; Biernacka, Joanna M; Andreassen, Ole A; Anttila, Verneri; Børglum, Anders D; Breen, Gerome; Cai, Na; Demontis, Ditte; Edenberg, Howard J; Faraone, Stephen V; Franke, Barbara; Gandal, Michael J; Gelernter, Joel; Hatoum, Alexander S; Hettema, John M; Johnson, Emma C; Jonas, Katherine G; Knowles, James A; Koenen, Karestan C; Maihofer, Adam X; Mallard, Travis T; Mattheisen, Manuel; Mitchell, Karen S; Neale, Benjamin M; Nievergelt, Caroline M; Nurnberger, John I; O'Connell, Kevin S; Peterson, Roseann E; Robinson, Elise B; Sanchez-Roige, Sandra S; Santangelo, Susan L; Scharf, Jeremiah M; Stefansson, Hreinn; Stefansson, Kari; Stein, Murray B; Strom, Nora I; Thornton, Laura M; Tucker-Drob, Elliot M; Verhulst, Brad; Waldman, Irwin D; Walters, G Bragi; Wray, Naomi R; Yu, Dongmei; Lee, Phil H; Kendler, Kenneth S; Smoller, Jordan W

Rare genetic variants confer a high risk of ADHD and implicate neuronal biology

罕见基因变异会增加患注意力缺陷多动障碍(ADHD)的风险,并与神经元生物学有关。

Demontis, Ditte; Duan, Jinjie; Hsu, Yu-Han H; Pintacuda, Greta; Grove, Jakob; Nielsen, Trine Tollerup; Thirstrup, Janne; Martorana, Makayla; Botts, Travis; Satterstrom, F Kyle; Bybjerg-Grauholm, Jonas; Tsai, Jason H Y; Glerup, Simon; Hoogman, Martine; Buitelaar, Jan; Klein, Marieke; Ziegler, Georg C; Jacob, Christian; Grimm, Oliver; Bayas, Maximilian; Kobayashi, Nene F; Kittel-Schneider, Sarah; Lesch, Klaus-Peter; Franke, Barbara; Reif, Andreas; Agerbo, Esben; Werge, Thomas; Nordentoft, Merete; Mors, Ole; Mortensen, Preben Bo; Lage, Kasper; Daly, Mark J; Neale, Benjamin M; Børglum, Anders D

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

对snRNA基因的系统分析揭示了显性和隐性发育性脑病和癫痫性脑病中常见的RNU2-2变异。

Leitão, Elsa; Santini, Amandine; Cogne, Benjamin; Essid, Miriam; Athanasiadou, Maria; LaFlamme, Christy W; Marijon, Pierre; Bernard, Virginie; Jousselin, Kevin; Chatron, Nicolas; Barcia, Giulia; Keren, Boris; Mignot, Cyril; Charles, Perrine; Besnard, Thomas; Paluch, Robin; de Sainte Agathe, Jean-Madeleine; Almanza Fuerte, Edith P; Sengupta, Soham; Milh, Mathieu; Ramond, Francis; Allan, Talia; An, Isabelle; Araujo, Camila; Arpin, Stéphanie; Austin-Tse, Christina; Auvin, Stéphane; Baer, Sarah; Bahi-Buisson, Nadia; Bak, Mads; Barth, Magalie; Baulac, Stéphanie; Bednarek-Weirauch, Nathalie; Begemann, Matthias; Bennett, Mark F; Bensabath, Uriel; Bézieau, Stéphane; Bhouri, Rakia; Biehler, Margaux; Hammer, Trine Bjørg; Bogoin, Julie; Bonanno, Emilie; Boussion, Simon; Bris, Céline; Brosseau-Beauvir, Adelaide; Bruel, Ange-Line; Briand-Suleau, Audrey; Buratti, Julien; Celse, Tristan; Chambon, Pascal; Chemaly, Nicole; Chesneau, Bertrand; Colin, Estelle; Colmard, Maxime; Colson, Cindy; Conrad, Solène; Courtin, Thomas; Creveaux, Isabelle; Cullier, Anne-Charlotte; Dang, Louis T; de Saint Martin, Anne; de Vanssay de Blavous Legendre, Caroline; Demeer, Bénédicte; Denommé-Pichon, Anne-Sophie; Diekhoff, Philine; DiTroia, Stephanie; Doco-Fenzy, Martine; Dubourg, Christèle; Dubucs, Charlotte; Ducreux, Stéphanie; Dufour, Louis; Duquet, Romain; Durand, Benjamin; El Chehadeh, Salima; Elbracht, Miriam; Faivre, Laurence; Faoucher, Marie; Faudet, Anne; Forlani, Sylvie; Fradin, Mélanie; Gaignard, Pauline; Ganne, Benjamin; Garde, Aurore; Géraud, Justine; Gill, Deepak; Goldenberg, Alice; Grabli, David; Grisel, Coraline; Gueden, Sophie; Gueguen, Paul; Guerrot, Anne-Marie; Guichet, Agnès; Haack, Tobias B; Härting, Nina; Häusler, Martin Georg; Heide, Solveig; Herget, Theresia; Héron, Bénédicte; Héron, Delphine; Herwig, Johanna; Heulin, Mathilde; Holling, Tess; Houdayer, Clara; Isidor, Bertrand; Jacquette, Aurélia; Januel, Louis; Jean-Marçais, Nolwenn; Kaiser, Frank J; Kaya, Sabine; King, Chontelle; Konyukh, Marina; Kraft, Florian; Krause, Jeremias; Kirstetter, Rémi; Kuechler, Alma; Kurth, Ingo; Kutsche, Kerstin; Labalme, Audrey; Laloy, Jean-Serene; Laugel, Vincent; Le Bricquir, Floriane; Lèbre, Anne-Sophie; Lebrun, Marine; Leguern, Eric; Levy, Jonathan; Lieffering, Nico; Lyonnet, Stanislas; Lüthy, Kevin; Macdonald, Sian M W; Mansour-Hendili, Lamisse; Maraval, Julien; Marquardt, Iris; Mattausch, Carolin; Mercier, Sandra; Messaoud, Olfa; Morel, Godelieve; Mortreux, Jérémie; Munnich, Arnold; Nabbout, Rima; Nambot, Sophie; Navarro, Vincent; Neale, Ashana; Nguyen, Laetitia; Nizon, Mathilde; Nowak, Frédérique; O'Leary, Melanie C; Odent, Sylvie; Ojeda, Naomi Meave; Olin, Valérie; Olivieri, Simone; Õunap, Katrin; Pais, Lynn S; Panagiotakaki, Eleni; Patat, Olivier; Perrin-Sabourin, Laurence; Petit, Florence; Philippe, Christophe; Piton, Amélie; Planes, Marc; Poirsier, Céline; Pouzet, Antoine; Prouteau, Clément; Quéméner-Redon, Sylvia; Renaud, Mathilde; Richard, Anne-Claire; Rio, Marlène; Rivier, Clotilde; Robin-Renaldo, Florence; Rollier, Paul; Rossi, Massimiliano; Roubertie, Agathe; Ruault, Valentin; Rupin-Mas, Maïlys; Saugier-Veber, Pascale; Saunier, Aline; Saneto, Russell; Sarrazin, Elisabeth; Sarret, Catherine; Schaefer, Elise; Schluth-Bolard, Caroline; Schneider, Amy; Schumann, Isabell; Seplyarskiy, Vladimir B; Spranger, Stephanie; Smol, Thomas; Sturm, Marc; Sunyaev, Shamil R; Sperelakis-Beedham, Brian; Stenton, Sarah L; Stock, Friedrich; Tharreau, Mylène; Torun, Deniz; Toulouse, Joseph; Thiyagarajah, Harshini; Valence, Stéphanie; Valleix, Sophie; Van-Gils, Julien; Villard, Laurent; Ville, Dorothée; Villeneuve, Nathalie; Vitobello, Antonio; Waernessyckle, Aurélie; Wagner, Jan; Weber, Yvonne; Wieczorek, Dagmar; Witkowski, Tom; Yadavilli, Manya; Yammine, Tony; Zaafrane-Khachnaoui, Khaoula; Zaki, Maha S; Ziegler, Alban; Bramswig, Nuria C; Lermine, Alban; Nicolas, Gael; Gleeson, Joseph G; Sadleir, Lynette G; Hildebrand, Michael S; Scheffer, Ingrid E; Whiffin, Nicola; O'Donnell-Luria, Anne; Mefford, Heather C; Blanc, Pierre; Thevenon, Julien; Charbonnier, Camille; Charenton, Clément; Depienne, Christel; Lesca, Gaetan; Nava, Caroline

Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases

全球多族裔全基因组分析鉴定出与甲状腺癌和良性甲状腺疾病相关的基因和生物学通路

White, Samantha L; Brasher, Maizy S; Pattee, Jack; Zhou, Wei; Chapman, Sinéad; Jee, Yon Ho; Bell, Caitlin C; Jamil, Taylor L; Barrio, Martin; Arehart, Christopher H; Evans, Luke M; Hirbo, Jibril; Cox, Nancy J; Straub, Peter; Namba, Shinichi; Bertucci-Richter, Emily; Guare, Lindsay; Edris, Ahmed; Morris, Sam; Mulford, Ashley J; Zhang, Haoyu; Fennessy, Brian; Tobin, Martin D; Chen, Jing; Williams, Alexander T; John, Catherine; van Heel, David A; Mathur, Rohini; Finer, Sarah; Moksnes, Marta R; Brumpton, Ben M; Åsvold, Bjørn Olav; Peculis, Raitis; Rovite, Vita; Konrade, Ilze; Wang, Ying; Crooks, Kristy; Chavan, Sameer; Fisher, Matthew J; Rafaels, Nicholas; Lin, Meng; Shortt, Jonathan A; Sanders, Alan R; Whiteman, David C; MacGregor, Stuart; Medland, Sarah E; Thorsteinsdóttir, Unnur; Stefánsson, Kári; Karaderi, Tugce; Egan, Kathleen M; Bocklage, Therese; McCrary, Hilary C; Riedlinger, Gregory; Salhia, Bodour; Shriver, Craig; Phan, Minh D; Farlow, Janice L; Edge, Stephen; Kaur, Varinder; Churchman, Michelle L; Rounbehler, Robert J; Brock, Pamela L; Ringel, Matthew D; Pividori, Milton; Schweppe, Rebecca; Raeburn, Christopher D; Walters, Robin G; Chen, Zhengming; Li, Liming; Matsuda, Koichi; Okada, Yukinori; Zöllner, Sebastian; Verma, Anurag; Preuss, Michael H; Kenny, Eimear; Hendricks, Audrey E; Fishbein, Lauren; Kraft, Peter; Daly, Mark J; Neale, Benjamin M; Martin, Alicia R; Cole, Joanne B; Haugen, Bryan R; Gignoux, Christopher R; Pozdeyev, Nikita

Uncovering the genomic complexity of PAX5 intragenic tandem multiplication via long-read and short-read sequencing

利用长读长和短读长测序揭示PAX5基因内串联重复的基因组复杂性

Liu, Yanling; Ju, Bensheng; Dong, Li; Loyd, Melanie; Brady, Samuel W; Ries, Rhonda; Feng, Yuan; Mulder, Heather; Plyler, Emily; Deardorff, Christian; McBride, Andrea; Jones, Tyler; Eckert, Alexis; Kolekar, Pandurang; Fan, Li; Li, Hanxia; Briviba, Monta; Zhao, Huanbin; Bennett, Declan; Neale, Geoff; Chang, Ti-Cheng; Chen, Wenan; Pounds, Stanley; Wu, Gang; Mullighan, Charles; Geeleher, Paul; Ji, Lingyun; Yang, Jun J; Meshinchi, Soheil; Brown, Patrick A; Carroll, William L; Zhang, Jinghui; Loh, Mignon L; Easton, John; Ma, Xiaotu

Epigenome-wide analysis identifies DNA methylation mediators of treatment-related cardiometabolic risk in survivors of childhood cancer

全基因组表观遗传分析揭示了儿童癌症幸存者治疗相关心血管代谢风险的DNA甲基化介质

Eulalio, Tiffany; Kim, Yoonji; Meng, Xiaoxi; Plonski, Noel-Marie; Shelton, Kyla; Mulder, Heather; Plyler, Emily; Easton, John; Chen, Xiang; Zhang, Jinghui; Walker, Emily; Neale, Geoffrey; Ni, Min; Lucas, John T Jr; Chatterjee, Nilanjan; Wang, Ziqiao; Srivastava, Deokumar; Ky, Bonnie; Dixon, Stephanie B; Ness, Kirsten K; Hudson, Melissa M; Armstrong, Gregory T; Wang, Zhaoming

High-Energy Hybridized States Enable Long-Lived Hot Electrons in Cobaloxime-Silicon Nanocrystal System

高能杂化态使钴肟-硅纳米晶体系中长寿命热电子得以存在

Le, Trung H; Gish, Melissa K; Saund, Simran S; Aubry, Taylor; Neale, Nathan R

FAVOR 2.0: A reengineered functional annotation of variants online resource for interpreting genomic variation

FAVOR 2.0:一个重新设计的在线变异功能注释资源,用于解释基因组变异

Zhou, Hufeng; Verma, Vineet; Li, Xihao; Li, Zilin; Shedd, Nicole; Li, Thomas Cheng; Yang, Haoyu; Zhang, Alvin; Borsari, Beatrice; Buyske, Steven; Gerstein, Mark; Matise, Tara; Zody, Michael C; Neale, Benjamin; Weng, Zhiping; Sunyaev, Shamil R; Lin, Xihong

Comparison of variant callers using 60 532 multi-ancestry whole genome sequences

利用 60532 个多祖先全基因组序列对变异检测器进行比较

Zhou, Hufeng; Li, Zilin; Shyr, Derek; Li, Xihao; Yang, Haoyu; Dey, Rounak; Tang, Yushi; Maier, Robert; Boerwinkle, Eric; Buyske, Steve; Daly, Mark; Felsenfeld, Adam; Gibbs, Richard A; Gupta, Namrata; Hall, Ira M; Matise, Tara; Metcalf, Ginger A; Smith, Albert; Reeves, Catherine; Sofia, Heidi J; Stitziel, Nathan O; Zody, Michael C; Neale, Benjamin; Lin, Xihong

Developmental reprogramming underlies chemotherapy resistance in favorable-histology Wilms tumor

发育重编程是预后良好型肾母细胞瘤化疗耐药的根本原因。

Fleming, Andrew M; Jablonowski, Carolyn M; Jin, Hongjian; Zhang, Siwei; Sona, Surbhi; Lee, Ha Won; Dieseldorff Jones, Karissa M; Cheng, Changde; Xu, Beisi; Morton, Christopher L; Woolard, Mary A; Pichavaram, Prahalathan; Gehle, Daniel B; Natarajan, Sivaraman; Kodali, Kiran; Pagala, Vishwajeeth; High, Anthony A; Kumar, Yogesh; Burden, Steven; Valentine, Virginia; Daria, Deidre; Harbour, Jake; Vocelle, Daniel; Chang, Ti-Cheng; Easton, John; Olsen, Scott R; Neale, Geoffrey; Pinto, Emilia M; Rehg, Jerold E; Janke, Laura; Santiago, Teresa; George, Rani E; Ma, Xiaotu; Zambetti, Gerard P; Davidoff, Andrew M; Chen, Taosheng; Wu, Gang; Chen, Xiang; Yang, Jun; Murphy, Andrew J