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

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

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

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

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

Trajectories of genetic risk across dimensions of alcohol use behaviors

酒精使用行为各维度中的遗传风险轨迹

Savage, Jeanne E; Aliev, Fazil; Barr, Peter B; Choi, Maia; Drouard, Gabin; Cooke, Megan E; Kuo, Sally I; Stephenson, Mallory; Brislin, Sarah J; Neale, Zoe E; Latvala, Antti; Rose, Richard J; Kaprio, Jaakko; Dick, Danielle M; Meyers, Jacquelyn; Salvatore, Jessica E; Posthuma, Danielle

Decision support tools for pancreatic cancer detection: external validation in Australian primary care - a retrospective cohort study

胰腺癌检测决策支持工具:澳大利亚基层医疗机构的外部验证——一项回顾性队列研究

Schrader, Silja; Rafiq, Meena; Martinez-Gutierrez, Javiera; Waterhouse, Mary; Lee, Belinda; Neale, Rachel E; Emery, Jon

Wherefore the Magic? The Evolutionary Role of Psilocybin in Nature

魔法从何而来?裸盖菇素在自然界的进化作用

Jenkins, William S; Vesey, Alex T; Vickers, Anna; Neale, Anoushka; Moles, Catriona; Connell, Martin; Joshi, Nikhil Vilas; Lucatelli, Christophe; Fletcher, Alison M; Spratt, James C; Mirsadraee, Saeed; van Beek, Edwin Jr; Rudd, James Hf; Newby, David E; Dweck, Marc R; Matthews Nicholass, K J; Flis, I; Hanley, M E; Knight, M E; Lane, S M; Littlejohn, G; Thom, M D F; Billington, R A; Boden, R; Cummins, R; Green, B J; Griffin, C; Jones, S; Salmon, D; Sleep, I; Smirnoff, N; Ellis, J S

Neurodevelopmental disease-causing variants in choline kinase CHKA gene couple phosphatidylcholine synthesis to oxidative stress damage and disease etiology.

胆碱激酶 CHKA 基因的神经发育疾病致病变异将磷脂酰胆碱合成与氧化应激损伤和疾病病因联系起来。

Tavasoli Mahtab, Alkandari Mariam, Dorighello Gabriel, McPhee Michael, Ridgway Neale D, Isaac Kathy, Sokolenko Stanislav, Maroofian Reza, Shukla Anju, Zaki Maha S, Houlden Henry, McMaster Christopher R