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

Deleterious coding variation associated with autism is shared across ancestries

与自闭症相关的有害编码变异在不同祖先群体中是共通的。

Natividad Avila, Marina; Jung, Seulgi; Satterstrom, F Kyle; Fu, Jack M; Levy, Tess; Sloofman, Laura G; Klei, Lambertus; Pichardo, Thariana; Marquez, Dalia; Stevens, Christine R; Cusick, Caroline M; Ames, Jennifer L; Campos, Gabriele S; Cerros, Hilda; Chaskel, Roberto; Costa, Claudia I S; Cuccaro, Michael L; Lopez, Andrea Del Pilar; Fernandez, Magdalena; Ferro, Eugenio; Galeano, Liliana; Girardi, Ana Cristina D E S; Griswold, Anthony J; Hernandez, Luis C; Lourenço, Naila; Ludena, Yunin; Núñez-Ríos, Diana; Oyama, Rosa; Peña, Katherine P; Pessah, Isaac; Schmidt, Rebecca; Sweeney, Holly M; Tolentino, Lizbeth; Wang, Jaqueline Y T; Albores-Gallo, Lilia; Croen, Lisa A; Cruz-Fuentes, Carlos S; Hertz-Picciotto, Irva; Kolevzon, Alexander; Lattig, Maria Claudia; Mayo, Liliana; Passos-Bueno, Maria Rita; Pericak-Vance, Margaret A; Siper, Paige M; Tassone, Flora; Trelles, M Pilar; Talkowski, Michael E; Daly, Mark J; Mahjani, Behrang; De Rubeis, Silvia; Cook, Edwin H; Roeder, Kathryn; Betancur, Catalina; Devlin, Bernie; Buxbaum, Joseph D

Genetic regulation across germline and somatic variation on the Y chromosome contributes to type 2 diabetes

Y染色体上生殖细胞和体细胞变异的遗传调控是导致2型糖尿病的原因之一。

Sato, Go; Yamamoto, Yuji; Sonehara, Kyuto; Saiki, Ryunosuke; Ojima, Takafumi; Kanai, Masahiro; Liu, Aoxing; Edahiro, Ryuya; Shirai, Yuya; Namba, Shinichi; Namkoong, Ho; Hasaegawa, Takanori; Koyanagi, Yuriko N; Kasugai, Yumiko; Yamaji, Taiki; Nakano, Shiori; Genovese, Giulio; Sipilä, Timo P; Ghazal, Awaisa; Tanaka, Hiromu; Azekawa, Shuhei; Uwamino, Yoshifumi; Yamamoto, Kenichi; Suzuki, Ken; Hata, Tsuyoshi; Uemura, Mamoru; Takeda, Yoshito; Kanai, Akinori; Higashiue, Shinichi; Kobayashi, Shuzo; Afuso, Hisaaki; Matsuura, Kosho; Mitsumoto, Yojiro; Fujita, Yasuhiko; Oda, Yoshiya; Suzuki, Yutaka; Morisaki, Takayuki; Ishii, Makoto; Kitagawa, Yuko; Koike, Ryuji; Kimura, Akinori; Imoto, Seiya; Miyano, Satoru; Kanai, Takanori; Takayama, Jun; Iwasaki, Motoki; Sawada, Norie; Fukunaga, Koichi; Matsuo, Keitaro; Kumanogoh, Atsushi; Doki, Yuichiro; Eguchi, Hidetoshi; Nakagome, Shigeki; Tamiya, Gen; Ganna, Andrea; Palotie, Aarno; Daly, Mark J; Wilson, James F; Yamamoto, Masayuki; Matsuda, Koichi; Ogawa, Seishi; Yamauchi, Toshimasa; Kadowaki, Takashi; Okada, Yukinori

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

Genome-wide association analyses of autoimmune hypothyroidism reveal autoimmune and thyroid-specific contributions and an inverse relationship with cancer risk

全基因组关联分析揭示了自身免疫性甲状腺功能减退症的自身免疫和甲状腺特异性因素,以及与癌症风险的负相关关系。

Reeve, Mary Pat; Kanai, Masahiro; Graham, Daniel B; Karjalainen, Juha; Luo, Shuang; Kolosov, Nikita; Adams, Cameron; Ritari, Jarmo; Karczewski, Konrad J; Kiiskinen, Tuomo; Jiang, Yu; Fuller, Zachary; Mehtonen, Juha; Kurki, Mitja I; Khan, Zia; Partanen, Jukka; McCarthy, Mark I; Artomov, Mykyta; Palotie, Aarno; Tuomi, Tiinamaija; Pirinen, Matti; Kero, Jukka; Xavier, Ramnik J; Daly, Mark J; Ripatti, Samuli

Cystic fibrosis risk variants confer protection against inflammatory bowel disease

囊性纤维化风险变异可预防炎症性肠病

Yu, Mingrui; Zhang, Qian; Yuan, Kai; Sazonovs, Aleksejs; Stevens, Christine R; Fachal, Laura; Lamb, Christopher A; Anderson, Carl A; Daly, Mark J; Huang, Hailiang

Integrating 730,947 exome sequences with clinical literature improves gene discovery

将730,947个外显子组序列与临床文献整合,可提高基因发现率。

Guez, Jeremy; Goodrich, Julia K; Moldovan, Mikhail A; Chao, Katherine R; Kar, Prathitha; Panchal, Ruchit; Wilson, Michael W; Laricchia, Kristen M; Rohlicek, Greg; Biba, Dmitry; Marten, Daniel; He, Qin; Darnowsky, Philip W; Grant, Riley; Weisburd, Ben; Baxter, Samantha M; Nadeau, Joshua; Lu, Wenhan; Jahl, Steve; Parsa, Sophie; Lamane, Abdallah; DiTroia, Stephanie; Fu, Jack; Zhao, Xuefang; Alarmani, Elissa; Tolonen, Charlotte; Novod, Sam; Bryant, Sam; Stevens, Christine; Chapman, Sinéad B; Cusick, Caroline; Vittal, Christopher; Gauthier, Laura D; Goldstein, Jacqueline I; Goldstein, Daniel; King, Daniel; Poterba, Timothy; Tiao, Grace; Tranchero, Matteo; Lotter, William; MacArthur, Daniel G; Brand, Harrison; Seplyarskiy, Vladimir; Koch, Evan; Talkowski, Michael E; Solomonson, Matthew; Neale, Benjamin M; O'Donnell-Luria, Anne; Finucane, Hilary K; Sunyaev, Shamil R; Daly, Mark J; Rehm, Heidi L; Samocha, Kaitlin E; Karczewski, Konrad J

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification

基因门户:将临床、功能和结构证据整合到罕见病变异分类中的框架

Brünger, Tobias; Krey, Ilona; Kim, Suyeon; Klöckner, Chiara; Myers, Scott J; Johannesen, Katrine M; Stefanski, Arthur; Taylor, Gary; Perez-Palma, Eduardo; Macnee, Marie; Schorge, Stephanie; Dahl, Rebekka S; Yuan, Hongjie; Perszyk, Riley E; Kim, Sukhan; Bajaj, Sunanjay; Helbig, Ingo; Pan, Jen Q; Farrant, Mark; Wollmuth, Lonnie; Wyllie, David J A; Kurganov, Erkin; Baez, David; Zuberi, Sameer; Boßelmann, Christian M; Lerche, Holger; Mantegazza, Massimo; Cestèle, Sandrine; May, Patrick; Ivaniuk, Alina; Meskis, Mary Anne; Hood, Veronica; Schust, Leah; Goodspeed, Kimberly; Kang, Jing-Qiong; Freed, Amber; Gati, Cornelius; Montanucci, Ludovica; Wuster, Arthur; Trinidad, Marena; Froelich, Steven; Deng, Alexander T; Serrano, Ángel Aledo; Borovikov, Artem; Sharkov, Artem; Bouman, Arjan; Hajianpour, M J; Pal, Deb K; Danvoye, Leslie; Lederer, Damien; Balci, Tugce R; Hagebeuk, Eveline E O; Heidlebaugh, Alexis; Oetjens, Kathryn; Hoffman, Trevor L; Striano, Pasquale; Williams, Sarah Drewes; van Engelen, Kalene; Howell, Katherine B; Khoury, Jean; Benke, Tim A; Strehlow, Vincent; Platzer, Konrad; Ramsey, Amy; Manaster, Lisa; Malepati, Sunitha; Fox, Pangkong; Noebels, Jeffrey; Chung, Wendy; Poduri, Annapurna; Stripe, Laina Lusk; Ruggiero, Sarah M; Cohen, Stacey; Smith, Lacey; Boesch, Sylvia; Wilmarth, Olivia; Prentice, Anna Jenne; Cha, Esther; Budnik, Nikita; Hommersom, Marina P; Kramer, Audra; Vanoye, Carlos G; Zhang, Guo-Qiang; Nothnagel, Michael; Palotie, Aarno; Daly, Mark J; George, Alfred L Jr; Zarate, Yuri A; Brunklaus, Andreas; Traynelis, Stephen F; Møller, Rikke S; Lemke, Johannes R; Lal, Dennis

Genome-wide association study of long COVID

针对新冠长期症状的全基因组关联研究

Lammi, Vilma; Nakanishi, Tomoko; Jones, Samuel E; Andrews, Shea J; Karjalainen, Juha; Cortés, Beatriz; O'Brien, Heath E; Ochoa-Guzman, Ana; Fulton-Howard, Brian E; Broberg, Martin; Haapaniemi, Hele H; Kanai, Masahiro; Pirinen, Matti; Schmidt, Axel; Mitchell, Ruth E; Mousas, Abdou; Mangino, Massimo; Huerta-Chagoya, Alicia; Sinnott-Armstrong, Nasa; Cirulli, Elizabeth T; Vaudel, Marc; Kwong, Alex S F; Maiti, Amit K; Marttila, Minttu M; Posner, Daniel C; Rodriguez, Alexis A; Batini, Chiara; Minnai, Francesca; Dearman, Anna R; Warmerdam, C A Robert; Sequeros, Celia B; Winkler, Thomas W; Jordan, Daniel M; Rešcenko, Raimonds; Miano, Lorenzo; Lane, Jacqueline M; Chung, Ryan K; Guillen-Guio, Beatriz; Leavy, Olivia C; Carvajal-Silva, Laura; Aguilar-Valdés, Kevin; Frangione, Erika; Guare, Lindsay; Vergasova, Ekaterina; Marouli, Eirini; Striano, Pasquale; Zainulabid, Ummu Afeera; Kumar, Ashutosh; Ahmad, Hajar Fauzan; Edahiro, Ryuya; Azekawa, Shuhei; Luoh, Shiuh-Wen; Erikstrup, Christian; Pedersen, Ole B V; Lerner-Ellis, Jordan; Colombo, Alicia; Grzymski, Joseph J; Ishii, Makoto; Okada, Yukinori; Beckmann, Noam D; Kumari, Meena; Wagner, Ralf; Heid, Iris M; John, Catherine; Short, Patrick J; Magnus, Per; Ansone, Laura; Valenti, Luca V C; Lee, Sulggi A; Wain, Louise V; Verdugo, Ricardo A; Banasik, Karina; Geller, Frank; Franke, Lude H; Rakitko, Alexander; Duncan, Emma L; Renieri, Alessandra; Tsilidis, Konstantinos K; de Cid, Rafael; Niavarani, Ahmadreza; Abner, Erik; Tusié-Luna, Teresa; Verma, Shefali S; Smith, George Davey; Timpson, Nicholas J; Madduri, Ravi K; Cho, Kelly; Daly, Mark J; Ganna, Andrea; Schulte, Eva C; Richards, J Brent; Ludwig, Kerstin U; Marks-Hultström, Michael; Zeberg, Hugo; Ollila, Hanna M

Improved allele frequencies in gnomAD through local ancestry inference

通过局部祖源推断改进gnomAD中的等位基因频率

Kore, Pragati; Wilson, Michael W; Tiao, Grace; Chao, Katherine; Darnowsky, Philip W; Watts, Nicholas A; Mauer, Jessica Honorato; Baxter, Samantha M; Rehm, Heidi L; Daly, Mark J; Karczewski, Konrad J; Atkinson, Elizabeth G