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

MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism.

MSH3 是 X 连锁肌张力障碍帕金森病中体细胞重复序列不稳定性的一种遗传修饰因子。

Mejia Maza Alan, Hincher Madison, Correia Kevin, Gillis Tammy, Nishiyama Ayumi, Penney Ellen B, Domingo Aloysius, Yadav Rachita, Murcar Micaela G, Villafria Mercado Patrick D, Han Justin S, Norenberg Ean P, Fernandez-Cerado Cara, Legarda G Paul, Sy Michelle, Muñoz Edwin L, Ang Mark C, Diesta Cid Czarina E, Go Criscely, Sharma Nutan, Bragg D Cristopher, Talkowski Michael E, MacDonald Marcy E, Lee Jong-Min, Ozelius Laurie J, Wheeler Vanessa Chantal

De novo rare EMX2 variants lead to idiopathic hypogonadotropic hypogonadism.

罕见的新生 EMX2 变异会导致特发性低促性腺激素性性腺功能减退症。

Stamou Maria, Tompkins Miranda, Bow Hannah, Kearney Jessica, Akram Maleeha, Brand Harrison, Zhao Xuefang, Zaheri Shadi, Georgopoulos Neoklis A, Chorin Odelia, Khavkin Yulia, Kedar Tal, Lippincott Margaret F, Plummer Lacey, Talkowski Michael, Shen Yiping, Wu Doris K, Balasubramanian Ravikumar, Wray Susan, Seminara Stephanie B

Transcriptomic profiling uncovers mis-splicing and gene fusions in amyotrophic lateral sclerosis

转录组分析揭示肌萎缩侧索硬化症中的错误剪接和基因融合

Xu, Huilin; Petrozziello, Tiziana; Boudi, Adel; Shibata, Shota; Huntress, Sommer S; Shahryari, Alireza; Zhao, Xuefang; Kesavan, Maheswaran; Granucci, Eric J; Castillo Torres, Ayleen L; Monsanto, Ranee Zara B; Lemanski, John; Jana, Bimal; De Esch, Celin E F; Cudkowicz, Merit E; Berry, James D; Brand, Harrison; Talkowski, Michael E; Mouro Pinto, Ricardo; Gao, Dadi; Sadri-Vakili, Ghazaleh

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

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder

临床、体外和体内证据表明,WAPL 是一种新的黏连蛋白病基因,也是 10q22.3q23.2 基因组疾病的表型驱动因素。

Boone, Philip M; Erdin, Serkan; Mohamed, Abucar; Haghshenas, Sadegheh; Faour, Kamli N W; Kao, Emeline; Fu, Jack; Auwerx, Chiara; Harripaul, Ricardo; Jana, Bimal; Springer, Danielle; Hallstrom, Grey; de Esch, Celine E F; Denhoff, Erica; Holmes, Lauren; Mohajeri, Kiana; Lemanski, John; Kerkhof, Jennifer; McConkey, Haley; Rzasa, Jessica; McCune, Madison J; Levy, Michael A; Grafstein, Julia; Larson, Matthew; Wright, Zsabre; Beauchamp, Roberta L; Lucente, Diane; Jamra, Rami Abou; Agrawal, Neena; Agrawal, Pankaj; Andersen, Erica F; Argilli, Emanuela; Araiza, Renee; Ballal, Sonia; Baxter, Megan F; Bergant, Gaber; Bertsche, Astrid; Bhavsar, Riya; Bortola, Debora R; Bothe, Viktoria; Brasch-Andersen, Charlotte; Braun, Dominique; Bruel, Ange-Line; Buchanan, Catherine; Burt, Nicholas D; Carvalho, Laura M L; Chiriatti, Luigi; Cogne, Benjamin; Collins, Ryan; Crunk, Amy; Currall, Benjamin; Delahaye-Duriez, Andree; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Devriendt, Koenraad; Domingo, Aloysius; Duncan, Laura; Faivre, Laurence; Famularo, Laura; Fulton, Anne; Genetti, Casie; Harel, Tamar; Havlovicova, Marketa; Higgs, Jenny; Houlier, Marine; Iascone, Maria; Immken, LaDonna; Isidor, Bertrand; Kaiser, Frank J; Karbone, Kaycee; Kenna, Margaret; Khan, Amjad; Kimmig, Lara Kristina; Kleefstra, Tjitske; Kraus, Eva-Maria; Krepischi, Ana C V; Krey, Ilona; Ladda, Roger; Lanoue, Louise; Le Caignec, Cedric; Lewis, Zoe K; Lima, Gloria; Lynch, Sally Ann; Macek, Milan Jr; Maier, Olivier; Maitz, Silvia; Male, Alison; Malikova, Marcela; McKay, Victoria; Moldovan, Oana; Monteil, Danielle; Oliveira, Mariana Moysés; Munasinghe, Jeeva; Nakamori, Sachiko; Neuser, Sonja; Nizon, Mathilde; Nuttle, Xander; O'Keefe, Kathryn; Orec, Laura; Parenti, Ilaria; Peterlin, Borut; Pfundt, Rolph; Pouncey, Jill; Radio, Francesca Clementina; Robert, Leema; Rodan, Lance; Rosenberg-Fogler, Hallel; Rosenfeld, Jill A; Safraou, Hana; Salani, Monica; Schliesske, Sophia; Seaby, Eleanor G; Sell, Susan; Eliot Shearer, A; Sherr, Elliott; Shillington, Amelle; Siebold, Dorothea; Sinnema, Margje; Smith, Laura; Stegmann, Alexander P A; Stevens, Cathy; Stevens, Servi; Surette, Eric; Tartaglia, Marco; Taylor, Jenny C; Thompson, Michelle L; Tørring, Pernille M; Mau Them, Frederic Tran; Tsoulaki, Olga; Umair, Muhammad; Vanhoutte, Els; Vincent, Marie; Vitobello, Antonio; von Wintzingerode, Lydia; Watt, Amy; Wayhelova, Marketa; Wentzensen, Ingrid M; Wilson, William; Wojcik, Monica H; Yuan, Bo; Zampino, Giuseppe; Srivastava, Siddharth; Westphal, Dominik S; Riedhammer, Korbinian M; Joyce, Eric; Yadav, Rachita; Gusella, James; Tai, Derek J C; Sadikovic, Bekim; Pfeifer, Karl E; Talkowski, Michael E

Complex genetic variation in nearly complete human genomes

近乎完整的人类基因组中存在复杂的遗传变异

Logsdon, Glennis A; Ebert, Peter; Audano, Peter A; Loftus, Mark; Porubsky, David; Ebler, Jana; Yilmaz, Feyza; Hallast, Pille; Prodanov, Timofey; Yoo, DongAhn; Paisie, Carolyn A; Harvey, William T; Zhao, Xuefang; Martino, Gianni V; Henglin, Mir; Munson, Katherine M; Rabbani, Keon; Chin, Chen-Shan; Gu, Bida; Ashraf, Hufsah; Scholz, Stephan; Austine-Orimoloye, Olanrewaju; Balachandran, Parithi; Bonder, Marc Jan; Cheng, Haoyu; Chong, Zechen; Crabtree, Jonathan; Gerstein, Mark; Guethlein, Lisbeth A; Hasenfeld, Patrick; Hickey, Glenn; Hoekzema, Kendra; Hunt, Sarah E; Jensen, Matthew; Jiang, Yunzhe; Koren, Sergey; Kwon, Youngjun; Li, Chong; Li, Heng; Li, Jiaqi; Norman, Paul J; Oshima, Keisuke K; Paten, Benedict; Phillippy, Adam M; Pollock, Nicholas R; Rausch, Tobias; Rautiainen, Mikko; Song, Yuwei; Söylev, Arda; Sulovari, Arvis; Surapaneni, Likhitha; Tsapalou, Vasiliki; Zhou, Weichen; Zhou, Ying; Zhu, Qihui; Zody, Michael C; Mills, Ryan E; Devine, Scott E; Shi, Xinghua; Talkowski, Michael E; Chaisson, Mark J P; Dilthey, Alexander T; Konkel, Miriam K; Korbel, Jan O; Lee, Charles; Beck, Christine R; Eichler, Evan E; Marschall, Tobias

Author Correction: Complex genetic variation in nearly complete human genomes

作者更正:近乎完整的人类基因组中存在复杂的遗传变异

Logsdon, Glennis A; Ebert, Peter; Audano, Peter A; Loftus, Mark; Porubsky, David; Ebler, Jana; Yilmaz, Feyza; Hallast, Pille; Prodanov, Timofey; Yoo, DongAhn; Paisie, Carolyn A; Harvey, William T; Zhao, Xuefang; Martino, Gianni V; Henglin, Mir; Munson, Katherine M; Rabbani, Keon; Chin, Chen-Shan; Gu, Bida; Ashraf, Hufsah; Scholz, Stephan; Austine-Orimoloye, Olanrewaju; Balachandran, Parithi; Bonder, Marc Jan; Cheng, Haoyu; Chong, Zechen; Crabtree, Jonathan; Gerstein, Mark; Guethlein, Lisbeth A; Hasenfeld, Patrick; Hickey, Glenn; Hoekzema, Kendra; Hunt, Sarah E; Jensen, Matthew; Jiang, Yunzhe; Koren, Sergey; Kwon, Youngjun; Li, Chong; Li, Heng; Li, Jiaqi; Norman, Paul J; Oshima, Keisuke K; Paten, Benedict; Phillippy, Adam M; Pollock, Nicholas R; Rausch, Tobias; Rautiainen, Mikko; Song, Yuwei; Söylev, Arda; Sulovari, Arvis; Surapaneni, Likhitha; Tsapalou, Vasiliki; Zhou, Weichen; Zhou, Ying; Zhu, Qihui; Zody, Michael C; Mills, Ryan E; Devine, Scott E; Shi, Xinghua; Talkowski, Michael E; Chaisson, Mark J P; Dilthey, Alexander T; Konkel, Miriam K; Korbel, Jan O; Lee, Charles; Beck, Christine R; Eichler, Evan E; Marschall, Tobias

GREGoR: accelerating genomics for rare diseases

GREGoR:加速罕见病基因组学研究

Dawood, Moez; Heavner, Ben; Wheeler, Marsha M; Ungar, Rachel A; LoTempio, Jonathan; Wiel, Laurens; Berger, Seth; Bernstein, Jonathan A; Chong, Jessica X; Délot, Emmanuèle C; Eichler, Evan E; Lupski, James R; Shojaie, Ali; Talkowski, Michael E; Wagner, Alex H; Wei, Chia-Lin; Wellington, Christopher; Wheeler, Matthew T; Carvalho, Claudia M B; Gibbs, Richard A; Gifford, Casey A; May, Susanne; Miller, Danny E; Rehm, Heidi L; Samocha, Kaitlin E; Sedlazeck, Fritz J; Vilain, Eric; O'Donnell-Luria, Anne; Posey, Jennifer E; Chadwick, Lisa H; Bamshad, Michael J; Montgomery, Stephen B

Rare germline structural variants increase risk for pediatric solid tumors

罕见的种系结构变异会增加儿童实体瘤的风险

Gillani, Riaz; Collins, Ryan L; Crowdis, Jett; Garza, Amanda; Jones, Jill K; Walker, Mark; Sanchis-Juan, Alba; Whelan, Christopher W; Pierce-Hoffman, Emma; Talkowski, Michael E; Brand, Harrison; Haigis, Kevin; LoPiccolo, Jaclyn; AlDubayan, Saud H; Gusev, Alexander; Crompton, Brian D; Janeway, Katherine A; Van Allen, Eliezer M