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

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

p53 enhances DNA repair and suppresses cytoplasmic chromatin fragments and inflammation in senescent cells

p53 增强 DNA 修复并抑制衰老细胞中的细胞质染色质碎片和炎症

Karl N Miller, Brightany Li, Hannah R Pierce-Hoffman, Shreeya Patel, Xue Lei, Adarsh Rajesh, Marcos G Teneche, Aaron P Havas, Armin Gandhi, Carolina Cano Macip, Jun Lyu, Stella G Victorelli, Seung-Hwa Woo, Anthony B Lagnado, Michael A LaPorta, Tianhui Liu, Nirmalya Dasgupta, Sha Li, Andrew Davis, An

Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies

系统评价基因组测序在自闭症谱系障碍和胎儿结构异常诊断中的应用

Lowther, Chelsea; Valkanas, Elise; Giordano, Jessica L; Wang, Harold Z; Currall, Benjamin B; O'Keefe, Kathryn; Pierce-Hoffman, Emma; Kurtas, Nehir E; Whelan, Christopher W; Hao, Stephanie P; Weisburd, Ben; Jalili, Vahid; Fu, Jack; Wong, Isaac; Collins, Ryan L; Zhao, Xuefang; Austin-Tse, Christina A; Evangelista, Emily; Lemire, Gabrielle; Aggarwal, Vimla S; Lucente, Diane; Gauthier, Laura D; Tolonen, Charlotte; Sahakian, Nareh; Stevens, Christine; An, Joon-Yong; Dong, Shan; Norton, Mary E; MacKenzie, Tippi C; Devlin, Bernie; Gilmore, Kelly; Powell, Bradford C; Brandt, Alicia; Vetrini, Francesco; DiVito, Michelle; Sanders, Stephan J; MacArthur, Daniel G; Hodge, Jennelle C; O'Donnell-Luria, Anne; Rehm, Heidi L; Vora, Neeta L; Levy, Brynn; Brand, Harrison; Wapner, Ronald J; Talkowski, Michael E

Genome-Wide Analysis of Structural Variants in Parkinson Disease

帕金森病结构变异的全基因组分析

Billingsley, Kimberley J; Ding, Jinhui; Jerez, Pilar Alvarez; Illarionova, Anastasia; Levine, Kristin; Grenn, Francis P; Makarious, Mary B; Moore, Anni; Vitale, Daniel; Reed, Xylena; Hernandez, Dena; Torkamani, Ali; Ryten, Mina; Hardy, John; Chia, Ruth; Scholz, Sonja W; Traynor, Bryan J; Dalgard, Clifton L; Ehrlich, Debra J; Tanaka, Toshiko; Ferrucci, Luigi; Beach, Thomas G; Serrano, Geidy E; Quinn, John P; Bubb, Vivien J; Collins, Ryan L; Zhao, Xuefang; Walker, Mark; Pierce-Hoffman, Emma; Brand, Harrison; Talkowski, Michael E; Casey, Bradford; Cookson, Mark R; Markham, Androo; Nalls, Mike A; Mahmoud, Medhat; Sedlazeck, Fritz J; Blauwendraat, Cornelis; Gibbs, J Raphael; Singleton, Andrew B

Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans

作者更正:突变约束谱是基于141,456名人类的变异量化的。

Karczewski, Konrad J; Francioli, Laurent C; Tiao, Grace; Cummings, Beryl B; Alföldi, Jessica; Wang, Qingbo; Collins, Ryan L; Laricchia, Kristen M; Ganna, Andrea; Birnbaum, Daniel P; Gauthier, Laura D; Brand, Harrison; Solomonson, Matthew; Watts, Nicholas A; Rhodes, Daniel; Singer-Berk, Moriel; England, Eleina M; Seaby, Eleanor G; Kosmicki, Jack A; Walters, Raymond K; Tashman, Katherine; Farjoun, Yossi; Banks, Eric; Poterba, Timothy; Wang, Arcturus; Seed, Cotton; Whiffin, Nicola; Chong, Jessica X; Samocha, Kaitlin E; Pierce-Hoffman, Emma; Zappala, Zachary; O'Donnell-Luria, Anne H; Minikel, Eric Vallabh; Weisburd, Ben; Lek, Monkol; Ware, James S; Vittal, Christopher; Armean, Irina M; Bergelson, Louis; Cibulskis, Kristian; Connolly, Kristen M; Covarrubias, Miguel; Donnelly, Stacey; Ferriera, Steven; Gabriel, Stacey; Gentry, Jeff; Gupta, Namrata; Jeandet, Thibault; Kaplan, Diane; Llanwarne, Christopher; Munshi, Ruchi; Novod, Sam; Petrillo, Nikelle; Roazen, David; Ruano-Rubio, Valentin; Saltzman, Andrea; Schleicher, Molly; Soto, Jose; Tibbetts, Kathleen; Tolonen, Charlotte; Wade, Gordon; Talkowski, Michael E; Neale, Benjamin M; Daly, Mark J; MacArthur, Daniel G

Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans

附录:基于141,456名人类变异量化的突变约束谱

Gudmundsson, Sanna; Karczewski, Konrad J; Francioli, Laurent C; Tiao, Grace; Cummings, Beryl B; Alföldi, Jessica; Wang, Qingbo; Collins, Ryan L; Laricchia, Kristen M; Ganna, Andrea; Birnbaum, Daniel P; Gauthier, Laura D; Brand, Harrison; Solomonson, Matthew; Watts, Nicholas A; Rhodes, Daniel; Singer-Berk, Moriel; England, Eleina M; Seaby, Eleanor G; Kosmicki, Jack A; Walters, Raymond K; Tashman, Katherine; Farjoun, Yossi; Banks, Eric; Poterba, Timothy; Wang, Arcturus; Seed, Cotton; Whiffin, Nicola; Chong, Jessica X; Samocha, Kaitlin E; Pierce-Hoffman, Emma; Zappala, Zachary; O'Donnell-Luria, Anne H; Minikel, Eric Vallabh; Weisburd, Ben; Lek, Monkol; Ware, James S; Vittal, Christopher; Armean, Irina M; Bergelson, Louis; Cibulskis, Kristian; Connolly, Kristen M; Covarrubias, Miguel; Donnelly, Stacey; Ferriera, Steven; Gabriel, Stacey; Gentry, Jeff; Gupta, Namrata; Jeandet, Thibault; Kaplan, Diane; Llanwarne, Christopher; Munshi, Ruchi; Novod, Sam; Petrillo, Nikelle; Roazen, David; Ruano-Rubio, Valentin; Saltzman, Andrea; Schleicher, Molly; Soto, Jose; Tibbetts, Kathleen; Tolonen, Charlotte; Wade, Gordon; Talkowski, Michael E; Neale, Benjamin M; Daly, Mark J; MacArthur, Daniel G

Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

作者更正:125,748 个人类外显子组和 15,708 个基因组中的多核苷酸变异图谱

Wang, Qingbo; Pierce-Hoffman, Emma; Cummings, Beryl B; Alföldi, Jessica; Francioli, Laurent C; Gauthier, Laura D; Hill, Andrew J; O'Donnell-Luria, Anne H; Karczewski, Konrad J; MacArthur, Daniel G

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

从头突变的TRIM8基因变异会损害其蛋白在核内的定位,并导致发育迟缓、癫痫和局灶节段性肾小球硬化症。

Weng, Patricia L; Majmundar, Amar J; Khan, Kamal; Lim, Tze Y; Shril, Shirlee; Jin, Gina; Musgrove, John; Wang, Minxian; Ahram, Dina F; Aggarwal, Vimla S; Bier, Louise E; Heinzen, Erin L; Onuchic-Whitford, Ana C; Mann, Nina; Buerger, Florian; Schneider, Ronen; Deutsch, Konstantin; Kitzler, Thomas M; Klämbt, Verena; Kolb, Amy; Mao, Youying; Moufawad El Achkar, Christelle; Mitrotti, Adele; Martino, Jeremiah; Beck, Bodo B; Altmüller, Janine; Benz, Marcus R; Yano, Shoji; Mikati, Mohamad A; Gunduz, Talha; Cope, Heidi; Shashi, Vandana; Trachtman, Howard; Bodria, Monica; Caridi, Gianluca; Pisani, Isabella; Fiaccadori, Enrico; AbuMaziad, Asmaa S; Martinez-Agosto, Julian A; Yadin, Ora; Zuckerman, Jonathan; Kim, Arang; John-Kroegel, Ulrike; Tyndall, Amanda V; Parboosingh, Jillian S; Innes, A Micheil; Bierzynska, Agnieszka; Koziell, Ania B; Muorah, Mordi; Saleem, Moin A; Hoefele, Julia; Riedhammer, Korbinian M; Gharavi, Ali G; Jobanputra, Vaidehi; Pierce-Hoffman, Emma; Seaby, Eleanor G; O'Donnell-Luria, Anne; Rehm, Heidi L; Mane, Shrikant; D'Agati, Vivette D; Pollak, Martin R; Ghiggeri, Gian Marco; Lifton, Richard P; Goldstein, David B; Davis, Erica E; Hildebrandt, Friedhelm; Sanna-Cherchi, Simone

The mutational constraint spectrum quantified from variation in 141,456 humans

通过对 141,456 名人类的变异进行量化,确定了突变约束谱。

Karczewski, Konrad J; Francioli, Laurent C; Tiao, Grace; Cummings, Beryl B; Alföldi, Jessica; Wang, Qingbo; Collins, Ryan L; Laricchia, Kristen M; Ganna, Andrea; Birnbaum, Daniel P; Gauthier, Laura D; Brand, Harrison; Solomonson, Matthew; Watts, Nicholas A; Rhodes, Daniel; Singer-Berk, Moriel; England, Eleina M; Seaby, Eleanor G; Kosmicki, Jack A; Walters, Raymond K; Tashman, Katherine; Farjoun, Yossi; Banks, Eric; Poterba, Timothy; Wang, Arcturus; Seed, Cotton; Whiffin, Nicola; Chong, Jessica X; Samocha, Kaitlin E; Pierce-Hoffman, Emma; Zappala, Zachary; O'Donnell-Luria, Anne H; Minikel, Eric Vallabh; Weisburd, Ben; Lek, Monkol; Ware, James S; Vittal, Christopher; Armean, Irina M; Bergelson, Louis; Cibulskis, Kristian; Connolly, Kristen M; Covarrubias, Miguel; Donnelly, Stacey; Ferriera, Steven; Gabriel, Stacey; Gentry, Jeff; Gupta, Namrata; Jeandet, Thibault; Kaplan, Diane; Llanwarne, Christopher; Munshi, Ruchi; Novod, Sam; Petrillo, Nikelle; Roazen, David; Ruano-Rubio, Valentin; Saltzman, Andrea; Schleicher, Molly; Soto, Jose; Tibbetts, Kathleen; Tolonen, Charlotte; Wade, Gordon; Talkowski, Michael E; Neale, Benjamin M; Daly, Mark J; MacArthur, Daniel G

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

125,748 个人类外显子组和 15,708 个基因组中的多核苷酸变异图谱

Wang, Qingbo; Pierce-Hoffman, Emma; Cummings, Beryl B; Alföldi, Jessica; Francioli, Laurent C; Gauthier, Laura D; Hill, Andrew J; O'Donnell-Luria, Anne H; Karczewski, Konrad J; MacArthur, Daniel G