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

Expanding the phenotypic spectrum of CSNK2A1-associated Okur-Chung neurodevelopmental syndrome

扩展CSNK2A1相关Okur-Chung神经发育综合征的表型谱

Ramadesikan, Swetha; Showpnil, Iftekhar A; Marhabaie, Mohammad; Daley, Allison; Varga, Elizabeth A; Gurusamy, Umamaheswaran; Pastore, Matthew T; Sites, Emily R; Manickam, Murugu; Bartholomew, Dennis W; Hunter, Jesse M; White, Peter; Wilson, Richard K; Stottmann, Rolf W; Koboldt, Daniel C

Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes

长读长基因组测序能够解析罕见遗传综合征中复杂的基因组重排。

Showpnil, Iftekhar A; E Hernandez Gonzalez, Maria; Ramadesikan, Swetha; Marhabaie, Mohammad; Daley, Allison; Dublin-Ryan, Leeran; Pastore, Matthew T; Gurusamy, Umamaheswaran; Hunter, Jesse M; Stone, Brandon S; Bartholomew, Dennis W; Manickam, Kandamurugu; Miller, Anthony R; Wilson, Richard K; Stottmann, Rolf W; Koboldt, Daniel C

Germline susceptibility from broad genomic profiling of pediatric brain cancers

通过对儿童脑癌进行广泛的基因组分析,揭示种系易感性

Mardis, Elaine R; Potter, Samara L; Schieffer, Kathleen M; Varga, Elizabeth A; Mathew, Mariam T; Costello, Heather M; Wheeler, Gregory; Kelly, Benjamin J; Miller, Katherine E; Garfinkle, Elizabeth A R; Wilson, Richard K; Cottrell, Catherine E

Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review

HTRA2基因双等位基因变异导致3-甲基戊二酸尿症线粒体疾病:病例报告及文献综述

Gurusamy, Umamaheswaran; Ramadesikan, Swetha; Marhabaie, Mohammad; Colwell, Caitlyn M; Hunter, Jesse M; Leung, Marco L; Mardis, Elaine R; White, Peter; Manickam, Murugu; Wilson, Richard K; Koboldt, Daniel C

Author Correction: Comparative and demographic analysis of orang-utan genomes

作者更正:猩猩基因组的比较和人口统计分析

Locke, Devin P; Hillier, LaDeana W; Warren, Wesley C; Worley, Kim C; Nazareth, Lynne V; Muzny, Donna M; Yang, Shiaw-Pyng; Wang, Zhengyuan; Chinwalla, Asif T; Minx, Pat; Mitreva, Makedonka; Cook, Lisa; Delehaunty, Kim D; Fronick, Catrina; Schmidt, Heather; Fulton, Lucinda A; Fulton, Robert S; Nelson, Joanne O; Magrini, Vincent; Pohl, Craig; Graves, Tina A; Markovic, Chris; Cree, Andy; Dinh, Huyen H; Hume, Jennifer; Kovar, Christie L; Fowler, Gerald R; Lunter, Gerton; Meader, Stephen; Heger, Andreas; Ponting, Chris P; Marques-Bonet, Tomas; Alkan, Can; Chen, Lin; Cheng, Ze; Kidd, Jeffrey M; Eichler, Evan E; White, Simon; Searle, Stephen; Vilella, Albert J; Chen, Yuan; Flicek, Paul; Ma, Jian; Raney, Brian; Suh, Bernard; Burhans, Richard; Herrero, Javier; Haussler, David; Faria, Rui; Fernando, Olga; Darré, Fleur; Farré, Domènec; Gazave, Elodie; Oliva, Meritxell; Navarro, Arcadi; Roberto, Roberta; Capozzi, Oronzo; Archidiacono, Nicoletta; Della Valle, Giuliano; Purgato, Stefania; Rocchi, Mariano; Konkel, Miriam K; Walker, Jerilyn A; Ullmer, Brygg; Batzer, Mark A; Smit, Arian F A; Hubley, Robert; Casola, Claudio; Schrider, Daniel R; Hahn, Matthew W; Quesada, Victor; Puente, Xose S; Ordoñez, Gonzalo R; López-Otín, Carlos; Vinar, Tomas; Brejova, Brona; Ratan, Aakrosh; Harris, Robert S; Miller, Webb; Kosiol, Carolin; Lawson, Heather A; Taliwal, Vikas; Martins, André L; Siepel, Adam; RoyChoudhury, Arindam; Ma, Xin; Degenhardt, Jeremiah; Bustamante, Carlos D; Gutenkunst, Ryan N; Mailund, Thomas; Dutheil, Julien Y; Hobolth, Asger; Schierup, Mikkel H; Ryder, Oliver A; Yoshinaga, Yuko; de Jong, Pieter J; Weinstock, George M; Rogers, Jeffrey; Mardis, Elaine R; Gibbs, Richard A; Wilson, Richard K

Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenic RELA variant

病例报告及文献综述:由新型致病性 RELA 变异引起的大型家族队列免疫失调

Lecerf, Kelsey; Koboldt, Daniel C; Kuehn, Hye Sun; Jayaraman, Vijayakumar; Lee, Kristy; Mihalic Mosher, Theresa; Yonkof, Jennifer R; Mori, Mari; Hickey, Scott E; Franklin, Samuel; Drew, Joanne; Akoghlanian, Shoghik; Sivaraman, Vidya; Rosenzweig, Sergio D; Wilson, Richard K; Abraham, Roshini S

Genomic and transcriptomic somatic alterations of hepatocellular carcinoma in non-cirrhotic livers

非肝硬化肝脏中肝细胞癌的基因组和转录组体细胞改变

Skidmore, Zachary L; Kunisaki, Jason; Lin, Yiing; Cotto, Kelsy C; Barnell, Erica K; Hundal, Jasreet; Krysiak, Kilannin; Magrini, Vincent; Trani, Lee; Walker, Jason R; Fulton, Robert; Brunt, Elizabeth M; Miller, Christopher A; Wilson, Richard K; Mardis, Elaine R; Griffith, Malachi; Chapman, William; Griffith, Obi L

Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease

两名患有2D型脑桥小脑发育不全的同胞兄弟姐妹的双等位基因SEPSECS变异凸显了剪接破坏性同义变异在疾病中的重要性。

Ramadesikan, Swetha; Hickey, Scott; De Los Reyes, Emily; Patel, Anup D; Franklin, Samuel J; Brennan, Patrick; Crist, Erin; Lee, Kristy; White, Peter; McBride, Kim L; Koboldt, Daniel C; Wilson, Richard K

Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder

遗传性和新发变异扩展了TAOK1相关神经发育障碍的病因。

Hunter, Jesse M; Massingham, Lauren J; Manickam, Kandamurugu; Bartholomew, Dennis; Williamson, Rachel K; Schwab, Jennifer L; Marhabaie, Mohammad; Siemon, Amy; de Los Reyes, Emily; Reshmi, Shalini C; Cottrell, Catherine E; Wilson, Richard K; Koboldt, Daniel C

De novo missense mutation in GRIA2 in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathy

一名患有全面发育迟缓、自闭症谱系障碍和癫痫性脑病的患者,其GRIA2基因存在新生错义突变。

Latsko, Maeson S; Koboldt, Daniel C; Franklin, Samuel J; Hickey, Scott E; Williamson, Rachel K; Garner, Shannon; Ostendorf, Adam P; Lee, Kristy; White, Peter; Wilson, Richard K