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

Muscle transcriptome profiling reveals novel molecular pathways and biomarkers in laminin-α2 deficient patients

肌肉转录组分析揭示了层粘连蛋白α2缺陷患者的新分子通路和生物标志物

Pini, Veronica; Catapano, Francesco; Bonaccorso, Rosa; Weisburd, Ben; Previtali, Stefano C; Muntoni, Francesco

Benchmarking RNA-seq Tools for Real-World Diagnostic Applications

RNA-seq 工具在实际诊断应用中的基准测试

Silverstein, Sarah; Ganapathy, Kaushik; Donkervoort, Sandra; Bolduc, Veronique; Hu, Ying; Moy, Justin; Uapinyoying, Prech; Gorokhova, Svetlana; Ganesh, Vijay; Weisburd, Ben; OrBach, Rotem; Foley, A Reghan; Mohammadi, Pejman; Adams, David; Bonnemann, Carsten

Benchmarking RNA-seq Tools for Real-World Diagnostic Applications

RNA-seq 工具在实际诊断应用中的基准测试

Silverstein, Sarah; Ganapathy, Kaushik R; Donkervoort, Sandra; Bolduc, Véronique; Hu, Ying; Moy, Justin; Uapinyoying, Prech; Gorokhova, Svetlana; Ganesh, Vijay; Weisburd, Ben; Orbach, Rotem; Foley, A Reghan; Mohammadi, Pejman; Adams, David R; Bönnemann, Carsten G

A comprehensive assessment of tandem repeat genotyping methods for Nanopore long-read genomes

对纳米孔长读长基因组串联重复序列基因分型方法的全面评估

Aliyev, Elbay; Avvaru, Akshay; De Coster, Wouter; Arner, Garrison M; Nyaga, Denis M; Gibson, Sophia B; Weisburd, Ben; Gu, Bida; Gonzaga-Jauregui, Claudia; Chaisson, Mark J P; Miller, Danny E; Ostrowski, Elizabeth; Dashnow, Harriet

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

Base editing of trinucleotide repeats that cause Huntington's disease and Friedreich's ataxia reduces somatic repeat expansions in patient cells and in mice

对导致亨廷顿病和弗里德赖希共济失调的三核苷酸重复序列进行碱基编辑,可以减少患者细胞和小鼠体内的体细胞重复序列扩增。

Zaneta Matuszek #,Mandana Arbab #,Maheswaran Kesavan,Alvin Hsu,Jennie C L Roy,Jing Zhao,Tian Yu,Ben Weisburd,Gregory A Newby,Neil J Doherty,Muzhou Wu,Shota Shibata,Ana Cristian,Y Allen Tao,Liam G Fearnley,Melanie Bahlo,Heidi L Rehm,Jun Xie,Guangping Gao,Ricardo Mouro Pinto,David R Liu

STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci

STRchive:一个动态资源,详细介绍串联重复疾病位点的群体水平和位点特异性见解

Hiatt, Laurel; Weisburd, Ben; Dolzhenko, Egor; Rubinetti, Vincent; Avvaru, Akshay K; VanNoy, Grace E; Kurtas, Nehir Edibe; Rehm, Heidi L; Quinlan, Aaron R; Dashnow, Harriet

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders

拓展眼部先天性颅神经支配异常疾病的遗传学和表型研究

Jurgens, Julie A; Barry, Brenda J; Chan, Wai-Man; MacKinnon, Sarah; Whitman, Mary C; Matos Ruiz, Paola M; Pratt, Brandon M; England, Eleina M; Pais, Lynn; Lemire, Gabrielle; Groopman, Emily; Glaze, Carmen; Russell, Kathryn A; Singer-Berk, Moriel; Di Gioia, Silvio Alessandro; Lee, Arthur S; Andrews, Caroline; Shaaban, Sherin; Wirth, Megan M; Bekele, Sarah; Toffoloni, Melissa; Bradford, Victoria R; Foster, Emma E; Berube, Lindsay; Rivera-Quiles, Cristina; Mensching, Fiona M; Sanchis-Juan, Alba; Fu, Jack M; Wong, Isaac; Zhao, Xuefang; Wilson, Michael W; Weisburd, Ben; Lek, Monkol; Brand, Harrison; Talkowski, Michael E; MacArthur, Daniel G; O'Donnell-Luria, Anne; Robson, Caroline D; Hunter, David G; Engle, Elizabeth C

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets

利用基因组、外显子组和panel测序数据集诊断漏诊的脊髓性肌萎缩症病例

Weisburd, Ben; Sharma, Rakshya; Pata, Villem; Reimand, Tiia; Ganesh, Vijay S; Austin-Tse, Christina; Osei-Owusu, Ikeoluwa; O'Heir, Emily; O'Leary, Melanie; Pais, Lynn; Stafki, Seth A; Daugherty, Audrey L; Folland, Chiara; Peric, Stojan; Fahmy, Nagia; Udd, Bjarne; Horáková, Magda; Łusakowska, Anna; Manoj, Rajanna; Nalini, Atchayaram; Karcagi, Veronika; Polavarapu, Kiran; Lochmüller, Hanns; Horvath, Rita; Bönnemann, Carsten G; Donkervoort, Sandra; Haliloğlu, Göknur; Herguner, Ozlem; Kang, Peter B; Ravenscroft, Gianina; Laing, Nigel; Scott, Hamish S; Töpf, Ana; Straub, Volker; Pajusalu, Sander; Õunap, Katrin; Tiao, Grace; Rehm, Heidi L; O'Donnell-Luria, Anne

Significant underascertainment in Huntington's disease

亨廷顿病存在严重的漏诊现象

Lee, Sujin; Weisburd, Ben; Lee, Jiwoo; Correia, Kevin; Zeng, Sophia; Park, Seri S; Shin, Jun Wan; Choi, Doo Eun; Kim, Kyung-Hee; Jang, Jae-Hyun; Gillis, Tammy; Rehm, Heidi L; Gusella, James F; MacDonald, Marcy E; Lee, Jong-Min