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

Ultra-deep duplex sequencing reveals unique features of somatic evolution in the normal tissues of a family with Li-Fraumeni syndrome

超深度双链测序揭示了李-弗劳梅尼综合征家族正常组织中体细胞进化的独特特征

Colegrove, Hunter L; Dubard-Gault, Marianne E; Marshall, Henry; Kohrn, Brendan F; Smith, Thomas H; Norgaard, Zachary K; Lo, Fang Yin; Schmidt, Elizabeth K; Higgins, Jacob E; Valentine, Charles C 3rd; Marshall, Desiree A; Clark, John I; Konnick, Eric Q; Salk, Jesse J; Horwitz, Marshall S; Rahbari, Raheleh; Feder, Alison F; Risques, Rosa Ana

Targeting the CD74 signaling axis suppresses inflammation and rescues defective hematopoiesis in RUNX1-familial platelet disorder

靶向 CD74 信号通路可抑制炎症并挽救 RUNX1 家族性血小板疾病中的造血功能缺陷

Mohammadhosseini, Mona; Enright, Trevor; Duvall, Adam; Chitsazan, Alex; Lin, Hsin-Yun; Ors, Aysegul; Davis, Brett A; Nikolova, Olga; Bresciani, Erica; Diemer, Jamie; Craft, Kathleen; Menezes, Ana Catarina; Merguerian, Matthew; Chong, Shawn; Calvo, Katherine R; Deuitch, Natalie T; Glushakow-Smith, Shira; Gritsman, Kira; Godley, Lucy A; Horwitz, Marshall S; Keel, Sioban; Castilla, Lucio H; Demir, Emek; Mohammed, Hisham; Liu, Paul; Agarwal, Anupriya

Germline copy number variants in RUNX1: An updated case report and a decade-old red herring

RUNX1基因的种系拷贝数变异:最新病例报告和十年前的误导性发现

Deuitch, Natalie T; Kajdic, Amra; Bresciani, Erica; Horwitz, Marshall S; Scott, Hamish S; Craft, Katie; Chong, Shawn; Young, David J; Godley, Lucy A; Liu, Paul P

Genetic and functional characterization of inherited complex chromosomal rearrangements in a family with multisystem anomalies

对一个患有多系统异常的家族中遗传性复杂染色体重排进行遗传和功能表征

Fang, He; Eacker, Stephen M; Wu, Yu; Neufeld-Kaiser, Whitney; Laurino, Mercy; Keel, Siobán; Horwitz, Marshall S; Liu, Yajuan J

Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease.

鸟苷酸激酶 1 缺乏症:一种新型且可能可治疗的线粒体 DNA 耗竭/缺失疾病

Hidalgo-Gutierrez Agustin, Shintaku Jonathan, Ramon Javier, Barriocanal-Casado Eliana, Pesini Alba, Saneto Russell P, Garrabou Gloria, Milisenda Jose Cesar, Matas-Garcia Ana, Gort Laura, Ugarteburu Olatz, Gu Yue, Koganti Lahari, Wang Tian, Tadesse Saba, Meneri Megi, Sciacco Monica, Wang Shuang, Tanji Kurenai, Horwitz Marshall S, Dorschner Michael O, Mansukhani Mahesh, Comi Giacomo Pietro, Ronchi Dario, Marti Ramon, Ribes Antonia, Tort Frederic, Hirano Michio

Simultaneous brain cell type and lineage determined by scRNA-seq reveals stereotyped cortical development

通过单细胞RNA测序同时确定脑细胞类型和谱系,揭示了皮层发育的模式化特征。

Anderson, Donovan J; Pauler, Florian M; McKenna, Aaron; Shendure, Jay; Hippenmeyer, Simon; Horwitz, Marshall S

RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML

RUNX1突变家族表现出表型异质性,并具有生殖系易感急性髓系白血病特有的体细胞突变谱。

Brown, Anna L; Arts, Peer; Carmichael, Catherine L; Babic, Milena; Dobbins, Julia; Chong, Chan-Eng; Schreiber, Andreas W; Feng, Jinghua; Phillips, Kerry; Wang, Paul P S; Ha, Thuong; Homan, Claire C; King-Smith, Sarah L; Rawlings, Lesley; Vakulin, Cassandra; Dubowsky, Andrew; Burdett, Jessica; Moore, Sarah; McKavanagh, Grace; Henry, Denae; Wells, Amanda; Mercorella, Belinda; Nicola, Mario; Suttle, Jeffrey; Wilkins, Ella; Li, Xiao-Chun; Michaud, Joelle; Brautigan, Peter; Cannon, Ping; Altree, Meryl; Jaensch, Louise; Fine, Miriam; Butcher, Carolyn; D'Andrea, Richard J; Lewis, Ian D; Hiwase, Devendra K; Papaemmanuil, Elli; Horwitz, Marshall S; Natsoulis, Georges; Rienhoff, Hugh Y; Patton, Nigel; Mapp, Sally; Susman, Rachel; Morgan, Susan; Cooney, Julian; Currie, Mark; Popat, Uday; Bochtler, Tilmann; Izraeli, Shai; Bradstock, Kenneth; Godley, Lucy A; Krämer, Alwin; Fröhling, Stefan; Wei, Andrew H; Forsyth, Cecily; Mar Fan, Helen; Poplawski, Nicola K; Hahn, Christopher N; Scott, Hamish S

Activating PAX gene family paralogs to complement PAX5 leukemia driver mutations.

激活 PAX 基因家族旁系同源基因以补充 PAX5 白血病驱动突变

Hart Matthew R, Anderson Donovan J, Porter Christopher C, Neff Tobias, Levin Michael, Horwitz Marshall S

GATA factor mutations in hematologic disease

血液疾病中的GATA因子突变

Crispino, John D; Horwitz, Marshall S

GATA2 deficiency and related myeloid neoplasms

GATA2 缺陷及相关髓系肿瘤

Wlodarski, Marcin W; Collin, Matthew; Horwitz, Marshall S