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

Using the linear references from the pangenome to discover missing autism variants.

利用泛基因组的线性参考序列来发现缺失的自闭症变异。

Sui Yang, Lin Jiadong, Noyes Michelle D, Kwon Youngjun, Wong Isaac, Koundinya Nidhi, Harvey William T, Wu Mei, Hoekzema Kendra, Munson Katherine M, Garcia Gage H, Knuth Jordan, Wertz Julie, Wang Tianyun, Hennick Kelsey, Karunakaran Druha, Polo Prieto Rafael A, Meyer-Schuman Rebecca, Cherry Fisher, Pehlivan Davut, Suter Bernhard, Gustafson Jonas A, Miller Danny E, Berk-Rauch Hanna, Nowakowski Tomasz J, Chakravarti Aravinda, Zoghbi Huda Y, Eichler Evan E

Predicting Macrophage Spatial Localization from Single-Cell Transcriptomes to Uncover Disease Mechanisms

利用单细胞转录组预测巨噬细胞空间定位以揭示疾病机制

Yin, Junping; Mei, Qi; Paust, Hans-Joachim; Song, Ning; Zhao, Yu; Klaus, Daniela; Eichler, Melanie; Hua, Yijun; Qin, Jie; Cheng, Weiting; Weisheit, Christina K; Lukacs-Kornek, Veronika; Ludwig-Portugall, Isis; von Vietinghoff, Sibylle; Krebs, Christian F; Klughammer, Johanna; Panzer, Ulf; Kurts, Christian; Li, Jian

A novel spliceosomopathy caused by de novo SF3B3 variants.

一种由新生SF3B3变异引起的新型剪接体病。

Musante Luciana, Janos Pavel, Pianigiani Giulia, Cappelli Sara, Longo Alessandra, Alves Carolina, Schwaibold Eva Mc, Wagner Matias, Costain Gregory, Fridriksdottir Run, Stefansson Kari, Sulem Patrick, Lichtenbelt Klaske D, van Binsbergen Ellen, van Jaarsveld Richard H, Brusco Alfredo, Pavinato Lisa, Biamino Elisa, Spano Alessandra, Hildebrandt Clara C, Chan Yee-Ming, Groopman Emily, Berkenstadt Michal, Koboldt Daniel, Williamson Rachel, Brunner Han G, Vissers Lisenka Elm, Torring Pernille M, Hao Qin, Gelb Bruce D, Goldmuntz Elizabeth, Reed Kristen, Bedoukian Emma C, Vecchio Davide, Salzano Emanuela, Piccione Maria, Zanus Caterina, Mio Catia, Eichler Evan E, Wang Tianyun, Patterson Wesley G, Butler Kameryn M, Piotrowski Mattie, Mercier Sandra, Cogné Benjamin, Wentzensen Ingrid M, Buratti Emanuele, Magistrato Alessandra, Faletra Flavio

Incomplete lineage sorting of segmental duplications defines the human chromosome 2 fusion site early during African great ape speciation

不完全谱系分选导致片段重复序列在非洲大型猿类物种形成早期就确定了人类2号染色体的融合位点。

Yang, Zikun; Zhang, Lu; Jiang, Xinrui; Yang, Xiangyu; Ma, Kaiyue; Yoo, DongAhn; Lu, Yong; Zhang, Shilong; Chen, Jieyi; Nie, Yanhong; Bian, Xinyan; Han, Junmin; Fu, Lianting; Zhang, Juan; Ventura, Mario; Zhang, Guojie; Sun, Qiang; Eichler, Evan E; Mao, Yafei

The human IG heavy chain constant gene locus is enriched for large structural variants and coding polymorphisms that vary among human populations.

人类免疫球蛋白重链恒定区基因位点富含大型结构变异和编码多态性,这些变异和多态性在人类群体中存在差异。

Jana Uddalok, Rodriguez Oscar L, Lees William, Engelbrecht Eric, Vanwinkle Zach, Peres Ayelet, Gibson William S, Shields Kaitlyn, Schultze Steven, Dorgham Abdullah, Emery Matthew, Deikus Gintaras, Sebra Robert, Eichler Evan E, Yaari Gur, Smith Melissa L, Watson Corey T

STARD3 regulates lysosome positioning and contacts via a GSK3-controlled phosphorylation switch.

STARD3 通过 GSK3 控制的磷酸化开关调节溶酶体的定位和接触。

Eichler Julie, Wendling Corinne, Huver Sophie, Zouiouich Mehdi, Hanss Victor, Cardinal Anna, Fimbel Victoria, Birck Catherine, McEwen Alastair G, Knorr Céline, Fromental-Ramain Catherine, Boutry Maxime, Chenard Marie-Pierre, Drin Guillaume, Tomasetto Catherine, Alpy Fabien

Thrombin generation to predict breakthrough bleeding in patients with acquired hemophilia A under emicizumab prophylaxis

凝血酶生成用于预测接受艾美赛珠单抗预防治疗的获得性血友病A患者的突破性出血

Pelzer, Fabius J; Ertekin, Ella I; Oleshko, Olga; Klingberg, Annika; Knöbl, Paul; Pfrepper, Christian; Greil, Richard; Oldenburg, Johannes; Sachs, Ulrich J; Miesbach, Wolfgang; Trautmann-Grill, Karolin; Holstein, Katharina; Eichler, Hermann; Möhnle, Patrick; Hart, Christina; Klamroth, Robert; Tiede, Andreas; Werwitzke, Sonja

Opportunistic osteoporosis assessment from routine CT-effect of intravenous contrast agents on absolute values, T-scores, and derived classifications in single- and dual-energy CT

利用常规CT进行机会性骨质疏松症评估——静脉注射造影剂对单能量和双能量CT中绝对值、T值和衍生分类的影响

Gotta, Jennifer; Koch, Vitali; Mahmoudi, Scherwin; Martin, Simon S; Scholtz, Jan Erik; Booz, Christian; Eichler, Katrin; Bernatz, Simon; Reschke, Philipp; Gruber-Rouh, Tatjana; D'Angelo, Tommaso; Vogl, Thomas J; Gruenewald, Leon D

Impact of Tau overexpression on DNA replication dynamics in centromeres of human neural progenitor cells.

Tau 蛋白过表达对人类神经祖细胞着丝粒 DNA 复制动力学的影响。

Balzano Elisa, Twayana Shyam, Kosiyatrakul Settapong T, Logsdon Glennis A, Thakur Bhushan L, Eichler Evan E, Bohl Bettina, Koch Philipp, Sidoli Simone, Kumari Anupama, Munson Katherine M, Hoekzema Kendra, Aladjem Mirit I, Schildkraut Carl L

Living with adrenoleukodystrophy: adult patient and caregiver perspectives

与肾上腺脑白质营养不良症共存:成年患者和照护者的视角

Fine, Amena Smith; Sullivan-Fortin, Kathleen O'; Miettunen, Kelly; Emerson, Felicity; Sadjadi, Reza; Fatemi, Ali; Eichler, Florian