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

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

Diagnostic Implications and Correlates of Plasma Adenosine Deaminase 2 Activity and ADA2 Variants

血浆腺苷脱氨酶2活性及ADA2变异体的诊断意义和相关性

Yue, Jian; LeSon, Courtney E; Rimland, Casey A; Brodeur, Kailey; Weng, Rachel; Hsu, Evan E; Lam, Michael T; Meyer, Manpreet; Okada, Seigo; Hsu, Andrew L D; Alhezam, Musaab A; Perron, Megan M; Halyabar, Olha; Dedeoglu, Fatma; Nigrovic, Peter A; Shimamura, Akiko; Rowe, R Grant; Cooper, Megan A; Vogel, Tiphanie P; Gillispie-Taylor, Miriah; Peterson, Rosemary; Lin, Clara; Nowicki, Katherine D; Dollerschell, Kaylee; Nakano, Taizo A; Labrosse, Roxane; Cochino, Alexis-Virgil; Ioan, Andreea; Mendonca, Leonardo Oliveira; Barros, Samar Freschi; Kalil, Jorge; Perez-Rojas, Javier; Diaz-Kuan, Alicia; Sobel, Eric S; Moussa, Taha; Lee, Samuel Shang Ming; Koh, Li Wearn; Khan, Archana; Sutnga, Sodality; Khubchandani, Raju; Shoman, Walaa; El Chazli, Yasmine; Pinto, Benzeeta; Kavadichanda, Chengappa; Abraham, Roshini S; Sun, Xiangwei; Zhou, Qing; Naidu, Gsrsnk; Sharma, Aman; Esperanzate, Carl; Kastner, Daniel L; Aksentijevich, Ivona; Kelly, Susan J; Hershfield, Michael; Tarrant, Teresa K; Lee, Pui Y

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

DNA O-MAP uncovers the molecular neighborhoods associated with specific genomic loci

DNA O-MAP揭示了与特定基因组位点相关的分子邻域

Liu, Yuzhen; McGann, Christopher D; Herlihy, Conor P; Krebs, Mary; Perkins, Thomas A; Fields, Rose; Camplisson, Conor K; Nwizugbo, David Z; Lin, Qiaoyi; Longhi, Nicolas J; Hsu, Chris; Avanessian, Shayan C; Tsue, Ashley F; Kania, Evan E; Shechner, David M; Beliveau, Brian J; Schweppe, Devin K

Virus-induced gene editing of stomatal regulators in Nicotiana benthamiana enables rapid functional genomics

利用病毒诱导的本氏烟草气孔调节基因编辑技术实现快速功能基因组学研究

Tibebu, Redeat; Gamo, Maria Elena; Ellison, Evan E; Myers, Erik A; Sahoo, Rishika; Winecke, Sydney R; Tan, Grace D; Fischer, James M; Leakey, Andrew D B; Voytas, Daniel F

Virus-mediated, heritable gene editing in groundcherry (Physalis grisea)

酸浆(Physalis grisea)病毒介导的可遗传基因编辑

Tibebu, Redeat; Ellison, Evan E; Winecke, Sydney R; Prichard, Lynn E; Klejeski, Nick; Donahue, Lilee I; Cody, Jon P; Baysal, Can; Starker, Colby G; Van Eck, Joyce; Voytas, Daniel F

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

Early exposure to PFAS disrupts neuro-muscular development in zebrafish embryos

早期接触 PFAS 会扰乱斑马鱼胚胎的神经肌肉发育。

Afzal, Zainab; Papas, Brian N; Veershetty, Vandana; Pittman, Evan E; Hatcher, Charles; Li, Jian-Liang; Casey, Warren; Kumar, Deepak