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

Antisense oligonucleotides to KIF1A polymorphisms expand targets and rescue patient-derived neurons in vitro.

针对 KIF1A 多态性的反义寡核苷酸可以扩大靶点,并在体外挽救患者来源的神经元。

Zuccaro Michael V, Young Randee E, Hu Jiangyuan, Lanzano Patricia, Semenova Ekaterina, Lin Xiaoqi, Skowronski Alicja, Shen Yufeng, Kim Tae Hyun, Miller Danny E, Germain Noelle, Sarmiere Patrick, LeDuc Charles A, Chung Wendy K

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 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

GREGoR: accelerating genomics for rare diseases

GREGoR:加速罕见病基因组学研究

Dawood, Moez; Heavner, Ben; Wheeler, Marsha M; Ungar, Rachel A; LoTempio, Jonathan; Wiel, Laurens; Berger, Seth; Bernstein, Jonathan A; Chong, Jessica X; Délot, Emmanuèle C; Eichler, Evan E; Lupski, James R; Shojaie, Ali; Talkowski, Michael E; Wagner, Alex H; Wei, Chia-Lin; Wellington, Christopher; Wheeler, Matthew T; Carvalho, Claudia M B; Gibbs, Richard A; Gifford, Casey A; May, Susanne; Miller, Danny E; Rehm, Heidi L; Samocha, Kaitlin E; Sedlazeck, Fritz J; Vilain, Eric; O'Donnell-Luria, Anne; Posey, Jennifer E; Chadwick, Lisa H; Bamshad, Michael J; Montgomery, Stephen B

Splice-modulating antisense oligonucleotides targeting a pathogenic intronic variant in adult polyglucosan body disease correct mis-splicing and restore enzyme activity in patient cells.

针对成人多聚葡萄糖体病致病性内含子变异的剪接调节反义寡核苷酸可纠正错误剪接并恢复患者细胞中的酶活性

Thomas Ria, Miyoshi Emily, Akman Hasan O, Storz Sophie H R, Goffena Joy, Pytte Julia, Miller Danny E, Skourti-Stathaki Konstantina, Crooke Stanley T

Bidirectional disruption of GNAS transcripts causes broad methylation defects in pseudohypoparathyroidism type 1B.

GNAS 转录本的双向破坏导致 1B 型假性甲状旁腺功能减退症中广泛的甲基化缺陷

Iwasaki Yorihiro, Reyes Monica, Ryabets-Lienhard Anna, Gales Barbara, Linglart Agnès, Miller Danny E, Salusky Isidro B, Bastepe Murat, Jüppner Harald

SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns

SeqFirst:为危重症新生儿构建公平获得精准基因诊断的机会

Wenger, Tara L; Scott, Abbey; Kruidenier, Lukas; Sikes, Megan; Keefe, Alexandra; Buckingham, Kati J; Marvin, Colby T; Shively, Kathryn M; Bacus, Tamara; Sommerland, Olivia M; Anderson, Kailyn; Gildersleeve, Heidi; Davis, Chayna J; Love-Nichols, Jamie; MacDuffie, Katherine E; Miller, Danny E; Yu, Joon-Ho; Snook, Amy; Johnson, Britt; Veenstra, David L; Parish-Morris, Julia; McWalter, Kirsty; Retterer, Kyle; Copenheaver, Deborah; Friedman, Bethany; Juusola, Jane; Ryan, Erin; Varga, Renee; Doherty, Daniel A; Dipple, Katrina; Chong, Jessica X; Kruszka, Paul; Bamshad, Michael J

Identification of GGC Repeat Expansions in ZFHX3 among Chilean Movement Disorder Patients

在智利运动障碍患者中鉴定出ZFHX3基因中的GGC重复扩增

Saffie-Awad, Paula; Moller, Abraham; Daida, Kensuke; Alvarez Jerez, Pilar; Chen, Zhongbo; Anderson, Zachary B; Isayan, Mariam; Paquette, Kimberly; Gibson, Sophia B; Fulcher, Madison; Miano-Burkhardt, Abigail; Malik, Laksh; Baker, Breeana; Jarreau, Paige; Houlden, Henry; Ryten, Mina; Gu, Bida; Chaisson, Mark J P; Miller, Danny E; Chaná-Cuevas, Pedro; Blauwendraat, Cornelis; Singleton, Andrew B; Billingsley, Kimberley J

Patterns of crossover distribution in Drosophila mauritiana necessitate a re-thinking of the centromere effect on crossing over

毛里求斯果蝇(Drosophila mauritiana)的交叉分布模式表明,有必要重新思考着丝粒对交叉的影响。

Hawley, R Scott; Price, Andrew; Li, Hua; Jagannathan, Madhav; Staber, Cynthia; Hughes, Stacie E; Williams, Stefanie; Perera, Anoja; Egidy, Rhonda R; Lawlor, Amanda; Miller, Danny E; Blumenstiel, Justin P

Hydraulic Safety Mechanisms Override Traditional Wood Economics in Hyper-Arid Environments

在极度干旱的环境下,水力安全机制凌驾于传统的木材经济之上。

Rios, Rodrigo S; Silva Rojas, Bárbara; Carvajal, Danny E; Loayza, Andrea P