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

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

Long-read sequencing is required for precision diagnosis of incontinentia pigmenti

长读长测序是色素失禁症精准诊断的必要条件。

Wojcik, Monica H; Clark, Robin D; Elias, Abdallah F; Genetti, Casie A; Madden, Jill A; Simpson, Dana; Golkar, Linda; Zalusky, Miranda P G; Miller, Angela L; Rodriguez, Araceli; Goffena, Joy; Dash, Camille A; Damaraju, Nikhita; Gibson, Sophia B; Storz, Sophie H R; Anderson, Zachary B; Gustafson, Jonas A; Thiffault, Isabelle; Farrow, Emily G; Pastinen, Tomi; Lin, Jasmine; Huang, Jennifer T; Beggs, Alan H; Agrawal, Pankaj B; Miller, David T; Miller, Danny E

Concordance of Whole-Genome Long-Read Sequencing with Standard Clinical Testing for Prader-Willi and Angelman Syndromes

全基因组长读长测序与普拉德-威利综合征和安格曼综合征标准临床检测的一致性

Paschal, Cate R; Zalusky, Miranda P G; Beck, Anita E; Gillentine, Madelyn A; Narayanan, Jaya; Damaraju, Nikhita; Goffena, Joy; Storz, Sophie H R; Miller, Danny E

Deep Intronic SVA_E Insertion Identified as the Most Common Pathogenic Variant Associated With Canavan Disease: A Diagnostic Blind Spot

深内含子SVA_E插入被确定为与卡纳万病相关的最常见致病变异:诊断盲点

Carlos A Dominguez Gonzalez ,Katrina M Bell ,Ramakrishnan Rajagopalan ,Michelle G de Silva ,Aída Lemes ,Cristina Zabala ,Florencia Pérez-Vidarte ,Alfredo Cerisola ,Arastoo Vossough ,Matthew T Whitehead ,Chloe Cunningham ,Natasha J Brown ,Rebecca Quin ,Cas Simons ,Thomas Conway ,Eloise Uebergang ,Rocio Rius ,Meutia A Kumaheri ,Emma R Kotes ,Ananya Vohra ,Miranda P G Zalusky ,Zachary B Anderson ,Sophie H R Storz ,Sydney A Ward ,Joy Goffena ,Jonas A Gustafson ,Susan M White ,Adeline Vanderver ,Danny E Miller

Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti

长读长测序是色素失禁症精准诊断的必要条件

Wojcik, Monica H; Clark, Robin D; Elias, Abdallah F; Genetti, Casie A; Madden, Jill A; Simpson, Dana; Golkar, Linda; Zalusky, Miranda Pg; Miller, Angela L; Rodriguez, Araceli; Goffena, Joy; Dash, Camille A; Damaraju, Nikhita; Gibson, Sophia B; Storz, Sophia Hr; Anderson, Zach; Gustafson, Jonas A; Thiffault, Isabelle; Farrow, Emily G; Pastinen, Tomi; Lin, Jasmine; Huang, Jennifer; Beggs, Alan H; Agrawal, Pankaj B; Miller, David T; Miller, Danny E

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

DNA甲基化分析在遗传未明的儿童癫痫诊断中的应用及CHD2表观遗传特征的完善

LaFlamme, Christy W; Rastin, Cassandra; Sengupta, Soham; Pennington, Helen E; Russ-Hall, Sophie J; Schneider, Amy L; Bonkowski, Emily S; Almanza Fuerte, Edith P; Allan, Talia J; Zalusky, Miranda Perez-Galey; Goffena, Joy; Gibson, Sophia B; Nyaga, Denis M; Lieffering, Nico; Hebbar, Malavika; Walker, Emily V; Darnell, Daniel; Olsen, Scott R; Kolekar, Pandurang; Djekidel, Mohamed Nadhir; Rosikiewicz, Wojciech; McConkey, Haley; Kerkhof, Jennifer; Levy, Michael A; Relator, Raissa; Lev, Dorit; Lerman-Sagie, Tally; Park, Kristen L; Alders, Marielle; Cappuccio, Gerarda; Chatron, Nicolas; Demain, Leigh; Genevieve, David; Lesca, Gaetan; Roscioli, Tony; Sanlaville, Damien; Tedder, Matthew L; Gupta, Sachin; Jones, Elizabeth A; Weisz-Hubshman, Monika; Ketkar, Shamika; Dai, Hongzheng; Worley, Kim C; Rosenfeld, Jill A; Chao, Hsiao-Tuan; Neale, Geoffrey; Carvill, Gemma L; Wang, Zhaoming; Berkovic, Samuel F; Sadleir, Lynette G; Miller, Danny E; Scheffer, Ingrid E; Sadikovic, Bekim; Mefford, Heather C

High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation

利用高覆盖率纳米孔测序技术对千人基因组计划的样本进行测序,以构建人类遗传变异的综合目录。

Gustafson, Jonas A; Gibson, Sophia B; Damaraju, Nikhita; Zalusky, Miranda P G; Hoekzema, Kendra; Twesigomwe, David; Yang, Lei; Snead, Anthony A; Richmond, Phillip A; De Coster, Wouter; Olson, Nathan D; Guarracino, Andrea; Li, Qiuhui; Miller, Angela L; Goffena, Joy; Anderson, Zachary B; Storz, Sophie H R; Ward, Sydney A; Sinha, Maisha; Gonzaga-Jauregui, Claudia; Clarke, Wayne E; Basile, Anna O; Corvelo, André; Reeves, Catherine; Helland, Adrienne; Musunuri, Rajeeva Lochan; Revsine, Mahler; Patterson, Karynne E; Paschal, Cate R; Zakarian, Christina; Goodwin, Sara; Jensen, Tanner D; Robb, Esther; McCombie, William Richard; Sedlazeck, Fritz J; Zook, Justin M; Montgomery, Stephen B; Garrison, Erik; Kolmogorov, Mikhail; Schatz, Michael C; McLaughlin, Richard N Jr; Dashnow, Harriet; Zody, Michael C; Loose, Matt; Jain, Miten; Eichler, Evan E; Miller, Danny E

Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation

利用纳米孔测序技术对千人基因组计划样本进行测序,以构建人类遗传变异的综合目录

Gustafson, Jonas A; Gibson, Sophia B; Damaraju, Nikhita; Zalusky, Miranda Pg; Hoekzema, Kendra; Twesigomwe, David; Yang, Lei; Snead, Anthony A; Richmond, Phillip A; De Coster, Wouter; Olson, Nathan D; Guarracino, Andrea; Li, Qiuhui; Miller, Angela L; Goffena, Joy; Anderson, Zachery; Storz, Sophie Hr; Ward, Sydney A; Sinha, Maisha; Gonzaga-Jauregui, Claudia; Clarke, Wayne E; Basile, Anna O; Corvelo, André; Reeves, Catherine; Helland, Adrienne; Musunuri, Rajeeva Lochan; Revsine, Mahler; Patterson, Karynne E; Paschal, Cate R; Zakarian, Christina; Goodwin, Sara; Jensen, Tanner D; Robb, Esther; McCombie, W Richard; Sedlazeck, Fritz J; Zook, Justin M; Montgomery, Stephen B; Garrison, Erik; Kolmogorov, Mikhail; Schatz, Michael C; McLaughlin, Richard N Jr; Dashnow, Harriet; Zody, Michael C; Loose, Matt; Jain, Miten; Eichler, Evan E; Miller, Danny E

Loss of Elp1 perturbs histone H2A.Z and the Notch signaling pathway

Elp1 的缺失会扰乱组蛋白 H2A.Z 和 Notch 信号通路

BreAnna Cameron, Elin Lehrmann, Tien Chih, Joseph Walters, Richard Buksch, Sara Snyder, Joy Goffena, Frances Lefcort, Kevin G Becker, Lynn George

Elongator and codon bias regulate protein levels in mammalian peripheral neurons

延伸因子和密码子偏好性调节哺乳动物外周神经元中的蛋白质水平

Joy Goffena ,Frances Lefcort ,Yongqing Zhang ,Elin Lehrmann ,Marta Chaverra ,Jehremy Felig ,Joseph Walters ,Richard Buksch ,Kevin G Becker ,Lynn George