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

A severe neurodevelopmental syndrome linked to a South Asian founder variant in the UFMylation adaptor CDK5RAP3

一种严重的神经发育综合征与南亚创始人变异的UFMylation衔接蛋白CDK5RAP3有关

Yuen, Michaela; Zhang, Katharine; Marchant, Rhett G; Ishimura, Ryosuke; Graham, Mark; Aung-Htut, May; Bryen, Samantha; Rius, Rocio; Marshall, Lee; Aryamanesh, Nader; Dziaduch, Gregory; Joshi, Himanshu; Weisburd, Ben; Wilton, Steve D; Wilson, Meredith; Gear, Russell; Hennington, Lucy; Lau, Stephanie; Doyle, Helen; Krivanek, Michael; Leventer, Richard J; White, Susan M; Sandaradura, Sarah A; Komatsu, Masaaki; Evesson, Frances J; Cooper, Sandra T

Pyroxd1 is essential for murine viability with the homozygous N155S recurrent variant linked to myopathy, muscle hypotrophy and osteopenia.

Pyroxd1 对小鼠的生存至关重要,纯合 N155S 复发性变异与肌病、肌肉萎缩和骨质减少有关。

Evesson Frances J, Dziaduch Gregory, Yasa Joe, Best Heather A, Kiriaev Leonit, Pang Ignatius, Jones Vanessa, Kettle Emma, Zhang Katharine, Piper Ann-Katrin, Wark Jesse R, Scott Isaac, Joshi Himanshu, Sutton R Bryan, Tam Patrick P L, Houweling Peter J, Graham Mark E, Yuen Michaela, Lemcket Frances A, Cooper Sandra T

Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum

先天性肌钙蛋白病:疾病谱中最严重阶段的全面特征描述

Coppens, Sandra; Deconinck, Nicolas; Sullivan, Patricia; Smolnikov, Andrei; Clayton, Joshua S; Griffin, Kaitlyn R; Jones, Kristi J; Vilain, Catheline N; Kadhim, Hazim; Bryen, Samantha J; Faiz, Fathimath; Waddell, Leigh B; Evesson, Frances J; Bakshi, Madhura; Pinner, Jason R; Charlton, Amanda; Brammah, Susan; Graf, Nicole S; Krivanek, Michael; Tay, Chee Geap; Foulds, Nicola C; Illingworth, Marjorie A; Thomas, Neil H; Ellard, Sian; Mazanti, Ingrid; Park, Soo-Mi; French, Courtney E; Brewster, Jennifer; Belteki, Gusztav; Hoodbhoy, Shazia; Allinson, Kieren; Krishnakumar, Deepa; Baynam, Gareth; Wood, Bradley M; Ward, Michelle; Vijayakumar, Kayal; Syed, Amber; Murugan, Archana; Majumdar, Anirban; Scurr, Ingrid J; Splitt, Miranda P; Moldovan, Corina; de Silva, Deepthi C; Senanayake, Kumudu; Gardeitchik, Thatjana; Arens, Yvonne; Cooper, Sandra T; Laing, Nigel G; Raymond, F Lucy; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Manzur, Adnan; Corley, Susan M; Ravenscroft, Gianina; Wilkins, Marc R; Cowley, Mark J; Pinese, Mark; Phadke, Rahul; Davis, Mark R; Muntoni, Francesco; Oates, Emily C

Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint

优化具有供体到分支点空间限制的缩短内含子中错误剪接风险的临床相关参数

Zhang, Katharine Y; Joshi, Himanshu; Marchant, Rhett G; Bryen, Samantha J; Dawes, Ruebena; Yuen, Michaela; Cooper, Sandra T; Evesson, Frances J

Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone

基因组和RNA测序将神经肌肉疾病的诊断率从仅使用外显子组测序的34%提高到62%。

Marchant, Rhett G; Bryen, Samantha J; Bahlo, Melanie; Cairns, Anita; Chao, Katherine R; Corbett, Alastair; Davis, Mark R; Ganesh, Vijay S; Ghaoui, Roula; Jones, Kristi J; Kornberg, Andrew J; Lek, Monkol; Liang, Christina; MacArthur, Daniel G; Oates, Emily C; O'Donnell-Luria, Anne; O'Grady, Gina L; Osei-Owusu, Ikeoluwa A; Rafehi, Haloom; Reddel, Stephen W; Roxburgh, Richard H; Ryan, Monique M; Sandaradura, Sarah A; Scott, Liam W; Valkanas, Elise; Weisburd, Ben; Young, Helen; Evesson, Frances J; Waddell, Leigh B; Cooper, Sandra T

Minimal expression of dysferlin prevents development of dysferlinopathy in dysferlin exon 40a knockout mice

dysferlin 的最低限度表达可防止 dysferlin 外显子 40a 基因敲除小鼠发生 dysferlin 病

Joe Yasa, Claudia E Reed, Adam M Bournazos, Frances J Evesson, Ignatius Pang, Mark E Graham, Jesse R Wark, Brunda Nijagal, Kim H Kwan, Thomas Kwiatkowski, Rachel Jung, Noah Weisleder, Sandra T Cooper, Frances A Lemckert1

Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders

两个家族中的结缔组织表现扩大了 PYROXD1 疾病的表型谱

Frances J Evesson, Gregory Dziaduch, Samantha J Bryen, Francesca Moore, Sara Pittman, Beena Devanapalli, Leigh B Waddell, Monique M Ryan, Manoj P Menezes, Conrad C Weihl, Adviye Ayper Tolun, Craig Zaidman, Helen Young, Lesley C Adès, Sandra T Cooper

Compound heterozygous splicing variants expand the genotypic spectrum of EMC1-related disorders

复合杂合剪接变异体扩展了EMC1相关疾病的基因型谱。

Bryen, Samantha J; Zhang, Katharine; Dziaduch, Gregory; Bommireddipalli, Shobhana; Naseri, Take; Reupena, Muagututi'a Sefuiva; Viali, Satupa'itea; Minster, Ryan L; Waddell, Leigh B; Charlton, Amanda; O'Grady, Gina L; Evesson, Frances J; Cooper, Sandra T

Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone

破坏 AG 排斥区的剪接受体变异的流行率、参数和致病机制

Samantha J Bryen, Michaela Yuen, Himanshu Joshi, Ruebena Dawes, Katharine Zhang, Jessica K Lu, Kristi J Jones, Christina Liang, Wui-Kwan Wong, Anthony J Peduto, Leigh B Waddell, Frances J Evesson, Sandra T Cooper

Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy

致病性深内含子 MTM1 变异激活编码无义密码子的伪外显子,导致严重的 X 连锁肌管性肌病

Samantha J Bryen, Emily C Oates, Frances J Evesson, Jessica K Lu, Leigh B Waddell, Himanshu Joshi, Monique M Ryan, Beryl B Cummings, Catriona A McLean, Daniel G MacArthur, Andrew J Kornberg, Sandra T Cooper4