Evesson Frances J - Institute for Neuroscience and Muscle Research, University of Sydney

基本信息

浏览量：7

职业迁徙

个人简介

暂无内容

研究兴趣

论文共 26 篇作者统计合作学者相似作者

按年份排序按引用量排序主题筛选期刊级别筛选合作者筛选合作机构筛选

Refining Clinically Relevant Parameters for Mis-Splicing Risk in Shortened Introns with Donor-to-branchpoint Space Constraint

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

EUROPEAN JOURNAL OF HUMAN GENETICSno. 8 (2024): 972-979

引用0浏览0WOSNATURE引用

RNA Variant Assessment Using Transactivation and Transdifferentiation

Emmylou C. Nicolas-Martinez, Olivia Robinson,Christian Pflueger,Alison Gardner,Mark A. Corbett,Tarin Ritchie,Thessa Kroes,Clare L. van Eyk,Ingrid E. Scheffer,Michael S. Hildebrand,Jean-Vianney Barnier,Veronique Rousseau,David Genevieve, Virginie Haushalter, Amelie Piton,Anne-Sophie Denomme-Pichon,Ange-Line Bruel,Sophie Nambot, Bertrand Isidor,John Grigg, Tina Gonzalez,Sondhya Ghedia,Rhett G. Marchant,Adam Bournazos,Wui-Kwan Wong,Richard I. Webster,Frances J. Evesson,Kristi J. Jones, Kristi J. PERSYST Investigator Team,Sandra T. Cooper,Ryan Lister,Jozef Gecz,Lachlan A. Jolly

AMERICAN JOURNAL OF HUMAN GENETICSno. 8 (2024)

引用0浏览0WOS引用

Genome and RNA Sequencing Boost Neuromuscular Diagnoses to 62% from 34% with Exome Sequencing Alone

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGYno. 5 (2024): 1250-1266

引用0浏览0WOS引用

Compound Heterozygous Splicing Variants Expand the Genotypic Spectrum of EMC1-related Disorders

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

Clinical geneticsno. 5 (2023): 553-559

引用2浏览0WOS引用

Minimal Expression of Dysferlin Prevents Development of Dysferlinopathy in Dysferlin Exon 40a Knockout Mice

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. Lemckert

Acta neuropathologica communications（2023）

引用1浏览0WOS引用

Connective Tissue Presentation in Two Families Expands the Phenotypic Spectrum of PYROXD1 Disorders

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. Ades,Sandra T. Cooper

Human molecular genetics online/Human molecular genetics（2023）

引用0浏览0WOS引用

Heterozygous CAPN3 Missense Variants Causing Autosomal-Dominant Calpainopathy in Seven Unrelated Families

Neuropathology & applied neurobiology/Neuropathology and applied neurobiologyno. 2 (2020): 283-296

引用18浏览0WOS引用

Pathogenic Deep Intronic MTM1 Variant Activates a Pseudo-Exon Encoding a Nonsense Codon Resulting in Severe X-linked Myotubular Myopathy

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. Cooper

European journal of human genetics（2020）

引用9浏览0WOSNATURE引用

Loss of Calpains-1 and -2 Prevents Repair of Plasma Membrane Scrape Injuries, but Not Small Pores, and Induces a Severe Muscular Dystrophy

Ann-Katrin Piper,Reece A. Sophocleous,Samuel E. Ross,Frances J. Evesson, Omar Saleh,Adam Bournazos,Joe Yasa, Claudia Reed,Natalie Woolger,Ronald Sluyter,Peter Greer,Mate Biro,Frances A. Lemckert,Sandra T. Cooper

American journal of physiology Cell physiology（2020）

引用11浏览0WOS引用

加载更多

作者统计

合作学者

合作机构

D-Core

合作者
学生
导师

暂无相似学者，你可以通过学者研究领域进行搜索筛选

数据免责声明

页面数据均来自互联网公开来源、合作出版商和通过AI技术自动分析结果，我们不对页面数据的有效性、准确性、正确性、可靠性、完整性和及时性做出任何承诺和保证。若有疑问，可以通过电子邮件方式联系我们：report@aminer.cn