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

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论文共 26 篇作者统计合作学者相似作者

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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

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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)

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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

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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

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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）

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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）

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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

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