Daffodil M Canson - Population Health Program, QIMR Berghofer Medical Research Institute

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论文共 19 篇作者统计合作学者相似作者

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Exploring the Role of Splicing in TP53 Variant Pathogenicity Through Predictions and Minigene Assays

Cristina Fortuno,Inés Llinares-Burguet,Daffodil M. Canson,Miguel de la Hoya,Elena Bueno-Martínez,Lara Sanoguera-Miralles, Sonsoles Caldes, Paul A. James,Eladio A. Velasco-Sampedro,Amanda B. Spurdle

Human Genomicsno. 1 (2025): 1-15

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TP53 Minigene Analysis of 161 Sequence Changes Provides Evidence for Role of Spatial Constraint and Regulatory Elements on Variant-Induced Splicing Impact

Daffodil M Canson,Ines Llinares-Burguet,Cristina Fortuno,Lara Sanoguera-Miralles,Elena Bueno-Martinez,Miguel de la Hoya,Amanda B Spurdle, Eladio A Velasco-Sampedro

biorxiv（2024）

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Splicing Annotation of Endometrial Cancer GWAS Risk Loci Reveals Potentially Causal Variants and Supports a Role for NF1 and SKAP1 As Susceptibility Genes

Daffodil M. Canson,Tracy A. O'Mara,Amanda B. Spurdle,Dylan M. Glubb

Human Genetics and Genomics Advances（2023）

引用3浏览0WOS引用

Additional File 1 of the Clinical Utility and Costs of Whole-Genome Sequencing to Detect Cancer Susceptibility Variants—a Multi-Site Prospective Cohort Study

Figshare (2023)

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SpliceAI-10k Calculator for the Prediction of Pseudoexonization, Intron Retention, and Exon Deletion

Daffodil M. Canson,Aimee L. Davidson,Miguel de la Hoya,Michael T. Parsons,Dylan M. Glubb,Olga Kondrashova,Amanda B. Spurdle

BIOINFORMATICS（2023）

引用5浏览0WOSEI引用

Using the ACMG/AMP Framework to Capture Evidence Related to Predicted and Observed Impact on Splicing: Recommendations from the ClinGen SVI Splicing Subgroup

Logan C. Walker,Miguel de la Hoya,George A. R. Wiggins,Amanda Lindy,Lisa M. Vincent,Michael T. Parsons,Daffodil M. Canson, Dana Bis-Brewer,Ashley Cass,Alexander Tchourbanov,Heather Zimmermann,Alicia B. Byrne,Tina Pesaran,Rachid Karam,Steven M. Harrison,Amanda B. Spurdle

AMERICAN JOURNAL OF HUMAN GENETICS（2023）

引用3浏览0WOS引用

The Clinical Utility and Costs of Whole-Genome Sequencing to Detect Cancer Susceptibility Variants-a Multi-Site Prospective Cohort Study

Aimee L. Davidson,Uwe Dressel,Sarah Norris,Daffodil M. Canson,Dylan M. Glubb,Cristina Fortuno,Georgina E. Hollway,Michael T. Parsons,Miranda E. Vidgen,Oliver Holmes,Lambros T. Koufariotis,Vanessa Lakis,Conrad Leonard,Scott Wood,Qinying Xu,Amy E. McCart Reed,Hilda A. Pickett,Mohammad K. Al-Shinnag,Rachel L. Austin,Jo Burke,Elisa J. Cops,Cassandra B. Nichols,Annabel Goodwin,Marion T. Harris,Megan J. Higgins,Emilia L. Ip,Catherine Kiraly-Borri,Chiyan Lau,Julia L. Mansour, Michael W. Millward,Melissa J. Monnik,Nicholas S. Pachter,Abiramy Ragunathan,Rachel D. Susman,Sharron L. Townshend,Alison H. Trainer, Simon L. Troth,Katherine M. Tucker,Mathew J. Wallis,Maie Walsh,Rachel A. Williams,Ingrid M. Winship,Felicity Newell,Emma Tudini,John V. Pearson,Nicola K. Poplawski,Helen G. Mar Fan,Paul A. James,Amanda B. Spurdle,Nicola Waddell,Robyn L. Ward

Genome Medicine（2023）

引用3浏览0WOS引用

Variant Effect on Splicing Regulatory Elements, Branchpoint Usage, and Pseudoexonization: Strategies to Enhance Bioinformatic Prediction Using Hereditary Cancer Genes As Exemplars

Daffodil Canson,Dylan Glubb,Amanda B. Spurdle

Human mutation（2022）

引用18浏览0WOS引用

Clinical, Splicing, and Functional Analysis to Classify BRCA2 Exon 3 Variants: Application of a Points-Based ACMG/AMP Approach

Human mutationno. 12 (2022): 1921-1944

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