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2025 Journal Article BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotesJohnatty, Sharon E., Tudini, Emma, Parsons, Michael T., Michailidou, Kyriaki, Zanti, Maria, Canson, Daffodil M., Davidson, Aimee L., Berger, Tamar, Rosti, Rasim Ozgur, Kratz, Christian P., Kalb, Reinhard, McReynolds, Lisa J., Giri, Neelam, Richardson, Marcy E., Pesaran, Tina, Surrallés, Jordi, Pujol, Roser, Vundinti, Babu Rao, George, Merin, Maxwell, Kara N., Nathanson, Kate, Domchek, Susan, Fiesco-Roa, Moisés Ó., Frias, Sara, García-de-Teresa, Benilde, Jongmans, Marjolijn, Lalani, Seema, Maiburg, Merel, Prescott, Katrina ... Spurdle, Amanda B. (2025). BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes. American Journal of Human Genetics, 112 (12), 2902-2921. doi: 10.1016/j.ajhg.2025.10.007 |
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2025 Journal Article TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impactCanson, Daffodil M., Llinares-Burguet, Inés, Fortuno, Cristina, Sanoguera-Miralles, Lara, Bueno-Martínez, Elena, de la Hoya, Miguel, Spurdle, Amanda B. and Velasco-Sampedro, Eladio A. (2025). TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact. npj Genomic Medicine, 10 (1) 37, 1-11. doi: 10.1038/s41525-025-00498-0 |
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2025 Journal Article The SeqSplice multiplexed minigene splicing assay for characterization and quantitation of variant-induced BRCA1 and BRCA2 splice isoformsCanson, Daffodil M., Parsons, Michael T., Moir-Meyer, Gemma, Dumenil, Troy, Montalban, Gemma, Lin, Erica, McVeigh, Terri P., Davidson, Aimee L., Bouckaert, Shaun M., Trau, Matt, Korbie, Darren and Spurdle, Amanda B. (2025). The SeqSplice multiplexed minigene splicing assay for characterization and quantitation of variant-induced BRCA1 and BRCA2 splice isoforms. Genome Research, 35 (9), 2104-2115. doi: 10.1101/gr.279557.124 |
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2025 Journal Article Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assaysFortuno, Cristina, Llinares-Burguet, Ines, Canson, Daffodil M., de la Hoya, Miguel, Bueno-Martinez, Elena, Sanoguera-Miralles, Lara, Caldes, Sonsoles, James, Paul A., Velasco-Sampedro, Eladio A. and Spurdle, Amanda B. (2025). Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays. Human Genomics, 19 (1) 2, 1-15. doi: 10.1186/s40246-024-00714-5 |
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2025 Journal Article Integration of protein stability and AlphaMissense scores improves bioinformatic impact prediction for p53 missense and in-frame amino acid deletion variantsRotenberg, Nitsan, Fortuno, Cristina, Varga, Matthew J., Chamberlin, Adam C., Ramadane-Morchadi, Lobna, Feng, Bing-Jian, de la Hoya, Miguel, Richardson, Marcy E. and Spurdle, Amanda B. (2025). Integration of protein stability and AlphaMissense scores improves bioinformatic impact prediction for p53 missense and in-frame amino acid deletion variants. American Journal of Human Genetics, 112 (5), 1003-1014. doi: 10.1016/j.ajhg.2025.01.012 |
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2025 Journal Article ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidenceRamadane-Morchadi, Lobna, Rotenberg, Nitsan, Esteban-Sánchez, Ada, Fortuno, Cristina, Gómez-Sanz, Alicia, Varga, Matthew J., Chamberlin, Adam, Richardson, Marcy E., Michailidou, Kyriaki, Pérez-Segura, Pedro, Spurdle, Amanda B. and de la Hoya, Miguel (2025). ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence. American Journal of Human Genetics, 112 (5), 993-1002. doi: 10.1016/j.ajhg.2024.12.011 |
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2024 Journal Article Germline copy number variants and endometrial cancer riskStylianou, Cassie E., Wiggins, George A. R., Lau, Vanessa L., Dennis, Joe, Shelling, Andrew N., Wilson, Michelle, Sykes, Peter, Amant, Frederic, Annibali, Daniela, De Wispelaere, Wout, Easton, Douglas F., Fasching, Peter A., Glubb, Dylan M., Goode, Ellen L., Lambrechts, Diether, Pharoah, Paul D. P., Scott, Rodney J., Tham, Emma, Tomlinson, Ian, Bolla, Manjeet K., Couch, Fergus J., Czene, Kamila, Dörk, Thilo, Dunning, Alison M., Fletcher, Olivia, García-Closas, Montserrat, Hoppe, Reiner, ABCTB Investigators, Clarke, Christine ... Walker, Logan C. (2024). Germline copy number variants and endometrial cancer risk. Human Genetics, 143 (12), 1-18. doi: 10.1007/s00439-024-02707-9 |
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2024 Journal Article Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centresFortuno, Cristina, Cops, Elisa J., Davidson, Aimee L., Hadler, Johanna, Innella, Giovanni, Mckenzie, Maddison E., Parsons, Michael, Campbell, Ainsley M., Dubowsky, Andrew, Fargas, Verna, Field, Michael J., Mar Fan, Helen G., Nichols, Cassandra B., Poplawski, Nicola K., Warwick, Linda, Williams, Rachel, Beshay, Victoria, Edwards, Caitlin, Johns, Andrea, Mcphillips, Mary, Kumar, Vanessa Siva, Scott, Rodney, Williams, Mark, Scott, Hamish, James, Paul A. and Spurdle, Amanda B. (2024). Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres. European Journal of Human Genetics, 32 (12), 1632-1639. doi: 10.1038/s41431-024-01705-9 |
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2024 Journal Article Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 variant curation expert panelParsons, Michael T., de la Hoya, Miguel, Richardson, Marcy E., Tudini, Emma, Anderson, Michael, Berkofsky-Fessler, Windy, Caputo, Sandrine M., Chan, Raymond C., Cline, Melissa S., Feng, Bing-Jian, Fortuno, Cristina, Gomez-Garcia, Encarna, Hadler, Johanna, Hiraki, Susan, Holdren, Megan, Houdayer, Claude, Hruska, Kathleen, James, Paul, Karam, Rachid, Leong, Huei San, Martins, Alexandra, Mensenkamp, Arjen R., Monteiro, Alvaro N., Nathan, Vaishnavi, O'Connor, Robert, Pedersen, Inge Sokilde, Pesaran, Tina, Radice, Paolo, Schmidt, Gunnar ... Spurdle, Amanda B. (2024). Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 variant curation expert panel. The American Journal of Human Genetics, 111 (9), 2044-2058. doi: 10.1016/j.ajhg.2024.07.013 |
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2024 Journal Article Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing datasetDavidson, Aimee L., Michailidou, Kyriaki, Parsons, Michael T., Fortuno, Cristina, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Naven, Marc, Abubakar, Mustapha, Ahearn, Thomas U., Alonso, M. Rosario, Andrulis, Irene L., Antoniou, Antonis C., Auvinen, Päivi, Behrens, Sabine, Bermisheva, Marina A., Bogdanova, Natalia V., Bojesen, Stig E., Brüning, Thomas, Byers, Helen J., Camp, Nicola J., Campbell, Archie, Castelao, Jose E., Cessna, Melissa H., Chang-Claude, Jenny, Chanock, Stephen J., Chenevix-Trench, Georgia, Sahlberg, Kristine K., Børresen-Dale, Anne-Lise ... kConFab Investigators (2024). Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset. The American Journal of Human Genetics, 111 (9), 2059-2069. doi: 10.1016/j.ajhg.2024.07.004 |
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2024 Journal Article Regional-specific calibration enables application of computational evidence for clinical classification of 5′ cis-regulatory variants in Mendelian diseaseVillani, Rehan M., McKenzie, Maddison E., Davidson, Aimee L. and Spurdle, Amanda B. (2024). Regional-specific calibration enables application of computational evidence for clinical classification of 5′ cis-regulatory variants in Mendelian disease. American Journal of Human Genetics, 111 (7), 1301-1315. doi: 10.1016/j.ajhg.2024.05.002 |
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2024 Journal Article Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelinesFortuno, Cristina, Michailidou, Kyriaki, Parsons, Michael, Dolinsky, Jill S., Pesaran, Tina, Yussuf, Amal, Mester, Jessica L., Hruska, Kathleen S., Hiraki, Susan, O'Connor, Robert, Chan, Raymond C., Kim, Serra, Tavtigian, Sean, Goldgar, David, James, Paul A. and Spurdle, Amanda B. (2024). Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines. Human Molecular Genetics, 33 (8), 724-732. doi: 10.1093/hmg/ddae009 |
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2023 Journal Article The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort studyDavidson, Aimee L., Dressel, Uwe, Norris, Sarah, Canson, Daffodil M., Glubb, Dylan M., Fortuno, Cristina, Hollway, Georgina E., Parsons, Michael T., Vidgen, Miranda E., Holmes, Oliver, Koufariotis, Lambros T., Lakis, Vanessa, Leonard, Conrad, Wood, Scott, Xu, Qinying, McCart Reed, Amy E., Pickett, Hilda A., Al-Shinnag, Mohammad K., Austin, Rachel L., Burke, Jo, Cops, Elisa J., Nichols, Cassandra B., Goodwin, Annabel, Harris, Marion T., Higgins, Megan J., Ip, Emilia L., Kiraly-Borri, Catherine, Lau, Chiyan, Mansour, Julia L. ... Ward, Robyn L. (2023). The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study. Genome Medicine, 15 (1) 74, 1-16. doi: 10.1186/s13073-023-01223-1 |
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2023 Journal Article Design and quality control of large-scale two-sample Mendelian randomization studiesHaycock, Philip C, Borges, Maria Carolina, Burrows, Kimberley, Lemaitre, Rozenn N, Harrison, Sean, Burgess, Stephen, Chang, Xuling, Westra, Jason, Khankari, Nikhil K, Tsilidis, Kostas K, Gaunt, Tom, Hemani, Gibran, Zheng, Jie, Truong, Therese, O'Mara, Tracy A, Spurdle, Amanda B, Law, Matthew H, Slager, Susan L, Birmann, Brenda M, Saberi Hosnijeh, Fatemeh, Mariosa, Daniela, Amos, Christopher I, Hung, Rayjean J, Zheng, Wei, Gunter, Marc J, Davey Smith, George, Relton, Caroline and Martin, Richard M (2023). Design and quality control of large-scale two-sample Mendelian randomization studies. International Journal of Epidemiology, 52 (5), 1498-1521. doi: 10.1093/ije/dyad018 |
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2023 Journal Article Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing SubgroupWalker, Logan C., Hoya, Miguel de la, Wiggins, George A R, Lindy, Amanda, Vincent, Lisa M., Parsons, Michael T., Canson, Daffodil M., Bis-Brewer, Dana, Cass, Ashley, Tchourbanov, Alexander, Zimmermann, Heather, Byrne, Alicia B., Pesaran, Tina, Karam, Rachid, Harrison, Steven M., Spurdle, Amanda B. and ClinGen Sequence Variant Interpretation Working Group (2023). Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup. American Journal of Human Genetics, 110 (7), 1046-1067. doi: 10.1016/j.ajhg.2023.06.002 |
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2023 Journal Article The association between genetically elevated polyunsaturated fatty acids and risk of cancerTintle, Nathan, Rice, Terri, Cheng, Iona, Jenkins, Mark, Gallinger, Steve, Cornish, Alex J., Sud, Amit, Vijayakrishnan, Jayaram, Wrensch, Margaret, Johansson, Mattias, Norman, Aaron D., Klein, Alison, Clay-Gilmour, Alyssa, Franke, Andre, Ardisson Korat, Andres V., Wheeler, Bill, Nilsson, Björn, Smith, Caren, Heng, Chew-Kiat, Song, Ci, Riadi, David, Claus, Elizabeth B., Ellinghaus, Eva, Ostroumova, Evgenia, Hosnijeh,, de Vathaire, Florent, Cugliari, Giovanni, Matullo, Giuseppe, Oi-Lin Ng, Irene ... Martin, Richard M. (2023). The association between genetically elevated polyunsaturated fatty acids and risk of cancer. eBioMedicine, 91 104510. doi: 10.1016/j.ebiom.2023.104510 |
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2023 Journal Article Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genesCanson, Daffodil M., O’Mara, Tracy A., Spurdle, Amanda B. and Glubb, Dylan M. (2023). Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genes. Human Genetics and Genomics Advances, 4 (2) 100185, 1-7. doi: 10.1016/j.xhgg.2023.100185 |
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2023 Journal Article SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletionCanson, Daffodil M., Davidson, Aimee L., de la Hoya, Miguel, Parsons, Michael T., Glubb, Dylan M., Kondrashova, Olga and Spurdle, Amanda B. (2023). SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion. Bioinformatics, 39 (4) btad179, 1-3. doi: 10.1093/bioinformatics/btad179 |
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2023 Journal Article Erratum: The splicing effect of variants at branchpoint elements in cancer genes (Genetics in Medicine (2022) 24(2) (398–409), (S109836002105348X), (10.1016/j.gim.2021.09.020))Canson, Daffodil M., Dumenil, Troy, Parsons, Michael T., O'Mara, Tracy A., Davidson, Aimee L., Okano, Satomi, Signal, Bethany, Mercer, Tim R., Glubb, Dylan M. and Spurdle, Amanda B. (2023). Erratum: The splicing effect of variants at branchpoint elements in cancer genes (Genetics in Medicine (2022) 24(2) (398–409), (S109836002105348X), (10.1016/j.gim.2021.09.020)). Genetics in Medicine, 25 (1), 166-166. doi: 10.1016/j.gim.2022.11.015 |
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2022 Journal Article Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplarsCanson, Daffodil, Glubb, Dylan and Spurdle, Amanda B. (2022). Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars. Human Mutation, 43 (12), 2328-2328. doi: 10.1002/humu.24500 |
