Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Aimee L Davidson"'
Autor:
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
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-16 (2023)
Abstract Background Many families and individuals do not meet criteria for a known hereditary cancer syndrome but display unusual clusters of cancers. These families may carry pathogenic variants in cancer predisposition genes and be at higher risk f
Externí odkaz:
https://doaj.org/article/e7517b7792c7450392b54b67bde9ca87
Autor:
Jenette Creaney, Ann-Marie Patch, Venkateswar Addala, Sophie A. Sneddon, Katia Nones, Ian M. Dick, Y. C. Gary Lee, Felicity Newell, Ebony J. Rouse, Marjan M. Naeini, Olga Kondrashova, Vanessa Lakis, Apostolos Nakas, David Waller, Annabel Sharkey, Pamela Mukhopadhyay, Stephen H. Kazakoff, Lambros T. Koufariotis, Aimee L. Davidson, Priya Ramarao-Milne, Oliver Holmes, Qinying Xu, Conrad Leonard, Scott Wood, Sean M. Grimmond, Raphael Bueno, Dean A. Fennell, John V. Pearson, Bruce W. Robinson, Nicola Waddell
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-18 (2022)
Abstract Background Malignant pleural mesothelioma (MPM) has a poor overall survival with few treatment options. Whole genome sequencing (WGS) combined with the immune features of MPM offers the prospect of identifying changes that could inform futur
Externí odkaz:
https://doaj.org/article/5bdff0d20d9746a283a822d97c8462e5
Autor:
Vanessa F. Bonazzi, Olga Kondrashova, Deborah Smith, Katia Nones, Asmerom T. Sengal, Robert Ju, Leisl M. Packer, Lambros T. Koufariotis, Stephen H. Kazakoff, Aimee L. Davidson, Priya Ramarao-Milne, Vanessa Lakis, Felicity Newell, Rebecca Rogers, Claire Davies, James Nicklin, Andrea Garrett, Naven Chetty, Lewis Perrin, John V. Pearson, Ann-Marie Patch, Nicola Waddell, Pamela M. Pollock
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-19 (2022)
Abstract Background Endometrial cancer (EC) is a major gynecological cancer with increasing incidence. It comprises four molecular subtypes with differing etiology, prognoses, and responses to chemotherapy. In the future, clinical trials testing new
Externí odkaz:
https://doaj.org/article/4b680dfc6fbc449d935cd19fb75a3b51
Autor:
Daffodil M. Canson, Troy Dumenil, Michael T. Parsons, Tracy A. O’Mara, Aimee L. Davidson, Satomi Okano, Bethany Signal, Tim R. Mercer, Dylan M. Glubb, Amanda B. Spurdle
Publikováno v:
Genetics in Medicine. 24:398-409
Branchpoint elements are required for intron removal, and variants at these elements can result in aberrant splicing. We aimed to assess the value of branchpoint annotations generated from recent large-scale studies to select branchpoint-abrogating v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dd1455aefff82832e94530573ba62a0
https://doi.org/10.1016/j.gim.2021.09.020
https://doi.org/10.1016/j.gim.2021.09.020
SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion
Autor:
Daffodil M. Canson, Aimee L. Davidson, Miguel de la Hoya, Michael T. Parsons, Dylan M. Glubb, Olga Kondrashova, Amanda B. Spurdle
SummarySpliceAI is a widely used splicing prediction tool and its most common application relies on the maximum delta score to assign variant impact on splicing. We developed the SpliceAI-10k calculator (SAI-10k-calc) to extend use of this tool to pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3af4c86254aff02297a8091ab97f15dc
https://doi.org/10.1101/2022.07.30.502132
https://doi.org/10.1101/2022.07.30.502132
Autor:
Aimee L. Davidson, Olga Kondrashova, Conrad Leonard, Scott Wood, Emma Tudini, Georgina E. Hollway, John V. Pearson, Felicity Newell, Amanda B. Spurdle, Nicola Waddell
Publikováno v:
Human mutationREFERENCES. 43(12)
The clinical classification of variants may change with new information, however, there is limited guidance on how often significant changes in variant classification occur. We used ClinVar to examine how variant classification changes over time. We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31c6678a16a2e9b8af32944e58be4385
https://pubmed.ncbi.nlm.nih.gov/36095262
https://pubmed.ncbi.nlm.nih.gov/36095262
Autor:
John V. Pearson, Georgina E Hollway, Nicola Waddell, Felicity Newell, Aimee L Davidson, Lambros T. Koufariotis, Michael T. Parsons, Conrad Leonard, Amanda B. Spurdle
Publikováno v:
Human Mutation. 42:530-536
Aggregate population genomics data from large cohorts are vital for assessing germline variant pathogenicity. However, there are no specifications on how sequencing quality metrics should be considered, and whether exome-derived and genome-derived al
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2477344de3121b5defbb1f254cd036c1
https://doi.org/10.1002/humu.24183
https://doi.org/10.1002/humu.24183
Autor:
Yoland Antill, Paul A. James, Judy Kirk, Uwe Dressel, Nicola K. Poplawski, Lucinda Salmon, Nicholas Pachter, Aimee L Davidson, Sharron Townshend, Michael Gattas, Emma Tudini, Gillian Mitchell, Helen Mar Fan, Rachel Susman, Katherine M. Tucker, Robyn L. Ward, Michael Field, Ashley Crook, Alison H. Trainer, Amanda B. Spurdle, Lesley Andrews, Rebecca Harris
Publikováno v:
Journal of Medical Genetics. 58:853-858
BackgroundThe strength of evidence supporting the validity of gene-disease relationships is variable. Hereditary cancer has the additional complexity of low or moderate penetrance for some confirmed disease-associated alleles.MethodsTo promote nation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f932aebd24622453356be80b23b9444
https://doi.org/10.1136/jmedgenet-2020-107140
https://doi.org/10.1136/jmedgenet-2020-107140
Autor:
Leora Witkowski, Kim E. Nichols, Marjolijn Jongmans, Nienke van Engelen, Ronald R de Krijger, Jennifer Herrera-Mullar, Lieve Tytgat, Armita Bahrami, Helen Mar Fan, Aimee L Davidson, Thomas Robertson, Michael Anderson, Martin Hasselblatt, Sharon E. Plon, William D Foulkes
Publikováno v:
Journal of Medical Genetics. :jmg-2022
Heterozygous germline pathogenic variants (GPVs) inSMARCA4, the gene encoding the ATP-dependent chromatin remodelling protein SMARCA4 (previously known as BRG1), predispose to several rare tumour types, including small cell carcinoma of the ovary, hy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2668369c38b1a55ef4c43e03586b0ef2
https://doi.org/10.1136/jmg-2022-108854
https://doi.org/10.1136/jmg-2022-108854
Autor:
Heather Thorne, A-M Patch, John F. Pearson, F Newell, Georgia Chenevix-Trench, Sriganesh Srihari, Vanessa Lakis, Katia Nones, Conrad Leonard, Sunil R. Lakhani, J Beasley, Peter T. Simpson, Michael T. Parsons, Mark A. Ragan, Aimee L Davidson, Amanda B. Spurdle, Andrea Degasperi, K. K. Khanna, Oliver Holmes, Julie K. Johnson, Kaltin Ferguson, Stephen H. Kazakoff, Serena Nik-Zainal, Scott Wood, Nick Waddell, Pamela Mukhopadhyay, Qinying Xu, X. M. De Luca, A.E. McCart Reed, Lynne Reid
Publikováno v:
Cancer Research. 79:P5-10
Approximately 10-15% of breast cancers are associated with a strong family history of disease. Pathogenic variants in BRCA1, BRCA2 or other moderate to highly penetrant susceptibility genes (e.g. TP53, ATM, CHEK2, PALB2 and PTEN) account for a number
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::317682359e8da6428f3291f702dbfddd
https://doi.org/10.1158/1538-7445.sabcs18-p5-10-01
https://doi.org/10.1158/1538-7445.sabcs18-p5-10-01