المؤلفون: 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

المصدر: Genome Medicine, Vol 15, Iss 1, Pp 1-16 (2023)

مصطلحات موضوعية: Familial cancer, Genetics, Variants, Whole-genome sequencing, Diagnostic testing, Health economics, Medicine, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/e7517b7792c7450392b54b67bde9ca87

المؤلفون: 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

المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-18 (2022)

مصطلحات موضوعية: Malignant pleural mesothelioma, Whole genome sequencing, RNA sequencing, Mutational signatures, Tumour micro-environment, Immunotherapy, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/5bdff0d20d9746a283a822d97c8462e5

المؤلفون: 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

المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-19 (2022)

مصطلحات موضوعية: Endometrial cancer, Patient-derived xenografts, Genomic characterization, Mutational signatures, Genomic scarring, Tumor heterogeneity, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/4b680dfc6fbc449d935cd19fb75a3b51

المؤلفون: 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

المصدر: Genetics in Medicine. 24:398-409

مصطلحات موضوعية: Neoplasms, RNA Splicing, Humans, Introns, Genetics (clinical), Genes, Neoplasm

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dd1455aefff82832e94530573ba62a0
https://doi.org/10.1016/j.gim.2021.09.020

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

مصطلحات موضوعية: Statistics and Probability, Computational Mathematics, Computational Theory and Mathematics, Molecular Biology, Biochemistry, Computer Science Applications

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3af4c86254aff02297a8091ab97f15dc
https://doi.org/10.1101/2022.07.30.502132

المؤلفون: Aimee L. Davidson, Olga Kondrashova, Conrad Leonard, Scott Wood, Emma Tudini, Georgina E. Hollway, John V. Pearson, Felicity Newell, Amanda B. Spurdle, Nicola Waddell

المصدر: Human mutationREFERENCES. 43(12)

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31c6678a16a2e9b8af32944e58be4385
https://pubmed.ncbi.nlm.nih.gov/36095262

المؤلفون: John V. Pearson, Georgina E Hollway, Nicola Waddell, Felicity Newell, Aimee L Davidson, Lambros T. Koufariotis, Michael T. Parsons, Conrad Leonard, Amanda B. Spurdle

المصدر: Human Mutation. 42:530-536

مصطلحات موضوعية: Population, Computational biology, Biology, Germline, Cancer syndrome, Population genomics, 03 medical and health sciences, Gene Frequency, Neoplasms, Genetics, medicine, Humans, Genetic Testing, education, Gene, Allele frequency, Genetics (clinical), 030304 developmental biology, Whole genome sequencing, 0303 health sciences, education.field_of_study, Genome, Human, 030305 genetics & heredity, Genetic Variation, Genomics, medicine.disease, Germ Cells, Precision and recall

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2477344de3121b5defbb1f254cd036c1
https://doi.org/10.1002/humu.24183

المؤلفون: 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

المصدر: Journal of Medical Genetics. :jmg-2022

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2668369c38b1a55ef4c43e03586b0ef2
https://doi.org/10.1136/jmg-2022-108854

المؤلفون: 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

المصدر: Journal of Medical Genetics. 58:853-858

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Consensus, Genetic counseling, Genetic Counseling, Context (language use), Medical Oncology, 03 medical and health sciences, Strength of evidence, 0302 clinical medicine, Neoplasms, Genetics, Humans, Medicine, Genetic Predisposition to Disease, Genetic Testing, Gene, Genetic Association Studies, Germ-Line Mutation, Genetics (clinical), Genetic testing, Family Health, Genetics & Heredity, medicine.diagnostic_test, business.industry, Tumor Suppressor Proteins, Australia, Cancer, Molecular Sequence Annotation, medicine.disease, Penetrance, Pedigree, 030104 developmental biology, 030220 oncology & carcinogenesis, Family medicine, 06 Biological Sciences, 11 Medical and Health Sciences, Female, Hereditary Cancer, business

وصف الملف: Print-Electronic; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f932aebd24622453356be80b23b9444
https://doi.org/10.1136/jmedgenet-2020-107140

المؤلفون: A-M Patch, Andrea Garrett, Lambros T. Koufariotis, Asmerom T. Sengal, Leisl M. Packer, Priya Ramarao-Milne, Naven Chetty, Katia Nones, Felicity Newell, Deborah Smith, Vanessa Lakis, Aimee L Davidson, Robert J. Ju, Olga Kondrashova, James L. Nicklin, Rebecca Rogers, Vanessa F. Bonazzi, Pamela M. Pollock, Claire M. Davies, Lewis Perrin, John V. Pearson, Stephen H. Kazakoff, Nicola Waddell

مصطلحات موضوعية: Endometrial cancer, Cancer, Genomic signature, Biology, medicine.disease, Primary tumor, chemistry.chemical_compound, chemistry, In vivo, PARP inhibitor, Cancer research, medicine, Talazoparib, Exome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b57cb172bea0339f6a78562c3d0f253d
https://doi.org/10.1101/2021.03.30.436914