Hasil Pencarian - Amanda B Spurdle

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  1. 1
    The Association of CYP19A1 Variation with Circulating Estradiol and Aromatase Inhibitor Outcome: Can CYP19A1 Variants Be Used to Predict Treatment Efficacy?

    The Association of CYP19A1 Variation with Circulating Estradiol and Aromatase Inhibitor Outcome: Can CYP19A1 Variants Be Used to Predict Treatment Efficacy? oleh Dylan M. Glubb, Tracy A. O'Mara, Jannah Shamsani, Amanda B. Spurdle

    Diterbitkan 2017-04-01
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  2. 2
    Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genes

    Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genes oleh Daffodil M. Canson, Tracy A. O’Mara, Amanda B. Spurdle, Dylan M. Glubb

    Diterbitkan 2023-04-01
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  3. 3
    Federated analysis of BRCA1 and BRCA2 variation in a Japanese cohort

    Federated analysis of BRCA1 and BRCA2 variation in a Japanese cohort oleh James Casaletto, Michael Parsons, Charles Markello, Yusuke Iwasaki, Yukihide Momozawa, Amanda B. Spurdle, Melissa Cline

    Diterbitkan 2022-03-01
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  4. 4
    Generating high-quality data abstractions from scanned clinical records: text-mining-assisted extraction of endometrial carcinoma pathology features as proof of principle

    Generating high-quality data abstractions from scanned clinical records: text-mining-assisted extraction of endometrial carcinoma pathology features as proof of principle oleh Amanda B Spurdle, Anthony Nguyen, John O'Dwyer, Thanh Vu, Penelope M Webb, Sharon E Johnatty

    Diterbitkan 2020-06-01
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  5. 5
    Caution: Plasmid DNA topology affects luciferase assay reproducibility and outcomes

    Caution: Plasmid DNA topology affects luciferase assay reproducibility and outcomes oleh Emma Tudini, Lez J Burke, Phillip J Whiley, Jan Sevcik, Amanda B Spurdle, Melissa A Brown

    Diterbitkan 2019-09-01
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  6. 6
    Assessing the Role of Selenium in Endometrial Cancer Risk: A Mendelian Randomization Study

    Assessing the Role of Selenium in Endometrial Cancer Risk: A Mendelian Randomization Study oleh Pik Fang Kho, Dylan M. Glubb, Deborah J. Thompson, Amanda B. Spurdle, Tracy A. O'Mara

    Diterbitkan 2019-03-01
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  7. 7
    Use of DNA-damaging agents and RNA pooling to assess expression profiles associated with BRCA1 and BRCA2 mutation status in familial breast cancer patients.

    Use of DNA-damaging agents and RNA pooling to assess expression profiles associated with BRCA1 and BRCA2 mutation status in familial breast cancer patients. oleh Logan C Walker, Bryony A Thompson, Nic Waddell, kConFab Investigators, Sean M Grimmond, Amanda B Spurdle

    Diterbitkan 2010-02-01
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  8. 8
    Author Correction: ROR1 is upregulated in endometrial cancer and represents a novel therapeutic target

    Author Correction: ROR1 is upregulated in endometrial cancer and represents a novel therapeutic target oleh Dongli Liu, Kate Gunther, Luis A. Enriquez, Benjamin Daniels, Tracy A. O’Mara, Katrina Tang, Amanda B. Spurdle, Caroline E. Ford

    Diterbitkan 2022-06-01
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  9. 9
    Quantifying <i>BRCA1</i> and <i>BRCA2</i> mRNA Isoform Expression Levels in Single Cells

    Quantifying <i>BRCA1</i> and <i>BRCA2</i> mRNA Isoform Expression Levels in Single Cells oleh Vanessa L. Lattimore, John F. Pearson, Arthur E. Morley-Bunker, kConFab Investigators, Amanda B. Spurdle, Bridget A. Robinson, Margaret J. Currie, Logan C. Walker

    Diterbitkan 2019-02-01
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  10. 10
    Nanopore sequencing of full-length BRCA1 mRNA transcripts reveals co-occurrence of known exon skipping events

    Nanopore sequencing of full-length BRCA1 mRNA transcripts reveals co-occurrence of known exon skipping events oleh Lucy C. de Jong, Simone Cree, Vanessa Lattimore, George A. R. Wiggins, Amanda B. Spurdle, kConFab Investigators, Allison Miller, Martin A. Kennedy, Logan C. Walker

    Diterbitkan 2017-11-01
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  11. 11
    Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.

    Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation. oleh Phillip J Whiley, Michael T Parsons, Jennifer Leary, Kathy Tucker, Linda Warwick, Belinda Dopita, Heather Thorne, Sunil R Lakhani, David E Goldgar, Melissa A Brown, Amanda B Spurdle

    Diterbitkan 2014-01-01
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  12. 12
    Genetic characterization of pancreatic cancer patients and prediction of carrier status of germline pathogenic variants in cancer-predisposing genes

    Genetic characterization of pancreatic cancer patients and prediction of carrier status of germline pathogenic variants in cancer-predisposing genes oleh Keijiro Mizukami, Yusuke Iwasaki, Eiryo Kawakami, Makoto Hirata, Yoichiro Kamatani, Koichi Matsuda, Mikiko Endo, Kokichi Sugano, Teruhiko Yoshida, Yoshinori Murakami, Hidewaki Nakagawa, Amanda B. Spurdle, Yukihide Momozawa

    Diterbitkan 2020-10-01
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  13. 13
    Investigation of Experimental Factors That Underlie BRCA1/2 mRNA Isoform Expression Variation: Recommendations for Utilizing Targeted RNA Sequencing to Evaluate Potential Spliceogenic Variants

    Investigation of Experimental Factors That Underlie BRCA1/2 mRNA Isoform Expression Variation: Recommendations for Utilizing Targeted RNA Sequencing to Evaluate Potential Spliceoge... oleh Vanessa L. Lattimore, John F. Pearson, John F. Pearson, Margaret J. Currie, Amanda B. Spurdle, kConFab Investigators, Bridget A. Robinson, Bridget A. Robinson, Logan C. Walker

    Diterbitkan 2018-05-01
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  14. 14
    Multi-tissue transcriptome-wide association study identifies eight candidate genes and tissue-specific gene expression underlying endometrial cancer susceptibility

    Multi-tissue transcriptome-wide association study identifies eight candidate genes and tissue-specific gene expression underlying endometrial cancer susceptibility oleh Pik Fang Kho, Xuemin Wang, Gabriel Cuéllar-Partida, Thilo Dörk, Ellen L. Goode, Diether Lambrechts, Rodney J. Scott, Amanda B. Spurdle, Tracy A. O’Mara, Dylan M. Glubb

    Diterbitkan 2021-10-01
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  15. 15
    Genetic association of the KLK4 locus with risk of prostate cancer.

    Genetic association of the KLK4 locus with risk of prostate cancer. oleh Felicity Lose, Srilakshmi Srinivasan, Tracy O'Mara, Louise Marquart, Suzanne Chambers, Robert A Gardiner, Joanne F Aitken, Australian Prostate Cancer BioResource, Amanda B Spurdle, Jyotsna Batra, Judith A Clements

    Diterbitkan 2012-01-01
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  16. 16
    BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression.

    BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression. oleh Nic Waddell, Anette Ten Haaf, Anna Marsh, Julie Johnson, Logan C Walker, kConfab Investigators, Milena Gongora, Melissa Brown, Piyush Grover, Mark Girolami, Sean Grimmond, Georgia Chenevix-Trench, Amanda B Spurdle

    Diterbitkan 2008-05-01
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  17. 17
    Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls

    Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls oleh Yukihide Momozawa, Yusuke Iwasaki, Michael T. Parsons, Yoichiro Kamatani, Atsushi Takahashi, Chieko Tamura, Toyomasa Katagiri, Teruhiko Yoshida, Seigo Nakamura, Kokichi Sugano, Yoshio Miki, Makoto Hirata, Koichi Matsuda, Amanda B. Spurdle, Michiaki Kubo

    Diterbitkan 2018-10-01
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  18. 18
    Multi-trait genome-wide association study identifies a novel endometrial cancer risk locus that associates with testosterone levels

    Multi-trait genome-wide association study identifies a novel endometrial cancer risk locus that associates with testosterone levels oleh Xuemin Wang, Pik Fang Kho, Dhanya Ramachandran, Cemsel Bafligil, Frederic Amant, Ellen L. Goode, Rodney J. Scott, Ian Tomlinson, D. Gareth Evans, Emma J. Crosbie, Thilo Dörk, Amanda B. Spurdle, Dylan M. Glubb, Tracy A. O'Mara

    Diterbitkan 2023-05-01
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  19. 19
    Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification

    Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification oleh Logan C. Walker, Vanessa Lilian Lattimore, Anders Kvist, Petra Kleiblova, Petra Kleiblova, Petra Zemankova, Lucy de Jong, George A. R. Wiggins, Christopher Hakkaart, Simone L. Cree, Raquel Behar, Claude Houdayer, kConFab Investigators, kConFab Investigators, Michael T. Parsons, Martin A. Kennedy, Amanda B. Spurdle, Miguel de la Hoya

    Diterbitkan 2019-11-01
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  20. 20
    Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant

    Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant oleh Ines Block, Àngels Mateu-Regué, Thi Tuyet Nhu Do, Ieva Miceikaite, Daniel Sdogati, Martin J. Larsen, Qin Hao, Henriette Roed Nielsen, Susanne E. Boonen, Anne-Bine Skytte, Uffe Birk Jensen, Louise K. Høffding, Arcangela De Nicolo, Alessandra Viel, Emma Tudini, Michael T. Parsons, Thomas V. O. Hansen, Maria Rossing, Torben A. Kruse, Amanda B. Spurdle, Mads Thomassen

    Diterbitkan 2024-01-01
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