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Amanda B Spurdle

Showing results (111-120 of 398) with videos related to

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American Journal of Human Genetics|April 15, 2025
Integration of protein stability and AlphaMissense scores improves bioinformatic impact prediction for p53 missense and in-frame amino acid deletion variantsNitsan Rotenberg, Cristina Fortuno, Matthew J Varga, et al.
Breast Cancer Research and Treatment|November 19, 2009
Pooled analysis indicates that the GSTT1 deletion, GSTM1 deletion, and GSTP1 Ile105Val polymorphisms do not modify breast cancer risk in BRCA1 and BRCA2 mutation carriersAmanda B Spurdle, Paul Fahey, Xiaoqing Chen, et al.
Journal of Medical Genetics|October 26, 2021
Catastrophic chemotherapy toxicity leading to diagnosis of Fanconi anaemia due to <i>FANCD1/BRCA2</i> during adulthood: description of an emerging phenotypeEmilia Ip, Catriona McNeil, Peter Grimison, et al.
Cancers|April 30, 2021
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer DevelopmentOlga Kondrashova, Jannah Shamsani, Tracy A O'Mara, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
The splicing effect of variants at branchpoint elements in cancer genesDaffodil M Canson, Troy Dumenil, Michael T Parsons, et al.
Biological Chemistry|April 17, 2012
The kallikrein 14 gene is down-regulated by androgen receptor signalling and harbours genetic variation that is associated with prostate tumour aggressivenessFelicity Lose, Mitchell G Lawrence, Srilakshmi Srinivasan, et al.
NPJ Breast Cancer|April 4, 2026
Investigating the contribution of rare non-coding variants in BRCA1, BRCA2 and PALB2 to hereditary breast cancerQihong Zhao, Na Li, Evanny Marinovic, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 7, 2023
The splicing effect of variants at branchpoint elements in cancer genesDaffodil M Canson, Troy Dumenil, Michael T Parsons, et al.
Breast Cancer Research : BCR|November 11, 2005
Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancerAaron G Lewis, James Flanagan, Anna Marsh, et al.
Communications Biology|October 22, 2021
Multi-tissue transcriptome-wide association study identifies eight candidate genes and tissue-specific gene expression underlying endometrial cancer susceptibilityPik Fang Kho, Xuemin Wang, Gabriel Cuéllar-Partida, et al.
Pageof 40

Showing results (111-120 of 398) with videos related to

Sort By:
Pageof 40
American Journal of Human Genetics|April 15, 2025
Integration of protein stability and AlphaMissense scores improves bioinformatic impact prediction for p53 missense and in-frame amino acid deletion variantsNitsan Rotenberg, Cristina Fortuno, Matthew J Varga, et al.
Breast Cancer Research and Treatment|November 19, 2009
Pooled analysis indicates that the GSTT1 deletion, GSTM1 deletion, and GSTP1 Ile105Val polymorphisms do not modify breast cancer risk in BRCA1 and BRCA2 mutation carriersAmanda B Spurdle, Paul Fahey, Xiaoqing Chen, et al.
Journal of Medical Genetics|October 26, 2021
Catastrophic chemotherapy toxicity leading to diagnosis of Fanconi anaemia due to <i>FANCD1/BRCA2</i> during adulthood: description of an emerging phenotypeEmilia Ip, Catriona McNeil, Peter Grimison, et al.
Cancers|April 30, 2021
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer DevelopmentOlga Kondrashova, Jannah Shamsani, Tracy A O'Mara, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
The splicing effect of variants at branchpoint elements in cancer genesDaffodil M Canson, Troy Dumenil, Michael T Parsons, et al.
Biological Chemistry|April 17, 2012
The kallikrein 14 gene is down-regulated by androgen receptor signalling and harbours genetic variation that is associated with prostate tumour aggressivenessFelicity Lose, Mitchell G Lawrence, Srilakshmi Srinivasan, et al.
NPJ Breast Cancer|April 4, 2026
Investigating the contribution of rare non-coding variants in BRCA1, BRCA2 and PALB2 to hereditary breast cancerQihong Zhao, Na Li, Evanny Marinovic, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 7, 2023
The splicing effect of variants at branchpoint elements in cancer genesDaffodil M Canson, Troy Dumenil, Michael T Parsons, et al.
Breast Cancer Research : BCR|November 11, 2005
Mutation analysis of FANCD2, BRIP1/BACH1, LMO4 and SFN in familial breast cancerAaron G Lewis, James Flanagan, Anna Marsh, et al.
Communications Biology|October 22, 2021
Multi-tissue transcriptome-wide association study identifies eight candidate genes and tissue-specific gene expression underlying endometrial cancer susceptibilityPik Fang Kho, Xuemin Wang, Gabriel Cuéllar-Partida, et al.
Pageof 40