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Amanda B Spurdle

Showing results (31-40 of 397) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 9, 2026
Correspondence on "Genome sequencing reveals the impact of pseudoexons in rare genetic disease" by Pitsava et alDaffodil M Canson, George A R Wiggins, Logan C Walker, et al.
The Application of Clinical Genetics|October 21, 2014
Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome)Daniel D Buchanan, Christophe Rosty, Mark Clendenning, et al.
Plos Genetics|February 23, 2010
Use of DNA-damaging agents and RNA pooling to assess expression profiles associated with BRCA1 and BRCA2 mutation status in familial breast cancer patientsLogan C Walker, Bryony A Thompson, Nic Waddell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 11, 2020
Considerations in assessing germline variant pathogenicity using cosegregation analysisSophie Belman, Michael T Parsons, Amanda B Spurdle, et al.
Asian Pacific Journal of Cancer Prevention : APJCP|August 31, 2011
Season of birth and risk of endometrial cancerIngrid J Rowlands, Philip Weinstein, Christina M Nagle, et al.
Journal of Medical Genetics|February 28, 2012
Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classificationMichael T Parsons, Daniel D Buchanan, Bryony Thompson, et al.
Journal of the National Cancer Institute|October 30, 2008
Skewed X chromosome inactivation and breast and ovarian cancer status: evidence for X-linked modifiers of BRCA1Felicity Lose, David L Duffy, Graham F Kay, et al.
Cell Genomics|April 4, 2022
Federated analysis of BRCA1 and BRCA2 variation in a Japanese cohortJames Casaletto, Michael Parsons, Charles Markello, et al.
Human Mutation|October 28, 2008
Prediction and assessment of splicing alterations: implications for clinical testingAmanda B Spurdle, Fergus J Couch, Frans B L Hogervorst, et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology|May 2, 2019
Genome-Wide Association Studies of Endometrial Cancer: Latest Developments and Future DirectionsTracy A O'Mara, Dylan M Glubb, Pik Fang Kho, et al.
Pageof 40

Showing results (31-40 of 397) with videos related to

Sort By:
Pageof 40
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 9, 2026
Correspondence on "Genome sequencing reveals the impact of pseudoexons in rare genetic disease" by Pitsava et alDaffodil M Canson, George A R Wiggins, Logan C Walker, et al.
The Application of Clinical Genetics|October 21, 2014
Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome)Daniel D Buchanan, Christophe Rosty, Mark Clendenning, et al.
Plos Genetics|February 23, 2010
Use of DNA-damaging agents and RNA pooling to assess expression profiles associated with BRCA1 and BRCA2 mutation status in familial breast cancer patientsLogan C Walker, Bryony A Thompson, Nic Waddell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 11, 2020
Considerations in assessing germline variant pathogenicity using cosegregation analysisSophie Belman, Michael T Parsons, Amanda B Spurdle, et al.
Asian Pacific Journal of Cancer Prevention : APJCP|August 31, 2011
Season of birth and risk of endometrial cancerIngrid J Rowlands, Philip Weinstein, Christina M Nagle, et al.
Journal of Medical Genetics|February 28, 2012
Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classificationMichael T Parsons, Daniel D Buchanan, Bryony Thompson, et al.
Journal of the National Cancer Institute|October 30, 2008
Skewed X chromosome inactivation and breast and ovarian cancer status: evidence for X-linked modifiers of BRCA1Felicity Lose, David L Duffy, Graham F Kay, et al.
Cell Genomics|April 4, 2022
Federated analysis of BRCA1 and BRCA2 variation in a Japanese cohortJames Casaletto, Michael Parsons, Charles Markello, et al.
Human Mutation|October 28, 2008
Prediction and assessment of splicing alterations: implications for clinical testingAmanda B Spurdle, Fergus J Couch, Frans B L Hogervorst, et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology|May 2, 2019
Genome-Wide Association Studies of Endometrial Cancer: Latest Developments and Future DirectionsTracy A O'Mara, Dylan M Glubb, Pik Fang Kho, et al.
Pageof 40