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Amanda B Spurdle

Showing results (101-110 of 398) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Suspected clonal hematopoiesis as a natural functional assay of TP53 germline variant pathogenicityCristina Fortuno, Kelly McGoldrick, Tina Pesaran, et al.
Plos One|September 13, 2012
Genetic association of the KLK4 locus with risk of prostate cancerFelicity Lose, Srilakshmi Srinivasan, Tracy O'Mara, et al.
Journal of Community Genetics|November 2, 2021
Stakeholder attitudes towards establishing a national genomics registry of inherited cancer predisposition: a qualitative studyBettina Meiser, Melissa Monnik, Rachel Austin, et al.
NPJ Genomic Medicine|May 9, 2025
TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impactDaffodil M Canson, Inés Llinares-Burguet, Cristina Fortuno, et al.
Breast Cancer Research and Treatment|May 16, 2008
The BARD1 Cys557Ser polymorphism and breast cancer risk: an Australian case-control and family analysisSharon E Johnatty, Jonathan Beesley, Xiaoqing Chen, et al.
Breast Cancer Research : BCR|August 19, 2007
BCoR-L1 variation and breast cancerFelicity Lose, Jeremy Arnold, David B Young, et al.
Epigenetics|January 5, 2016
DNA methylation profiling to assess pathogenicity of BRCA1 unclassified variants in breast cancerKirsty J Flower, Natalie S Shenker, Mona El-Bahrawy, et al.
Familial Cancer|March 2, 2011
Mutation deep within an intron of MSH2 causes Lynch syndromeMark Clendenning, Daniel D Buchanan, Michael D Walsh, et al.
Arxiv|April 8, 2025
Combining multiplexed functional data to improve variant classificationJeffrey D Calhoun, Moez Dawood, Charlie F Rowlands, et al.
Frontiers in Genetics|August 28, 2020
Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant InterpretationBryony A Thompson, Rhiannon Walters, Michael T Parsons, et al.
Pageof 40

Showing results (101-110 of 398) with videos related to

Sort By:
Pageof 40
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Suspected clonal hematopoiesis as a natural functional assay of TP53 germline variant pathogenicityCristina Fortuno, Kelly McGoldrick, Tina Pesaran, et al.
Plos One|September 13, 2012
Genetic association of the KLK4 locus with risk of prostate cancerFelicity Lose, Srilakshmi Srinivasan, Tracy O'Mara, et al.
Journal of Community Genetics|November 2, 2021
Stakeholder attitudes towards establishing a national genomics registry of inherited cancer predisposition: a qualitative studyBettina Meiser, Melissa Monnik, Rachel Austin, et al.
NPJ Genomic Medicine|May 9, 2025
TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impactDaffodil M Canson, Inés Llinares-Burguet, Cristina Fortuno, et al.
Breast Cancer Research and Treatment|May 16, 2008
The BARD1 Cys557Ser polymorphism and breast cancer risk: an Australian case-control and family analysisSharon E Johnatty, Jonathan Beesley, Xiaoqing Chen, et al.
Breast Cancer Research : BCR|August 19, 2007
BCoR-L1 variation and breast cancerFelicity Lose, Jeremy Arnold, David B Young, et al.
Epigenetics|January 5, 2016
DNA methylation profiling to assess pathogenicity of BRCA1 unclassified variants in breast cancerKirsty J Flower, Natalie S Shenker, Mona El-Bahrawy, et al.
Familial Cancer|March 2, 2011
Mutation deep within an intron of MSH2 causes Lynch syndromeMark Clendenning, Daniel D Buchanan, Michael D Walsh, et al.
Arxiv|April 8, 2025
Combining multiplexed functional data to improve variant classificationJeffrey D Calhoun, Moez Dawood, Charlie F Rowlands, et al.
Frontiers in Genetics|August 28, 2020
Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant InterpretationBryony A Thompson, Rhiannon Walters, Michael T Parsons, et al.
Pageof 40