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Michael T Parsons

Showing results (11-20 of 85) with videos related to

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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.
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.
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.
Bioinformatics (Oxford, England)|November 27, 2018
A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicityJannah Shamsani, Stephen H Kazakoff, Irina M Armean, et al.
Plos One|February 4, 2014
Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutationPhillip J Whiley, Michael T Parsons, Jennifer Leary, et al.
Breast Cancer Research and Treatment|August 15, 2018
Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val)Emma Tudini, Setareh Moghadasi, Michael T Parsons, et al.
Genome Research|August 6, 2025
The SeqSplice multiplexed minigene splicing assay for characterization and quantitation of variant-induced <i>BRCA1</i> and <i>BRCA2</i> splice isoformsDaffodil M Canson, Michael T Parsons, Gemma Moir-Meyer, et al.
Nature Communications|October 6, 2018
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controlsYukihide Momozawa, Yusuke Iwasaki, Michael T Parsons, et al.
Human Mutation|February 26, 2016
Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified VariantsMaxime P Vallée, Tonya L Di Sera, David A Nix, et al.
Molecular Carcinogenesis|December 5, 2013
Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicityMichael T Parsons, Phillip J Whiley, Jonathan Beesley, et al.
Pageof 9

Showing results (11-20 of 85) with videos related to

Sort By:
Pageof 9
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.
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.
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.
Bioinformatics (Oxford, England)|November 27, 2018
A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicityJannah Shamsani, Stephen H Kazakoff, Irina M Armean, et al.
Plos One|February 4, 2014
Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutationPhillip J Whiley, Michael T Parsons, Jennifer Leary, et al.
Breast Cancer Research and Treatment|August 15, 2018
Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val)Emma Tudini, Setareh Moghadasi, Michael T Parsons, et al.
Genome Research|August 6, 2025
The SeqSplice multiplexed minigene splicing assay for characterization and quantitation of variant-induced <i>BRCA1</i> and <i>BRCA2</i> splice isoformsDaffodil M Canson, Michael T Parsons, Gemma Moir-Meyer, et al.
Nature Communications|October 6, 2018
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controlsYukihide Momozawa, Yusuke Iwasaki, Michael T Parsons, et al.
Human Mutation|February 26, 2016
Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified VariantsMaxime P Vallée, Tonya L Di Sera, David A Nix, et al.
Molecular Carcinogenesis|December 5, 2013
Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicityMichael T Parsons, Phillip J Whiley, Jonathan Beesley, et al.
Pageof 9