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Bryony A Thompson

Showing results (11-20 of 45) 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.
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.
The Journal of Molecular Diagnostics : JMD|December 20, 2025
Piloting an Interpretive External Quality Assurance Model for Genomic Testing for Childhood Syndromes and Intellectual DisabilityBen Lundie, Sze Yee Chai, Alicia B Byrne, et al.
Molecular Genetics & Genomic Medicine|October 29, 2020
FANCM c5791C>T stopgain mutation (rs144567652) is a familial colorectal cancer risk factorLisa A Cannon-Albright, Craig C Teerlink, Jeffrey Stevens, et al.
NPJ Genomic Medicine|June 17, 2021
Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descentPaul Lacaze, Robert Sebra, Moeen Riaz, et al.
Human Mutation|March 12, 2011
Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundaryPhillip J Whiley, Lucia Guidugli, Logan C Walker, et al.
Breast Cancer Research and Treatment|August 26, 2017
Panel sequencing of 264 candidate susceptibility genes and segregation analysis in a cohort of non-BRCA1, non-BRCA2 breast cancer familiesJun Li, Hongyan Li, Igor Makunin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 13, 2022
Real world outcomes and implementation pathways of exome sequencing in an adult genetic departmentMaie Walsh, Kirsty West, Jessica A Taylor, et al.
International Journal of Molecular Sciences|June 2, 2021
Genetic Dominant Variants in <i>STUB1,</i> Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16Yasaman Pakdaman, Siren Berland, Helene J Bustad, 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 5

Showing results (11-20 of 45) with videos related to

Sort By:
Pageof 5
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.
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.
The Journal of Molecular Diagnostics : JMD|December 20, 2025
Piloting an Interpretive External Quality Assurance Model for Genomic Testing for Childhood Syndromes and Intellectual DisabilityBen Lundie, Sze Yee Chai, Alicia B Byrne, et al.
Molecular Genetics & Genomic Medicine|October 29, 2020
FANCM c5791C>T stopgain mutation (rs144567652) is a familial colorectal cancer risk factorLisa A Cannon-Albright, Craig C Teerlink, Jeffrey Stevens, et al.
NPJ Genomic Medicine|June 17, 2021
Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descentPaul Lacaze, Robert Sebra, Moeen Riaz, et al.
Human Mutation|March 12, 2011
Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundaryPhillip J Whiley, Lucia Guidugli, Logan C Walker, et al.
Breast Cancer Research and Treatment|August 26, 2017
Panel sequencing of 264 candidate susceptibility genes and segregation analysis in a cohort of non-BRCA1, non-BRCA2 breast cancer familiesJun Li, Hongyan Li, Igor Makunin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 13, 2022
Real world outcomes and implementation pathways of exome sequencing in an adult genetic departmentMaie Walsh, Kirsty West, Jessica A Taylor, et al.
International Journal of Molecular Sciences|June 2, 2021
Genetic Dominant Variants in <i>STUB1,</i> Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16Yasaman Pakdaman, Siren Berland, Helene J Bustad, 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 5