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Trudi McDevitt

Showing results (11-20 of 18) with videos related to

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Journal of Medical Genetics|September 3, 2024
The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classificationCharlie F Rowlands, Alice Garrett, Sophie Allen, et al.
Human Mutation|January 7, 2010
Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal lociSylvia Quemener, Jian-Min Chen, Nadia Chuzhanova, et al.
American Journal of Human Genetics|June 6, 2025
Validating data from multiplex assays of variant effect: A CanVIG-UK national survey of NHS clinical scientistsSophie Allen, Alice Garrett, Charlie F Rowlands, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 8, 2025
Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancerSophie Allen, Charlie F Rowlands, Samantha Butler, et al.
Familial Cancer|July 10, 2012
Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndromeMichael P Farrell, David J Hughes, Ian R Berry, et al.
European Journal of Human Genetics : EJHG|February 24, 2006
Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanismsClaude Férec, Teresa Casals, Nadia Chuzhanova, et al.
Medrxiv : the Preprint Server for Health Sciences|May 25, 2026
Integrating enriched case data from national laboratory testing with population-based case-control analyses: a novel statistical likelihood-ratio methodology for PS4 applied to 325,345 breast cancer cases and 671,006 controlsSophie Allen, Charlie F Rowlands, Alice Garrett, et al.
Journal of Medical Genetics|December 28, 2023
Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory surveySophie Allen, Lucy Loong, Alice Garrett, et al.
Pageof 2

Showing results (11-20 of 18) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 18 results.
Journal of Medical Genetics|September 3, 2024
The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classificationCharlie F Rowlands, Alice Garrett, Sophie Allen, et al.
Human Mutation|January 7, 2010
Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal lociSylvia Quemener, Jian-Min Chen, Nadia Chuzhanova, et al.
American Journal of Human Genetics|June 6, 2025
Validating data from multiplex assays of variant effect: A CanVIG-UK national survey of NHS clinical scientistsSophie Allen, Alice Garrett, Charlie F Rowlands, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 8, 2025
Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancerSophie Allen, Charlie F Rowlands, Samantha Butler, et al.
Familial Cancer|July 10, 2012
Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndromeMichael P Farrell, David J Hughes, Ian R Berry, et al.
European Journal of Human Genetics : EJHG|February 24, 2006
Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanismsClaude Férec, Teresa Casals, Nadia Chuzhanova, et al.
Medrxiv : the Preprint Server for Health Sciences|May 25, 2026
Integrating enriched case data from national laboratory testing with population-based case-control analyses: a novel statistical likelihood-ratio methodology for PS4 applied to 325,345 breast cancer cases and 671,006 controlsSophie Allen, Charlie F Rowlands, Alice Garrett, et al.
Journal of Medical Genetics|December 28, 2023
Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory surveySophie Allen, Lucy Loong, Alice Garrett, et al.
Pageof 2