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Helen Hanson

Showing results (51-60 of 85) with videos related to

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Journal of Medical Genetics|May 11, 2025
UK clinical practice guidelines for the management of patients with constitutional <i>POT1</i> pathogenic variantsOlga Tsoulaki, D Gareth Evans, Khushboo Sinha, et al.
Journal of Medical Genetics|March 9, 2022
UK recommendations for <i>SDHA</i> germline genetic testing and surveillance in clinical practiceHelen Hanson, Miranda Durkie, Fiona Lalloo, et al.
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.
Trials|February 2, 2024
Cancer Precision-Prevention trial of Metformin in adults with Li Fraumeni syndrome (MILI) undergoing yearly MRI surveillance: a randomised controlled trial protocolMiriam Dixon-Zegeye, Rachel Shaw, Linda Collins, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 10, 2025
Management of individuals with heterozygous germline pathogenic variants in RAD51C, RAD51D, and BRIP1: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)Joanne Ngeow, Jianbang Chiang, Esteban Astiazaran-Symonds, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variantsLucy Loong, Cankut Cubuk, Subin Choi, 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.
JAMA Network Open|September 16, 2025
Estimands for Clinical Effectiveness of Risk-Reducing Early Salpingectomy in Women With High Risk of Ovarian CancerJacqueline Sia, Emily F Lane, Caitlin T Fierheller, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 3, 2022
Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK)Lucy Loong, Alice Garrett, Sophie Allen, et al.
Pageof 9

Showing results (51-60 of 85) with videos related to

Sort By:
Pageof 9
Journal of Medical Genetics|May 11, 2025
UK clinical practice guidelines for the management of patients with constitutional <i>POT1</i> pathogenic variantsOlga Tsoulaki, D Gareth Evans, Khushboo Sinha, et al.
Journal of Medical Genetics|March 9, 2022
UK recommendations for <i>SDHA</i> germline genetic testing and surveillance in clinical practiceHelen Hanson, Miranda Durkie, Fiona Lalloo, et al.
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.
Trials|February 2, 2024
Cancer Precision-Prevention trial of Metformin in adults with Li Fraumeni syndrome (MILI) undergoing yearly MRI surveillance: a randomised controlled trial protocolMiriam Dixon-Zegeye, Rachel Shaw, Linda Collins, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 10, 2025
Management of individuals with heterozygous germline pathogenic variants in RAD51C, RAD51D, and BRIP1: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)Joanne Ngeow, Jianbang Chiang, Esteban Astiazaran-Symonds, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variantsLucy Loong, Cankut Cubuk, Subin Choi, 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.
JAMA Network Open|September 16, 2025
Estimands for Clinical Effectiveness of Risk-Reducing Early Salpingectomy in Women With High Risk of Ovarian CancerJacqueline Sia, Emily F Lane, Caitlin T Fierheller, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 3, 2022
Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK)Lucy Loong, Alice Garrett, Sophie Allen, et al.
Pageof 9