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Rachel Robinson

Showing results (41-50 of 61) with videos related to

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American Journal of Human Genetics|September 9, 2025
Availability of benign missense variant "truthsets" for validation of functional assays: Current status and a systematic approachCharlie F Rowlands, Sophie Allen, Alice Garrett, et al.
Plos Pathogens|August 11, 2012
Cedar virus: a novel Henipavirus isolated from Australian batsGlenn A Marsh, Carol de Jong, Jennifer A Barr, et al.
Plos One|July 14, 2023
Hepmarc: A 96 week randomised controlled feasibility trial of add-on maraviroc in people with HIV and non-alcoholic fatty liver diseaseDaniel Bradshaw, Iga Abramowicz, Stephen Bremner, 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.
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.
Vaccine|February 10, 2020
Symptoms associated with influenza vaccination and experimental human pneumococcal colonisation of the nasopharynxCaz Hales, Simon P Jochems, Rachel Robinson, et al.
Journal of Virology|January 25, 2013
Promotion of Hendra virus replication by microRNA 146aCameron R Stewart, Glenn A Marsh, Kristie A Jenkins, 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.
Journal of Medical Genetics|July 15, 2026
Cancer Variant Interpretation Group UK (CanVIG-UK): updates on an exemplar national subspecialty multidisciplinary networkAlice Garrett, Sophie Allen, 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.
Pageof 7

Showing results (41-50 of 61) with videos related to

Sort By:
Pageof 7
American Journal of Human Genetics|September 9, 2025
Availability of benign missense variant "truthsets" for validation of functional assays: Current status and a systematic approachCharlie F Rowlands, Sophie Allen, Alice Garrett, et al.
Plos Pathogens|August 11, 2012
Cedar virus: a novel Henipavirus isolated from Australian batsGlenn A Marsh, Carol de Jong, Jennifer A Barr, et al.
Plos One|July 14, 2023
Hepmarc: A 96 week randomised controlled feasibility trial of add-on maraviroc in people with HIV and non-alcoholic fatty liver diseaseDaniel Bradshaw, Iga Abramowicz, Stephen Bremner, 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.
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.
Vaccine|February 10, 2020
Symptoms associated with influenza vaccination and experimental human pneumococcal colonisation of the nasopharynxCaz Hales, Simon P Jochems, Rachel Robinson, et al.
Journal of Virology|January 25, 2013
Promotion of Hendra virus replication by microRNA 146aCameron R Stewart, Glenn A Marsh, Kristie A Jenkins, 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.
Journal of Medical Genetics|July 15, 2026
Cancer Variant Interpretation Group UK (CanVIG-UK): updates on an exemplar national subspecialty multidisciplinary networkAlice Garrett, Sophie Allen, 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.
Pageof 7