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Charlie F Rowlands

Showing results (11-20 of 22) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 3, 2024
Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK)Alice Garrett, Sophie Allen, Miranda Durkie, et al.
American Journal of Human Genetics|January 23, 2022
MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian diseaseCharlie F Rowlands, Algy Taylor, Gillian Rice, et al.
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.
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.
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.
Brain : a Journal of Neurology|December 22, 2022
Genome-wide association analysis identifies a susceptibility locus for sporadic vestibular schwannoma at 9p21Katherine V Sadler, John Bowes, 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.
Cell|September 19, 2024
High-resolution functional mapping of RAD51C by saturation genome editingRebeca Olvera-León, Fang Zhang, Victoria Offord, et al.
Nature Genetics|July 5, 2024
Saturation genome editing of BAP1 functionally classifies somatic and germline variantsAndrew J Waters, Timothy Brendler-Spaeth, Danielle Smith, et al.
Medrxiv : the Preprint Server for Health Sciences|February 12, 2026
Association of Y-chromosomal gr/gr deletions with testicular germ cell tumor: whole-genome analysis of 198,306 individualsSubin Choi, Maria Santa Rocca, Cinzia Vinanzi, et al.
Pageof 3

Showing results (11-20 of 22) with videos related to

Sort By:
Pageof 3
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 3, 2024
Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK)Alice Garrett, Sophie Allen, Miranda Durkie, et al.
American Journal of Human Genetics|January 23, 2022
MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian diseaseCharlie F Rowlands, Algy Taylor, Gillian Rice, et al.
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.
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.
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.
Brain : a Journal of Neurology|December 22, 2022
Genome-wide association analysis identifies a susceptibility locus for sporadic vestibular schwannoma at 9p21Katherine V Sadler, John Bowes, 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.
Cell|September 19, 2024
High-resolution functional mapping of RAD51C by saturation genome editingRebeca Olvera-León, Fang Zhang, Victoria Offord, et al.
Nature Genetics|July 5, 2024
Saturation genome editing of BAP1 functionally classifies somatic and germline variantsAndrew J Waters, Timothy Brendler-Spaeth, Danielle Smith, et al.
Medrxiv : the Preprint Server for Health Sciences|February 12, 2026
Association of Y-chromosomal gr/gr deletions with testicular germ cell tumor: whole-genome analysis of 198,306 individualsSubin Choi, Maria Santa Rocca, Cinzia Vinanzi, et al.
Pageof 3