Charlie F. Rowlands
London, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 31 publications
'Truthsets' for clinical validation of large-scale functional assays: Practice recommendations from Cancer Variant Interpretation Group UK (CanVIG-UK).
Journal: medRxiv : the preprint server for health sciences
Published: July 30, 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 controls.
Journal: medRxiv : the preprint server for health sciences
Published: May 25, 2026
Cancer Variant Interpretation Group UK (CanVIG-UK): updates on an exemplar national subspecialty multidisciplinary network.
Journal: Journal of medical genetics
Published: March 22, 2026
Association of Y-chromosomal gr/gr deletions with testicular germ cell tumor: whole-genome analysis of 198,306 individuals.
Journal: medRxiv : the preprint server for health sciences
Published: February 12, 2026
Combining multiplexed functional data to improve variant classification.
Journal: Genome medicine
Published: November 16, 2025
Spatially-resolved optical monitoring of bioreactor cell growth.
Journal: Biomedical optics express
Published: November 04, 2025
The RNA splicing factor PRPF8 is required for left-right organiser cilia differentiation and determination of cardiac left-right asymmetry via regulation of Arl13b splicing.
Journal: bioRxiv : the preprint server for biology
Published: June 12, 2025
APC I1307K and clinical management: insights from UK Biobank association analysis of colorectal and other cancer risks in Ashkenazi and non-Ashkenazi whites.
Journal: Journal of medical genetics
Published: May 09, 2025
Combining multiplexed functional data to improve variant classification.
Journal: ArXiv
Published: April 08, 2025
Availability of benign missense variant "truthsets" for validation of functional assays: Current status and a systematic approach.
Journal: American journal of human genetics
Published: March 07, 2025
Validating data from multiplex assays of variant effect: A CanVIG-UK national survey of NHS clinical scientists.
Journal: American journal of human genetics
Published: February 04, 2025
Meta-analysis of Germline Whole-exome Sequencing in 1435 Cases of Testicular Germ Cell Tumour to Evaluate Disruptive Mutations Under Dominant, Recessive, and X-linked Inheritance Models.
Journal: European urology open science
Published: January 30, 2025
Last Updated: 09/26/2026