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Cells
|
November 30, 2019
Machine Learning Approaches for the Prioritization of Genomic Variants Impacting Pre-mRNA Splicing
Charlie F Rowlands, Diana Baralle, Jamie M Ellingford
Journal of Medical Genetics
|
August 27, 2025
<i>APC</i> I1307K and clinical management: insights from UK Biobank association analysis of colorectal and other cancer risks in Ashkenazi and non-Ashkenazi whites
Sophie Allen, Charlie F Rowlands, Andrew Latchford, et al.
Plos One
|
August 1, 2020
Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells
Katherine A Wood, Charlie F Rowlands, Huw B Thomas, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 5, 2024
Using cancer phenotype sex-specificity to enable unbiased penetrance estimation of SMARCA4 pathogenic variants for small cell carcinoma of the ovary, hypercalcemic type (SCCOHT)
Isaac Wade, Leora Witkowski, Afrida Ahmed, et al.
Arxiv
|
April 8, 2025
Combining multiplexed functional data to improve variant classification
Jeffrey D Calhoun, Moez Dawood, Charlie F Rowlands, et al.
European Urology Open Science
|
March 4, 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
Zeid Kuzbari, Charlie F Rowlands, Isaac Wade, et al.
Human Molecular Genetics
|
July 16, 2019
Disease modeling of core pre-mRNA splicing factor haploinsufficiency
Katherine A Wood, Charlie F Rowlands, Wasay Mohiuddin Shaikh Qureshi, et al.
Human Mutation
|
March 25, 2022
Re-evaluation of missense variant classifications in NF2
Katherine V Sadler, Charlie F Rowlands, Philip T Smith, et al.
Frontiers in Immunology
|
March 23, 2023
Characterization of a mutant <i>samhd1</i> zebrafish model implicates dysregulation of cholesterol biosynthesis in Aicardi-Goutières syndrome
Sarah E Withers, Charlie F Rowlands, Victor S Tapia, et al.
The Lancet. Oncology
|
May 13, 2023
Utility of polygenic risk scores in UK cancer screening: a modelling analysis
Catherine Huntley, Bethany Torr, Amit Sud, et al.
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Search research articles
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Showing results (1-10 of 22) with videos related to
Sort By:
Page
of 3
Cells
|
November 30, 2019
Machine Learning Approaches for the Prioritization of Genomic Variants Impacting Pre-mRNA Splicing
Charlie F Rowlands, Diana Baralle, Jamie M Ellingford
Journal of Medical Genetics
|
August 27, 2025
<i>APC</i> I1307K and clinical management: insights from UK Biobank association analysis of colorectal and other cancer risks in Ashkenazi and non-Ashkenazi whites
Sophie Allen, Charlie F Rowlands, Andrew Latchford, et al.
Plos One
|
August 1, 2020
Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells
Katherine A Wood, Charlie F Rowlands, Huw B Thomas, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 5, 2024
Using cancer phenotype sex-specificity to enable unbiased penetrance estimation of SMARCA4 pathogenic variants for small cell carcinoma of the ovary, hypercalcemic type (SCCOHT)
Isaac Wade, Leora Witkowski, Afrida Ahmed, et al.
Arxiv
|
April 8, 2025
Combining multiplexed functional data to improve variant classification
Jeffrey D Calhoun, Moez Dawood, Charlie F Rowlands, et al.
European Urology Open Science
|
March 4, 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
Zeid Kuzbari, Charlie F Rowlands, Isaac Wade, et al.
Human Molecular Genetics
|
July 16, 2019
Disease modeling of core pre-mRNA splicing factor haploinsufficiency
Katherine A Wood, Charlie F Rowlands, Wasay Mohiuddin Shaikh Qureshi, et al.
Human Mutation
|
March 25, 2022
Re-evaluation of missense variant classifications in NF2
Katherine V Sadler, Charlie F Rowlands, Philip T Smith, et al.
Frontiers in Immunology
|
March 23, 2023
Characterization of a mutant <i>samhd1</i> zebrafish model implicates dysregulation of cholesterol biosynthesis in Aicardi-Goutières syndrome
Sarah E Withers, Charlie F Rowlands, Victor S Tapia, et al.
The Lancet. Oncology
|
May 13, 2023
Utility of polygenic risk scores in UK cancer screening: a modelling analysis
Catherine Huntley, Bethany Torr, Amit Sud, et al.
Page
of 3