Publications by authors named "Colin A Semple"

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Spectrum and Impact of Mitochondrial DNA Mutations in Ovarian Cancer.
Samantha Su Ping Low, Laura Greaves, Ryan Silk, Colin A Semple, Charlie Gourley

Int J Mol Sci· November 2025

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Divergent trajectories to structural diversity impact patient survival in high grade serous ovarian cancer.
Ailith Ewing, Alison Meynert, Ryan Silk, Stuart Aitken, Devin P Bendixsen, Colin A Semple

Nat Commun· July 2025

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Somatic BRCA1/2 mutations are associated with a similar survival advantage to their germline counterparts in tubo-ovarian high grade serous carcinoma.
Robert L Hollis, Michael Churchman, Graeme R Grimes, Alison M Meynert, Philippe Gautier, Colin A Semple

Eur J Cancer· March 2025

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CTCF-anchored chromatin loop dynamics during human meiosis.
Vera B Kaiser, Colin A Semple

BMC Biol· March 2025

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Protein structural context of cancer mutations reveals molecular mechanisms and candidate driver genes.
Diego Chillón-Pino, Mihaly Badonyi, Colin A Semple, Joseph A Marsh

Cell Rep· November 2024

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Regionally enriched rare deleterious exonic variants in the UK and Ireland.
Mihail Halachev, Viktoria-Eleni Gountouna, Alison Meynert, Gannie Tzoneva, Alan R Shuldiner, Colin A Semple

Nat Commun· October 2024

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Strand-resolved mutagenicity of DNA damage and repair.
Craig J Anderson, Lana Talmane, Juliet Luft, John Connelly, Michael D Nicholson, Colin A Semple

Nature· June 2024

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IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders.
Stuart Aitken, Helen V Firth, Caroline F Wright, Matthew E Hurles, David R FitzPatrick, Colin A Semple

HGG Adv· January 2023

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Multiomic Characterization of High-Grade Serous Ovarian Carcinoma Enables High-Resolution Patient Stratification.
Robert L Hollis, Alison M Meynert, Caroline O Michie, Tzyvia Rye, Michael Churchman, Colin A Semple

Clin Cancer Res· August 2022

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Gene Co-Expression Network Analysis Identifies Vitamin D-Associated Gene Modules in Adult Normal Rectal Epithelium Following Supplementation.
James P Blackmur, Peter G Vaughan-Shaw, Kevin Donnelly, Bradley T Harris, Victoria Svinti, Colin A Semple

Front Genet· January 2022

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Mutational bias in spermatogonia impacts the anatomy of regulatory sites in the human genome.
Vera B Kaiser, Lana Talmane, Yatendra Kumar, Fiona Semple, Marie MacLennan, Colin A Semple

Genome Res· November 2021

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ISGylation drives basal breast tumour progression by promoting EGFR recycling and Akt signalling.
Alfonso Bolado-Carrancio, Martin Lee, Ailith Ewing, Morwenna Muir, Kenneth G Macleod, Colin A Semple

Oncogene· November 2021

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Structural Variants at the Loci are a Common Source of Homologous Repair Deficiency in High-grade Serous Ovarian Carcinoma.
Ailith Ewing, Alison Meynert, Michael Churchman, Graeme R Grimes, Robert L Hollis, Colin A Semple

Clin Cancer Res· June 2021

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Integrated molecular characterisation of endometrioid ovarian carcinoma identifies opportunities for stratification.
Robert L Hollis, Barbara Stanley, John P Thomson, Michael Churchman, Ian Croy, Colin A Semple

NPJ Precis Oncol· June 2021

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Functional brain defects in a mouse model of a chromosomal t(1;11) translocation that disrupts DISC1 and confers increased risk of psychiatric illness.
Marion Bonneau, Shane T O' Sullivan, Miguel A Gonzalez-Lozano, Paul Baxter, Phillippe Gautier, Colin A Semple

Transl Psychiatry· February 2021

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Molecular stratification of endometrioid ovarian carcinoma predicts clinical outcome.
Robert L Hollis, John P Thomson, Barbara Stanley, Michael Churchman, Alison M Meynert, Colin A Semple

Nat Commun· October 2020

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Pervasive lesion segregation shapes cancer genome evolution.
Sarah J Aitken, Craig J Anderson, Frances Connor, Oriol Pich, Vasavi Sundaram, Colin A Semple

Nature· July 2020

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Zebrafish MITF-Low Melanoma Subtype Models Reveal Transcriptional Subclusters and MITF-Independent Residual Disease.
Jana Travnickova, Sonia Wojciechowska, Ava Khamseh, Philippe Gautier, Daniel V Brown, Colin A Semple

Cancer Res· November 2019

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Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions.
Mihail Halachev, Alison Meynert, Martin S Taylor, Veronique Vitart, Shona M Kerr, Colin A Semple

PLoS Genet· November 2019

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Clinical and molecular characterization of ovarian carcinoma displaying isolated lymph node relapse.
Robert L Hollis, Juliet Carmichael, Alison M Meynert, Michael Churchman, Amelia Hallas-Potts, Colin A Semple

Am J Obstet Gynecol· September 2019

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An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort.
Shona M Kerr, Lucija Klaric, Mihail Halachev, Caroline Hayward, Thibaud S Boutin, Colin A Semple

Sci Rep· July 2019

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Modeling double strand break susceptibility to interrogate structural variation in cancer.
Tracy J Ballinger, Britta A M Bouwman, Reza Mirzazadeh, Silvano Garnerone, Nicola Crosetto, Colin A Semple

Genome Biol· February 2019

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DISC1 regulates N-methyl-D-aspartate receptor dynamics: abnormalities induced by a Disc1 mutation modelling a translocation linked to major mental illness.
Elise L V Malavasi, Kyriakos D Economides, Ellen Grünewald, Paraskevi Makedonopoulou, Philippe Gautier, Colin A Semple

Transl Psychiatry· September 2018

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Conserved temporal ordering of promoter activation implicates common mechanisms governing the immediate early response across cell types and stimuli.
Annalaura Vacca, Masayoshi Itoh, Hideya Kawaji, Erik Arner, Timo Lassmann, Colin A Semple

Open Biol· August 2018

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Chromatin loop anchors are associated with genome instability in cancer and recombination hotspots in the germline.
Vera B Kaiser, Colin A Semple

Genome Biol· July 2018

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