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Author Details

Colin A Semple
Institute of Genetics and Cancer, University of Edinburgh
1997
88
39
PMIDPaper TitleJournal TitlePublished Year
35096006Gene Co-Expression Network Analysis Identifies Vitamin D-Associated Gene Modules in Adult Normal Rectal Epithelium Following Supplementation.Front Genet2022
36561149IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders.HGG Adv2022
35096006Gene Co-Expression Network Analysis Identifies Vitamin D-Associated Gene Modules in Adult Normal Rectal Epithelium Following Supplementation.Front Genet2022
36561149IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders.HGG Adv2022
34079052Integrated molecular characterisation of endometrioid ovarian carcinoma identifies opportunities for stratification.NPJ Precis Oncol2021
34079052Integrated molecular characterisation of endometrioid ovarian carcinoma identifies opportunities for stratification.NPJ Precis Oncol2021
34417209Mutational bias in spermatogonia impacts the anatomy of regulatory sites in the human genome.Genome Res2021
34417209Mutational bias in spermatogonia impacts the anatomy of regulatory sites in the human genome.Genome Res2021
31055034Clinical and molecular characterization of ovarian carcinoma displaying isolated lymph node relapse.Am J Obstet Gynecol2019
31582381Zebrafish MITF-Low Melanoma Subtype Models Reveal Transcriptional Subclusters and MITF-Independent Residual Disease.Cancer Res2019
31765389Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions.PLoS Genet2019
30736820Modeling double strand break susceptibility to interrogate structural variation in cancer.Genome Biol2019
31055034Clinical and molecular characterization of ovarian carcinoma displaying isolated lymph node relapse.Am J Obstet Gynecol2019
31358886An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort.Sci Rep2019
31765389Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions.PLoS Genet2019
31358886An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort.Sci Rep2019
31582381Zebrafish MITF-Low Melanoma Subtype Models Reveal Transcriptional Subclusters and MITF-Independent Residual Disease.Cancer Res2019
30736820Modeling double strand break susceptibility to interrogate structural variation in cancer.Genome Biol2019
29298688Enhanced response rate to pegylated liposomal doxorubicin in high grade serous ovarian carcinomas harbouring BRCA1 and BRCA2 aberrations.BMC Cancer2018
30060743Chromatin loop anchors are associated with genome instability in cancer and recombination hotspots in the germline.Genome Biol2018
30190480DISC1 regulates N-methyl-D-aspartate receptor dynamics: abnormalities induced by a Disc1 mutation modelling a translocation linked to major mental illness.Transl Psychiatry2018
30089658Conserved temporal ordering of promoter activation implicates common mechanisms governing the immediate early response across cell types and stimuli.Open Biol2018
30519450Breaking point: the genesis and impact of structural variation in tumours.F1000Res2018
29298688Enhanced response rate to pegylated liposomal doxorubicin in high grade serous ovarian carcinomas harbouring BRCA1 and BRCA2 aberrations.BMC Cancer2018
30190480DISC1 regulates N-methyl-D-aspartate receptor dynamics: abnormalities induced by a Disc1 mutation modelling a translocation linked to major mental illness.Transl Psychiatry2018
30089658Conserved temporal ordering of promoter activation implicates common mechanisms governing the immediate early response across cell types and stimuli.Open Biol2018
30060743Chromatin loop anchors are associated with genome instability in cancer and recombination hotspots in the germline.Genome Biol2018
30519450Breaking point: the genesis and impact of structural variation in tumours.F1000Res2018
28468917The circadian dynamics of small nucleolar RNA in the mouse liver.J R Soc Interface2017
28468917The circadian dynamics of small nucleolar RNA in the mouse liver.J R Soc Interface2017
28408976When TADs go bad: chromatin structure and nuclear organisation in human disease.F1000Res2017
28408976When TADs go bad: chromatin structure and nuclear organisation in human disease.F1000Res2017
27490693Mutational Biases Drive Elevated Rates of Substitution at Regulatory Sites across Cancer Types.PLoS Genet2016
27490693Mutational Biases Drive Elevated Rates of Substitution at Regulatory Sites across Cancer Types.PLoS Genet2016
26013771Integrative modeling reveals the principles of multi-scale chromatin boundary formation in human nuclear organization.Genome Biol2015
25885578Transcriptional dynamics reveal critical roles for non-coding RNAs in the immediate-early response.PLoS Comput Biol2015
26013771Integrative modeling reveals the principles of multi-scale chromatin boundary formation in human nuclear organization.Genome Biol2015
26173456Homozygous loss-of-function variants in European cosmopolitan and isolate populations.Hum Mol Genet2015
26700852Hierarchical folding and reorganization of chromosomes are linked to transcriptional changes in cellular differentiation.Mol Syst Biol2015
26700852Hierarchical folding and reorganization of chromosomes are linked to transcriptional changes in cellular differentiation.Mol Syst Biol2015
26173456Homozygous loss-of-function variants in European cosmopolitan and isolate populations.Hum Mol Genet2015
25885578Transcriptional dynamics reveal critical roles for non-coding RNAs in the immediate-early response.PLoS Comput Biol2015
24670764A promoter-level mammalian expression atlas.Nature2014
24821702Abundant local interactions in the 4p16.1 region suggest functional mechanisms underlying SLC2A9 associations with human serum uric acid.Hum Mol Genet2014
24670764A promoter-level mammalian expression atlas.Nature2014
24966180Sequence-level mechanisms of human epigenome evolution.Genome Biol Evol2014
24966180Sequence-level mechanisms of human epigenome evolution.Genome Biol Evol2014
24821702Abundant local interactions in the 4p16.1 region suggest functional mechanisms underlying SLC2A9 associations with human serum uric acid.Hum Mol Genet2014
23418889The genomic signature of trait-associated variants.BMC Genomics2013
23940718Properties of local interactions and their potential value in complementing genome-wide association studies.PLoS One2013
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Collaborators

Institute of Genetics and Cancer, University of Edinburgh
Co-authored papers 16
RIKEN Center for Integrative Medical Sciences
Co-authored papers 11
Center for Integrative Medical Sciences
Co-authored papers 11
The Roslin Institute, The University of Edinburgh
Co-authored papers 11
RIKEN Center for Integrative Medical Sciences
Co-authored papers 9
RIKEN Center for Integrative Medical Sciences
Co-authored papers 8
Mater Research Institute-UQ, Translational Research Institute
Co-authored papers 7
Institute of Genetics and Cancer, University of Edinburgh
Co-authored papers 6
University of Copenhagen
Co-authored papers 6
RIKEN Center for Integrative Medical Sciences
Co-authored papers 6
RIKEN Center for Integrative Medical Sciences
Co-authored papers 6
Queensland Children's Hospital
Co-authored papers 6
MRC London Institute of Medical Sciences
Co-authored papers 6
RIKEN Center for Integrative Medical Sciences
Co-authored papers 6
International Institute of Molecular and Cell Biology in Warsaw
Co-authored papers 5
Graduate School of Medicine, Osaka University
Co-authored papers 5
Okinawa Institute of Science and Technology Graduate University
Co-authored papers 5
The University of Melbourne
Co-authored papers 5
University of Copenhagen
Co-authored papers 5
The University of Melbourne
Co-authored papers 5
Co-authored papers 5
Istituto Italiano di Tecnologia
Co-authored papers 4
Telethon Kids Institute, University of Western Australia
Co-authored papers 4
Mater Research Institute - University of Queensland
Co-authored papers 4
RIKEN Center for Integrative Medical Sciences
Co-authored papers 4
Intractable Disease Research Center, Graduate School of Medicine, Juntendo University
Co-authored papers 4
King Abdullah University of Science and Technology (KAUST)
Co-authored papers 4
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Harvard Medical School
Co-authored papers 4