Publications by authors named "Simon J McGowan"

41Publications

CSynth: An Interactive Modelling and Visualisation Tool for 3D Chromatin Structure.

Bioinformatics 2020 Aug 31. Epub 2020 Aug 31.

Analysis, visualization and Informatics, MRC WIMM Centre for Computational Biology, MRC Weatherall Institute of Molecular Medicine, Oxford, UK.

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http://dx.doi.org/10.1093/bioinformatics/btaa757DOI Listing
August 2020

Germinal Center B Cells Replace Their Antigen Receptors in Dark Zones and Fail Light Zone Entry when Immunoglobulin Gene Mutations are Damaging.

Immunity 2018 09;49(3):477-489.e7

MRC Human Immunology Unit, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10747613183038
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http://dx.doi.org/10.1016/j.immuni.2018.08.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6162340PMC
September 2018

Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome.

Hum Mutat 2018 10 7;39(10):1360-1365. Epub 2018 Aug 7.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1002/humu.23598DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6175480PMC
October 2018

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Am J Hum Genet 2018 06 31;102(6):1195-1203. Epub 2018 May 31.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183016
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http://dx.doi.org/10.1016/j.ajhg.2018.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992133PMC
June 2018

Sasquatch: predicting the impact of regulatory SNPs on transcription factor binding from cell- and tissue-specific DNase footprints.

Genome Res 2017 10 13;27(10):1730-1742. Epub 2017 Sep 13.

MRC Molecular Haematology Unit, MRC Weatherall Institute of Molecular Medicine, Oxford OX3 9DS, United Kingdom.

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http://dx.doi.org/10.1101/gr.220202.117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5630036PMC
October 2017

Ubiquitin-mediated fluctuations in MHC class II facilitate efficient germinal center B cell responses.

J Exp Med 2016 05 9;213(6):993-1009. Epub 2016 May 9.

Howard Hughes Medical Institute, University of California, San Francisco, San Francisco, CA 94143 Department of Microbiology and Immunology, University of California, San Francisco, San Francisco, CA 94143

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http://dx.doi.org/10.1084/jem.20151682DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4886361PMC
May 2016

Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes.

Proc Natl Acad Sci U S A 2016 Mar 8;113(9):2454-9. Epub 2016 Feb 8.

Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, United Kingdom;

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http://dx.doi.org/10.1073/pnas.1521325113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4780627PMC
March 2016

Multiplexed analysis of chromosome conformation at vastly improved sensitivity.

Nat Methods 2016 Jan 23;13(1):74-80. Epub 2015 Nov 23.

Medical Research Council, Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford University, Oxford, UK.

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http://dx.doi.org/10.1038/nmeth.3664DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4724891PMC
January 2016

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.

Am J Hum Genet 2015 Sep;97(3):378-88

Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK; Craniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.07.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4564895PMC
September 2015

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.

Authors:
Jenny C Taylor Hilary C Martin Stefano Lise John Broxholme Jean-Baptiste Cazier Andy Rimmer Alexander Kanapin Gerton Lunter Simon Fiddy Chris Allan A Radu Aricescu Moustafa Attar Christian Babbs Jennifer Becq David Beeson Celeste Bento Patricia Bignell Edward Blair Veronica J Buckle Katherine Bull Ondrej Cais Holger Cario Helen Chapel Richard R Copley Richard Cornall Jude Craft Karin Dahan Emma E Davenport Calliope Dendrou Olivier Devuyst Aimée L Fenwick Jonathan Flint Lars Fugger Rodney D Gilbert Anne Goriely Angie Green Ingo H Greger Russell Grocock Anja V Gruszczyk Robert Hastings Edouard Hatton Doug Higgs Adrian Hill Chris Holmes Malcolm Howard Linda Hughes Peter Humburg David Johnson Fredrik Karpe Zoya Kingsbury Usha Kini Julian C Knight Jonathan Krohn Sarah Lamble Craig Langman Lorne Lonie Joshua Luck Davis McCarthy Simon J McGowan Mary Frances McMullin Kerry A Miller Lisa Murray Andrea H Németh M Andrew Nesbit David Nutt Elizabeth Ormondroyd Annette Bang Oturai Alistair Pagnamenta Smita Y Patel Melanie Percy Nayia Petousi Paolo Piazza Sian E Piret Guadalupe Polanco-Echeverry Niko Popitsch Fiona Powrie Chris Pugh Lynn Quek Peter A Robbins Kathryn Robson Alexandra Russo Natasha Sahgal Pauline A van Schouwenburg Anna Schuh Earl Silverman Alison Simmons Per Soelberg Sørensen Elizabeth Sweeney John Taylor Rajesh V Thakker Ian Tomlinson Amy Trebes Stephen Rf Twigg Holm H Uhlig Paresh Vyas Tim Vyse Steven A Wall Hugh Watkins Michael P Whyte Lorna Witty Ben Wright Chris Yau David Buck Sean Humphray Peter J Ratcliffe John I Bell Andrew Om Wilkie David Bentley Peter Donnelly Gilean McVean

Nat Genet 2015 Jul 18;47(7):717-726. Epub 2015 May 18.

Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1038/ng.3304DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4601524PMC
July 2015

De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.

J Med Genet 2014 Nov 16;51(11):737-47. Epub 2014 Sep 16.

Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK NIHR Biomedical Research Centre, Oxford, UK Craniofacial Unit, Department of Plastic and Reconstructive Surgery, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford, UK.

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http://dx.doi.org/10.1136/jmedgenet-2014-102582DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4215269PMC
November 2014

Dynamic analysis of gene expression and genome-wide transcription factor binding during lineage specification of multipotent progenitors.

Cell Stem Cell 2013 Dec 10;13(6):754-68. Epub 2013 Oct 10.

Stem Cell Group, UCL Cancer Institute, University College London, London WC1E 6BT, UK; Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK.

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http://dx.doi.org/10.1016/j.stem.2013.09.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3878573PMC
December 2013

MIG: Multi-Image Genome viewer.

Bioinformatics 2013 Oct 10;29(19):2477-8. Epub 2013 Jul 10.

Computational Biology Research Group and Molecular Haemotology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Headington, Oxford OX3 9DS, UK.

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http://dx.doi.org/10.1093/bioinformatics/btt406DOI Listing
October 2013

Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.

Am J Hum Genet 2012 Jul 27;91(1):193-201. Epub 2012 Jun 27.

Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, UK.

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http://dx.doi.org/10.1016/j.ajhg.2012.05.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3397259PMC
July 2012

Global gene expression analysis of human erythroid progenitors.

Blood 2011 Mar 26;117(13):e96-108. Epub 2011 Jan 26.

Medical Research Council Molecular Hematology Unit, Weatherall Institute of Molecular Medicine, Oxford, UK.

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http://dx.doi.org/10.1182/blood-2010-07-290825DOI Listing
March 2011

Genome-wide identification of TAL1's functional targets: insights into its mechanisms of action in primary erythroid cells.

Genome Res 2010 Aug 21;20(8):1064-83. Epub 2010 Jun 21.

MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford University, Oxford OX3 9DS, United Kingdom.

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http://dx.doi.org/10.1101/gr.104935.110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2909570PMC
August 2010

CPFP: a central proteomics facilities pipeline.

Bioinformatics 2010 Apr 25;26(8):1131-2. Epub 2010 Feb 25.

Sir William Dunn School of Pathology, University of Oxford, South Parks Road, Oxford OX1 3RE, UK.

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http://dx.doi.org/10.1093/bioinformatics/btq081DOI Listing
April 2010

Many expressed genes in bacteria and yeast are transcribed only once per cell cycle.

FASEB J 2006 Aug 3;20(10):1721-3. Epub 2006 Jul 3.

Sir William Dunn School of Pathology, University of Oxford, South Parks Road, Oxford, OX1 3RE, UK.

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http://dx.doi.org/10.1096/fj.06-6087fjeDOI Listing
August 2006

Genetic dissection of the light-inducible carQRS promoter region of Myxococcus xanthus.

J Bacteriol 2004 Dec;186(23):7836-46

Department of Biological Sciences, University of Warwick, Coventry CV4 7AL, UK.

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http://dx.doi.org/10.1128/JB.186.23.7836-7846.2004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC529085PMC
December 2004