Publications by authors named "Simon Holden"

27Publications

Establishment of long-term ostracod epidermal culture.

In Vitro Cell Dev Biol Anim 2020 Oct 9;56(9):760-772. Epub 2020 Oct 9.

School of Optometry and Vision Sciences, Cardiff University, Cardiff, CF24 4HQ, UK.

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October 2020

Taking consent for neonatal microarray analysis as a screen for genomic rearrangements: are paediatricians equipped for the genomic era?

Arch Dis Child 2020 10 28;105(10):1021-1022. Epub 2019 Sep 28.

Rosie Neonatal Unit, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.

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October 2020

Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay.

J Inherit Metab Dis 2017 05 2;40(3):385-394. Epub 2017 Mar 2.

Centre for Translational Omics, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK.

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May 2017

Recurrent missense mutation of () causes proximal symphalangism in a British family.

World J Orthop 2016 Dec 18;7(12):839-842. Epub 2016 Dec 18.

Andreas Leonidou, Marcos Katchburian, Department of Trauma and Orthopaedic Surgery, Maidstone and Tunbridge Wells NHS Trust, Tunbridge Wells TN2 4QJ, United Kingdom.

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December 2016

Spontaneous pneumothorax can be associated with TGFBR2 mutation.

Eur Respir J 2015 Dec 22;46(6):1832-5. Epub 2015 Oct 22.

Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK

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December 2015

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

J Med Genet 2014 Oct 14;51(10):659-68. Epub 2014 Aug 14.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.

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October 2014

Results of Duchenne muscular dystrophy family screening in practice: leaks rather than cascades?

Clin Genet 2013 Feb 9;83(2):187-90. Epub 2012 Apr 9.

North Scotland Regional Genetics Service, Clinical Genetics Centre, Ashgrove House, Foresterhill, Aberdeen, UK.

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February 2013

Penetrance for copy number variants associated with schizophrenia.

Hum Mol Genet 2010 Sep 29;19(17):3477-81. Epub 2010 Jun 29.

Institute of Psychiatry, MRC SGDP Centre, King's College London, London, UK.

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September 2010

Clearance after vasectomy: has the time come to modify the current practice?

Scand J Urol Nephrol 2010 Apr;44(3):147-50

Department of Urology, Whipps Cross University Hospital, London, UK.

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April 2010