Tracy Lester

Tracy Lester

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Tracy Lester

Tracy Lester

Publications by authors named "Tracy Lester"

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22Publications

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A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication.

Eur J Hum Genet 2018 09 11;26(9):1288-1293. Epub 2018 Jun 11.

North West Thames Regional Genetic Service, London North West Hospitals NHS Trust, Harrow, Middlesex, HA1 3UJ, UK.

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http://dx.doi.org/10.1038/s41431-018-0166-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6117264PMC
September 2018

2 new cases of pontocerebellar hypoplasia type 10 identified by whole exome sequencing in a Turkish family.

Eur J Med Genet 2018 May 4;61(5):273-279. Epub 2018 Jan 4.

Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.

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http://dx.doi.org/10.1016/j.ejmg.2018.01.002DOI Listing
May 2018

Variable phenotype and discrete alterations of immune phenotypes in CTP synthase 1 deficiency: Report of 2 siblings.

J Allergy Clin Immunol 2016 12 14;138(6):1722-1725.e6. Epub 2016 Jul 14.

Clinical Immunology Group, Oxford NIHR Biomedical Research Centre, United Kingdom.

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http://dx.doi.org/10.1016/j.jaci.2016.04.059DOI Listing
December 2016

The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.

Hum Mol Genet 2012 Sep 1;21(17):3765-75. Epub 2012 Jun 1.

Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK.

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http://dx.doi.org/10.1093/hmg/dds198DOI Listing
September 2012

Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome.

Eur J Hum Genet 2012 Jul 8;20(7):769-77. Epub 2012 Feb 8.

Clinical Molecular Genetics Laboratory, Churchill Hospital, Oxford, UK.

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http://dx.doi.org/10.1038/ejhg.2012.2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3376267PMC
July 2012

Atypical Crouzon syndrome with a novel Cys62Arg mutation in FGFR2 presenting with sagittal synostosis.

Cleft Palate Craniofac J 2012 May 25;49(3):373-7. Epub 2011 Nov 25.

Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom.

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http://dx.doi.org/10.1597/11-185DOI Listing
May 2012

Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice.

Hum Mutat 2011 Aug 12;32(8):930-8. Epub 2011 Jul 12.

Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom.

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http://dx.doi.org/10.1002/humu.21521DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3170877PMC
August 2011

Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.

Pediatrics 2010 Aug 19;126(2):e391-400. Epub 2010 Jul 19.

Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1542/peds.2009-3491DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3535761PMC
August 2010

Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review.

Plast Reconstr Surg 2009 Jun;123(6):1801-10

Oxford Craniofacial Unit and the Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom.

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http://dx.doi.org/10.1097/PRS.0b013e3181a3f391DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2719244PMC
June 2009

Clinical dividends from the molecular genetic diagnosis of craniosynostosis.

Am J Med Genet A 2007 Aug;143A(16):1941-9

Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.

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http://dx.doi.org/10.1002/ajmg.a.31905DOI Listing
August 2007

Clinical dividends from the molecular genetic diagnosis of craniosynostosis.

Am J Med Genet A 2006 Dec;140(23):2631-9

Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.

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http://dx.doi.org/10.1002/ajmg.a.31366DOI Listing
December 2006