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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Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.

Authors:
John Taylor Jude Craft Edward Blair Sarah Wordsworth David Beeson Saleel Chandratre Judith Cossins Tracy Lester Andrea H Németh Elizabeth Ormondroyd Smita Y Patel Alistair T Pagnamenta Jenny C Taylor Kate L Thomson Hugh Watkins Andrew O M Wilkie Julian C Knight

Genome Med 2019 07 25;11(1):46. Epub 2019 Jul 25.

National Institute for Health Research Biomedical Research Centre, Oxford, UK.

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http://dx.doi.org/10.1186/s13073-019-0651-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6659244PMC
July 2019

ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.

Authors:
Graeme E Glass Justine O'Hara Natalie Canham Deirdre Cilliers David Dunaway Aimee L Fenwick Noor-Owase Jeelani David Johnson Tracy Lester Helen Lord Jenny E V Morton Hiroshi Nishikawa Peter Noons Kemmy Schwiebert Caroleen Shipster Alison Taylor-Beadling Stephen R F Twigg Pradeep Vasudevan Steven A Wall Andrew O M Wilkie Louise C Wilson

Am J Med Genet A 2019 04 13;179(4):615-627. Epub 2019 Feb 13.

Clinical Genetics Service, Great Ormond Street Hospital, London, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.61073DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6491982PMC
April 2019

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.

Authors:
Jenny Lord Dominic J McMullan Ruth Y Eberhardt Gabriele Rinck Susan J Hamilton Elizabeth Quinlan-Jones Elena Prigmore Rebecca Keelagher Sunayna K Best Georgina K Carey Rhiannon Mellis Sarah Robart Ian R Berry Kate E Chandler Deirdre Cilliers Lara Cresswell Sandra L Edwards Carol Gardiner Alex Henderson Simon T Holden Tessa Homfray Tracy Lester Rebecca A Lewis Ruth Newbury-Ecob Katrina Prescott Oliver W Quarrell Simon C Ramsden Eileen Roberts Dagmar Tapon Madeleine J Tooley Pradeep C Vasudevan Astrid P Weber Diana G Wellesley Paul Westwood Helen White Michael Parker Denise Williams Lucy Jenkins Richard H Scott Mark D Kilby Lyn S Chitty Matthew E Hurles Eamonn R Maher

Lancet 2019 02 31;393(10173):747-757. Epub 2019 Jan 31.

Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK; Department of Medical Genetics, University of Cambridge, Cambridge, UK; Cambridge Biomedical Research Centre, National Institute for Health Research, Cambridge, UK. Electronic address:

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http://dx.doi.org/10.1016/S0140-6736(18)31940-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6386638PMC
February 2019

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

Authors:
Amina Al-Yassin Alistair D Calder Mike Harrison Tracy Lester Helen Lord Michael Oldridge Sophie Watkins Richard Keen Emma L Wakeling

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.

Authors:
Mohamed Wafik John Taylor Tracy Lester Richard J Gibbons Deborah J Shears

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

Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans.

Authors:
Sharon Kim Stephen R F Twigg Victoria A Scanlon Aditi Chandra Tyler J Hansen Arwa Alsubait Aimee L Fenwick Simon J McGowan Helen Lord Tracy Lester Elizabeth Sweeney Astrid Weber Helen Cox Andrew O M Wilkie Andy Golden Ann K Corsi

Hum Mol Genet 2017 06;26(11):2118-2132

Department of Biology, The Catholic University of America, Washington, DC 20064, USA.

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http://dx.doi.org/10.1093/hmg/ddx107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5438873PMC
June 2017

Diagnostic value of exome and whole genome sequencing in craniosynostosis.

Authors:
Kerry A Miller Stephen R F Twigg Simon J McGowan Julie M Phipps Aimée L Fenwick David Johnson Steven A Wall Peter Noons Katie E M Rees Elizabeth A Tidey Judith Craft John Taylor Jenny C Taylor Jacqueline A C Goos Sigrid M A Swagemakers Irene M J Mathijssen Peter J van der Spek Helen Lord Tracy Lester Noina Abid Deirdre Cilliers Jane A Hurst Jenny E V Morton Elizabeth Sweeney Astrid Weber Louise C Wilson Andrew O M Wilkie

J Med Genet 2017 04 24;54(4):260-268. Epub 2016 Nov 24.

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

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http://dx.doi.org/10.1136/jmedgenet-2016-104215DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5366069PMC
April 2017

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

Authors:
Johannes Trück Dominic F Kelly John M Taylor Anne Kathrin Kienzler Tracy Lester Anneke Seller Andrew J Pollard Smita Y Patel

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

Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome.

Authors:
Aimee L Fenwick Jacqueline A C Goos Julia Rankin Helen Lord Tracy Lester A Jeannette M Hoogeboom Ans M W van den Ouweland Steven A Wall Irene M J Mathijssen Andrew O M Wilkie

BMC Med Genet 2014 Aug 31;15:95. Epub 2014 Aug 31.

Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Headington, Oxford OX3 9DS, UK.

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http://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881
Publisher Site
http://dx.doi.org/10.1186/s12881-014-0095-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4236556PMC
August 2014

The fibroblast growth factor receptor 2 p.Ala172Phe mutation in Pfeiffer syndrome--history repeating itself.

Authors:
Sally Jay Akira Wiberg Marc Swan Tracy Lester Louise J Williams Indira B Taylor David Johnson Andrew O M Wilkie

Am J Med Genet A 2013 May 26;161A(5):1158-63. Epub 2013 Mar 26.

Department of Plastic Surgery, John Radcliffe Hospital, Oxford, UK.

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http://dx.doi.org/10.1002/ajmg.a.35842DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3652025PMC
May 2013

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.

Authors:
Stephen R F Twigg Elena Vorgia Simon J McGowan Ioanna Peraki Aimée L Fenwick Vikram P Sharma Maryline Allegra Andreas Zaragkoulias Elham Sadighi Akha Samantha J L Knight Helen Lord Tracy Lester Louise Izatt Anne K Lampe Shehla N Mohammed Fiona J Stewart Alain Verloes Louise C Wilson Chris Healy Paul T Sharpe Peter Hammond Jim Hughes Stephen Taylor David Johnson Steven A Wall George Mavrothalassitis Andrew O M Wilkie

Nat Genet 2013 Mar 27;45(3):308-13. Epub 2013 Jan 27.

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

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http://dx.doi.org/10.1038/ng.2539DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3683605PMC
March 2013

Pure de novo partial trisomy 6p in a girl with craniosynostosis.

Authors:
Konstantinos Varvagiannis Amalia Stefanidou Yolanda Gyftodimou Helen Lord Louise Williams Catherine Sarri Efi Pandelia Euterpe Bazopoulou-Kyrkanidou Charlotte Noakes Tracy Lester Andrew O M Wilkie Michael B Petersen

Am J Med Genet A 2013 Feb 10;161A(2):343-51. Epub 2013 Jan 10.

Department of Genetics, Institute of Child Health, Athens, Greece.

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http://dx.doi.org/10.1002/ajmg.a.35727DOI Listing
February 2013

Segmental paternal uniparental disomy of chromosome 14 in a 4-year-old boy.

Authors:
Victoria Harrison Jane Hurst Anjali Lloyd-Jani Tracy Lester Margaret Lever Somai Man Anthony O'Rourke David Robinson Melody Tabiner Rosy Williams Usha Kini

Clin Dysmorphol 2012 Oct;21(4):208-11

Department of Clinical Genetics, Churchill Hospital, Oxford, UK.

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http://dx.doi.org/10.1097/MCD.0b013e328356da42DOI Listing
October 2012

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

Authors:
Judith Cossins Wei Wei Liu Katsiaryna Belaya Susan Maxwell Michael Oldridge Tracy Lester Stephanie Robb David Beeson

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.

Authors:
Michael Bowman Michael Oldridge Caroline Archer Anthony O'Rourke Joanna McParland Roel Brekelmans Anneke Seller Tracy Lester

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.

Authors:
Vikram P Sharma Steven A Wall Helen Lord Tracy Lester Andrew O M Wilkie

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.

Authors:
Christian Babbs Helen S Stewart Louise J Williams Lyndsey Connell Anne Goriely Stephen R F Twigg Kim Smith Tracy Lester Andrew O M Wilkie

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

Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes.

Authors:
Anne Goriely Helen Lord Jasmine Lim David Johnson Tracy Lester Helen V Firth Andrew O M Wilkie

Am J Med Genet A 2010 Aug;152A(8):2067-73

Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

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http://doi.wiley.com/10.1002/ajmg.a.33513
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.33513DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2988406PMC
August 2010

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

Authors:
Andrew O M Wilkie Jo C Byren Jane A Hurst Jayaratnam Jayamohan David Johnson Samantha J L Knight Tracy Lester Peter G Richards Stephen R F Twigg Steven A Wall

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.

Authors:
Roger H Woods Ehtesham Ul-Haq Andrew O M Wilkie Jayaratnam Jayamohan Peter G Richards David Johnson Tracy Lester Steven A Wall

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.

Authors:
Andrew O M Wilkie Elena G Bochukova Ruth M S Hansen Indira B Taylor Sahan V Rannan-Eliya Jo C Byren Steven A Wall Lina Ramos Margarida Venâncio Jane A Hurst Anthony W O'rourke Louise J Williams Anneke Seller Tracy Lester

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.

Authors:
Andrew O M Wilkie Elena G Bochukova Ruth M S Hansen Indira B Taylor Sahan V Rannan-Eliya Jo C Byren Steven A Wall Lina Ramos Margarida Venâncio Jane A Hurst Anthony W O'Rourke Louise J Williams Anneke Seller Tracy Lester

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