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Author Details

Tracy Lester
Oxford University Hospitals NHS Foundation Trust, Churchill Hospital
1994
40
19
PMIDPaper TitleJournal TitlePublished Year
36896672The prevalence and phenotypic range associated with biallelic PKDCC variants.Clin Genet2023
37946251Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.Genome Med2023
34782440Variable skeletal phenotypes associated with biallelic variants in <i>PRKG2</i>.J Med Genet2022
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
35047859Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.HGG Adv2021
32636483Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.Genet Med2020
30758909ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.Am J Med Genet A2019
31345272Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.Genome Med2019
293077882 new cases of pontocerebellar hypoplasia type 10 identified by whole exome sequencing in a Turkish family.Eur J Med Genet2018
29891876A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication.Eur J Hum Genet2018
27884935Diagnostic value of exome and whole genome sequencing in craniosynostosis.J Med Genet2017
28369379Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans.Hum Mol Genet2017
27738187Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A&gt;G p.(Tyr89Cys) variant in the <i>ERF</i> gene.J Med Genet2017
27543071Variable phenotype and discrete alterations of immune phenotypes in CTP synthase 1 deficiency: Report of 2 siblings.J Allergy Clin Immunol2016
25174698Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome.BMC Med Genet2014
23354439Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.Nat Genet2013
23532954The fibroblast growth factor receptor 2 p.Ala172Phe mutation in Pfeiffer syndrome--history repeating itself.Am J Med Genet A2013
23307468Pure de novo partial trisomy 6p in a girl with craniosynostosis.Am J Med Genet A2013
22117175Atypical Crouzon syndrome with a novel Cys62Arg mutation in FGFR2 presenting with sagittal synostosis.Cleft Palate Craniofac J2012
22797553Segmental paternal uniparental disomy of chromosome 14 in a 4-year-old boy.Clin Dysmorphol2012
22661499The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.Hum Mol Genet2012
22317976Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome.Eur J Hum Genet2012
21094519Polymorphous lymphoproliferative disorder with Hodgkin-like features in common γ-chain-deficient severe combined immunodeficiency.J Allergy Clin Immunol2011
21542058Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice.Hum Mutat2011
20643727Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.Pediatrics2010
20635358Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes.Am J Med Genet A2010
19483581Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review.Plast Reconstr Surg2009
17621648Clinical dividends from the molecular genetic diagnosis of craniosynostosis.Am J Med Genet A2007
16838304Clinical dividends from the molecular genetic diagnosis of craniosynostosis.Am J Med Genet A2006
14514918Immunological and genetic analysis of 65 patients with a clinical suspicion of X linked hyper-IgM.Mol Pathol2003
11260071Rapid protein-based assays for the diagnosis of T-B+ severe combined immunodeficiency.Br J Haematol2001
10792386Kinase mutant Btk results in atypical X-linked agammaglobulinaemia phenotype.Clin Exp Immunol2000
10220140Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia.Hum Mutat1999
9486400Bruton's tyrosine kinase expression and activity in X-linked agammaglobulinaemia (XLA): the use of protein analysis as a diagnostic indicator of XLA.Clin Exp Immunol1998
9399844BTKbase, mutation database for X-linked agammaglobulinemia (XLA).Nucleic Acids Res1998
9016530BTKbase, mutation database for X-linked agammaglobulinemia (XLA)Nucleic Acids Res1997
9280283Missense mutations affecting a conserved cysteine pair in the TH domain of Btk.FEBS Lett1997
7557965Screening for mutations causing X-linked severe combined immunodeficiency in the IL-2R gamma chain gene by single-strand conformation polymorphism analysis.Hum Genet1995
7815443Trisomy X in a female member of a family with X linked severe combined immunodeficiency: implications for carrier diagnosis.J Med Genet1994
8071966Deletion mapping of the DXS986, DXS995, and DXS1002 loci defines their order within Xq21.J Med Genet1994
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Collaborators

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Jenny C Taylor
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Philip Twiss
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Francesco Muntoni
UCL Great Ormond Street Institute of Child Health
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Antonio Rueda Martin
Queen Mary University of London
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Shalini N Jhangiani
Baylor College of Medicine
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Dragana Josifova
Guy's and St Thomas' Hospital
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Douglass M Turnbull
Newcastle University
Co-authored papers 1
Valentina Cipriani
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Christopher Boustred
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Anna de Burca
Oxford University Hospitals NHS Foundation Trust
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Charu Deshpande
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