Publications by authors named "Tracy Lester"

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Identification of a novel TGFB1 variant in a patient with Camurati-Engelmann disease responsive to alendronate.
Neelam Hassan, Celia L Gregson, Michael Oldridge, Tracy Lester, Emma L Duncan

Rheumatology (Oxford)· December 2025

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Congenital hallux valgus occurs in Fibrodysplasia Ossificans Progressiva and BMPR1B-associated dysplasia: an important distinction.
Diksha Shirodkar, Sarah Francesca Smithson, Richard Keen, Tracy Lester, Benito Banos-Pinero

BMC Med Genomics· June 2024

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Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Alistair T Pagnamenta, Carme Camps, Edoardo Giacopuzzi, John M Taylor, Mona Hashim, Tracy Lester

Genome Med· November 2023

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The prevalence and phenotypic range associated with biallelic PKDCC variants.
Alistair T Pagnamenta, Rebecca S Belles, Bonnie Anne Salbert, Ingrid M Wentzensen, Maria J Guillen Sacoto, Tracy Lester

Clin Genet· July 2023

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Variable skeletal phenotypes associated with biallelic variants in .
Alistair T Pagnamenta, Francisca Diaz-Gonzalez, Benito Banos-Pinero, Matteo P Ferla, Mehran B Toosi, Tracy Lester

J Med Genet· October 2022

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Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.
Chaofan Zhang, Angad Jolly, Brian J Shayota, Juliana F Mazzeu, Haowei Du, Tracy Lester

HGG Adv· January 2022

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100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

N Engl J Med· November 2021

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SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
Eduardo Calpena, Araceli Cuellar, Krithi Bala, Sigrid M A Swagemakers, Nils Koelling, Tracy Lester

Genet Med· September 2020

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Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
Eduardo Calpena, Araceli Cuellar, Krithi Bala, Sigrid M A Swagemakers, Nils Koelling, Tracy Lester

Genet Med· September 2020

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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.
John Taylor, Jude Craft, Edward Blair, Sarah Wordsworth, David Beeson, Tracy Lester

Genome Med· July 2019

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ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.
Graeme E Glass, Justine O'Hara, Natalie Canham, Deirdre Cilliers, David Dunaway, Tracy Lester

Am J Med Genet A· April 2019

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Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
Jenny Lord, Dominic J McMullan, Ruth Y Eberhardt, Gabriele Rinck, Susan J Hamilton, Tracy Lester

Lancet· February 2019

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A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication.
Amina Al-Yassin, Alistair D Calder, Mike Harrison, Tracy Lester, Helen Lord

Eur J Hum Genet· September 2018

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2 new cases of pontocerebellar hypoplasia type 10 identified by whole exome sequencing in a Turkish family.
Mohamed Wafik, John Taylor, Tracy Lester, Richard J Gibbons, Deborah J Shears

Eur J Med Genet· May 2018

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Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans.
Sharon Kim, Stephen R F Twigg, Victoria A Scanlon, Aditi Chandra, Tyler J Hansen, Tracy Lester

Hum Mol Genet· June 2017

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Diagnostic value of exome and whole genome sequencing in craniosynostosis.
Kerry A Miller, Stephen R F Twigg, Simon J McGowan, Julie M Phipps, Aimée L Fenwick, Tracy Lester

J Med Genet· April 2017

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Variable phenotype and discrete alterations of immune phenotypes in CTP synthase 1 deficiency: Report of 2 siblings.
Johannes Trück, Dominic F Kelly, John M Taylor, Anne Kathrin Kienzler, Tracy Lester

J Allergy Clin Immunol· December 2016

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Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome.
Aimee L Fenwick, Jacqueline A C Goos, Julia Rankin, Helen Lord, Tracy Lester

BMC Med Genet· August 2014

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The fibroblast growth factor receptor 2 p.Ala172Phe mutation in Pfeiffer syndrome--history repeating itself.
Sally Jay, Akira Wiberg, Marc Swan, Tracy Lester, Louise J Williams

Am J Med Genet A· May 2013

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Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.
Stephen R F Twigg, Elena Vorgia, Simon J McGowan, Ioanna Peraki, Aimée L Fenwick, Tracy Lester

Nat Genet· March 2013

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Pure de novo partial trisomy 6p in a girl with craniosynostosis.
Konstantinos Varvagiannis, Amalia Stefanidou, Yolanda Gyftodimou, Helen Lord, Louise Williams, Tracy Lester

Am J Med Genet A· February 2013

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Segmental paternal uniparental disomy of chromosome 14 in a 4-year-old boy.
Victoria Harrison, Jane Hurst, Anjali Lloyd-Jani, Tracy Lester, Margaret Lever

Clin Dysmorphol· October 2012

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The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.
Judith Cossins, Wei Wei Liu, Katsiaryna Belaya, Susan Maxwell, Michael Oldridge, Tracy Lester

Hum Mol Genet· September 2012

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Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome.
Michael Bowman, Michael Oldridge, Caroline Archer, Anthony O'Rourke, Joanna McParland, Tracy Lester

Eur J Hum Genet· July 2012

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Atypical Crouzon syndrome with a novel Cys62Arg mutation in FGFR2 presenting with sagittal synostosis.
Vikram P Sharma, Steven A Wall, Helen Lord, Tracy Lester, Andrew O M Wilkie

Cleft Palate Craniofac J· May 2012

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