Lester Tracy - Oxford Medical Genetics Laboratories, Oxford University Hospitals

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论文共 45 篇作者统计合作学者相似作者

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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, Christine Pamela Burren

BMC Medical Genomicsno. 1 (2024): 1-6

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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,Francis Jeshira Reynoso Santos,Alesky Caffo,Matteo Ferla,Benito Banos-Pinero, Karolina Pawliczak,Mina Makvand,Hossein Najmabadi,

Clinical genetics（2023）

引用2浏览0WOS引用

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,Eduardo Calpena,Pamela J. Kaisaki, Akiko Hashimoto,Jing Yu,Edward Sanders,Ron Schwessinger,Jim R. Hughes,

GENOME MEDICINEno. 1 (2023): 1-25

引用2浏览0WOS引用

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

, Genomes Project Pilot Investigators,Damian Smedley,Katherine R Smith, Antonio Martin,Ellen A Thomas,Ellen M McDonagh,Valentina Cipriani,Jamie M Ellingford,Gavin Arno,Arianna Tucci,Jana Vandrovcova,Georgia Chan,

The New England journal of medicine（2021）

引用262浏览0WOS引用

262

Variable Skeletal Phenotypes Associated with Biallelic Variants in PRKG2

Alistair T. Pagnamenta,Francisca Diaz-Gonzalez,Benito Banos-Pinero,Matteo P. Ferla,Mehran B. Toosi,Alistair D. Calder,Ehsan G. Karimiani,Mohammad Doosti,Andrew Wainwright,Paul Wordsworth,Kathryn Bailey,Katarina Ejeskaer,

JOURNAL OF MEDICAL GENETICS（2021）

引用5浏览0WOS引用

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,Moez Dawood, Patricia Celestino Soper, Ariadne Ramalho de Lima,Bárbara Merfort Ferreira,Zeynep Coban-Akdemir,Janson White,Deborah Shears,

HGG advances（2021）

引用15浏览0WOS引用

ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2020

Sian Ellard,Emma L Baple,Alison Callaway,Ian Berry,Natalie Forrester, Clare, Turnbull,Martina Owens,Diana M Eccles,Stephen Abbs,Richard Scott, C Zandra,

semanticscholar（2020）

引用3浏览0引用

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

Eduardo Calpena,Araceli Cuellar,Krithi Bala,Sigrid M. A. Swagemakers,Nils Koelling,Simon J. McGowan,Julie M. Phipps,Meena Balasubramanian,Michael L. Cunningham,Sofia Douzgou,Wanda Lattanzi,Jenny E. V. Morton,

Genetics in Medicineno. 9 (2020): 1498-1506

引用30浏览0WOS引用

Correction: SMAD6 Variants in Craniosynostosis: Genotype and Phenotype Evaluation

Genetics in Medicineno. 9 (2020): 1567-1567

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S14-08 SESSION 14: FACIOCRANIOSYNOSTOSIS – PART III A COMPREHENSIVE PHENOTYPIC STUDY OF ERF-RELATED CRANIOSYNOSTOSIS

G. E. Glass,J. O’Hara, N. Canham, D. Cilliers,D. Dunaway,A. Fenwick,N.-O. Jeelani, D. Johnson,T. Lester,H. Lord, J. Morton, H. Nishikawa,

Plastic and Reconstructive Surgery - Global Openno. 8S-2 (2019): 172-172

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