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Queen Mary University of London: London, London, GB

2016-01-01 to present | Senior Lecturer (Clinical Pharmacology)
Employment
Source: Self-asserted source
Damian Smedley

Works (21)

The genomic landscape of syndromic and non-syndromic hearing loss within the 100,000 Genomes Project cohort

2025-02-07 | Preprint
Contributors: Letizia Vestito; Damian Smedley; Valentina Cipriani; Gudrun E Moore; Philip Stanier; Michael R Bowl; Sally J Dawson; Emma Clement; Maria Bitner-Glindzicz
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The spectrum of gene intolerance to variation: Insights from a rare disease cohort

2025-01-29 | Preprint
Contributors: Pilar Cacheiro; Gabriel Marengo; David U. Gorkin; Kevin A. Peterson; Yonina Loskove; Stephen A. Murray; Damian Smedley
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IMPC impact on preclinical mouse models

Mammalian Genome
2025-01-16 | Journal article
Contributors: Sabine M. Hölter; Pilar Cacheiro; Damian Smedley; K. C. Kent Lloyd
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Crossref

Efficient reinterpretation of rare disease cases using Exomiser

npj Genomic Medicine
2024-12-18 | Journal article
Contributors: Letizia Vestito; Julius O. B. Jacobsen; Susan Walker; Valentina Cipriani; Nomi L. Harris; Melissa A. Haendel; Christopher J. Mungall; Peter Robinson; Damian Smedley
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Crossref

De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity

Brain
2024-11-04 | Journal article
Contributors: Mehdi Benkirane; Marion Bonhomme; Heba Morsy; Stephanie L Safgren; Cecilia Marelli; Annabelle Chaussenot; Damian Smedley; Valentina Cipriani; Jean-Madeleine de Sainte-Agathe; Can Ding et al.
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Crossref

Lethal phenotypes in Mendelian disorders

Genetics in Medicine
2024-07 | Journal article
Contributors: Pilar Cacheiro; Samantha Lawson; Ignatia B. Van den Veyver; Gabriel Marengo; David Zocche; Stephen A. Murray; Michael Duyzend; Peter N. Robinson; Damian Smedley
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Crossref

Improving prenatal diagnosis through standards and aggregation

Prenatal Diagnosis
2024-04 | Journal article
Contributors: Michael H. Duyzend; Pilar Cacheiro; Julius O. B. Jacobsen; Jessica Giordano; Harrison Brand; Ronald J. Wapner; Michael E. Talkowski; Peter N. Robinson; Damian Smedley
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Crossref

Lethal phenotypes in Mendelian disorders

2024-01-13 | Preprint
Contributors: Pilar Cacheiro; Samantha Lawson; Ignatia B. Van den Veyver; Gabriel Marengo; David Zocche; Stephen A. Murray; Michael Duyzend; Peter N. Robinson; Damian Smedley
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Crossref

The Monarch Initiative in 2024: An analytic platform integrating phenotypes, genes, and diseases across species

2023-11-02 | Other
Contributors: Tim Putman; Vincent Rubinetti; Peter Robinson; Damian Smedley; Nicolas Matentzoglu; Kevin Schaper; Faisal Alquaddoomi; Corey Cox; Harry Caufiled; Glass Elsarboukh et al.
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Crossref

A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele

2023-06-22 | Other
Contributors: Zoe Crane-Smith; Yunping Lei; Emma Mather; Chloe Santos; Paul Wolujewicz; Mark Hopkinson; Andrew Pitsillides; Nicholas Greene; Elizabeth Ross; Damian Smedley et al.
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Knockout mice are an important tool for human monogenic heart disease studies

Disease Models & Mechanisms
2023-05-01 | Journal article
Contributors: Pilar Cacheiro; Nadine Spielmann; Hamed Haseli Mashhadi; Helmut Fuchs; Valerie Gailus-Durner; Damian Smedley; Martin Hrabĕ de Angelis
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Crossref

Post-GWAS machine learning prioritizes key genes regulating blood pressure

2023-04-03 | Preprint
Contributors: Hannah Nicholls; Fu Liang Ng; David Watson; Julius Jacobsen; Helen Warren; Pilar Cacheiro; Damian Smedley; Patricia Munroe; Mark Caulfield; Claudia Cabrera et al.
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Phenotype-aware prioritisation of rare Mendelian disease variants

Trends in Genetics
2022-12 | Journal article
Contributors: Catherine Kelly; Anita Szabo; Nikolas Pontikos; Gavin Arno; Peter N. Robinson; Jules O.B. Jacobsen; Damian Smedley; Valentina Cipriani
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Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases

Briefings in Bioinformatics
2022-09-20 | Journal article
Contributors: Julius O B Jacobsen; Catherine Kelly; Valentina Cipriani; Peter N Robinson; Damian Smedley
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Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease

Human Mutation
2022-08 | Journal article
Contributors: Julius O. B. Jacobsen; Catherine Kelly; Valentina Cipriani; Genomics England Research Consortium; Christopher J. Mungall; Justin Reese; Daniel Danis; Peter N. Robinson; Damian Smedley
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100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report

New England Journal of Medicine
2021-11-11 | Journal article
Contributors: Damian Smedley; Katherine R. Smith; Antonio Martin; Ellen A. Thomas; Ellen M. McDonagh; Valentina Cipriani; Jamie M. Ellingford; Gavin Arno; Arianna Tucci; Jana Vandrovcova et al.
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Interpretable prioritization of splice variants in diagnostic next-generation sequencing

2021-01-28 | Preprint
Contributors: Daniel Danis; Julius O.B. Jacobsen; Leigh Carmody; Michael Gargano; Julie A McMurry; Ayushi Hegde; Melissa A Haendel; Giorgio Valentini; Damian Smedley; Peter N Robinson
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Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project

European Journal of Human Genetics
2020-12 | Journal article
Contributors: Thomas Bourinaris; Damian Smedley; Valentina Cipriani; Isabella Sheikh; Alkyoni Athanasiou-Fragkouli; Patrick Chinnery; Huw Morris; Raquel Real; Victoria Harrison; Evan Reid et al.
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OpenStats: A Robust and Scalable Software Package for Reproducible Analysis of High-Throughput Phenotypic Data

2020-05-15 | Preprint
Contributors: Hamed Haselimashhadi; Jeremy C Mason; Ann-Marie Mallon; Damian Smedley; Terrence F Meehan; Helen Parkinson
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New models for human disease from the International Mouse Phenotyping Consortium

Mammalian Genome
2019-06 | Journal article
Contributors: Pilar Cacheiro; Melissa A. Haendel; Damian Smedley
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A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction

Nature Communications
2017-12 | Journal article
Contributors: Michael R. Bowl; Michelle M. Simon; Neil J. Ingham; Simon Greenaway; Luis Santos; Heather Cater; Sarah Taylor; Jeremy Mason; Natalja Kurbatova; Selina Pearson et al.
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Peer review (1 review for 1 publication/grant)

Review activity for Mammalian genome. (1)