Damian Smedley

42PUBLICATIONS
529CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Computational linguisticsEnvironmental epidemiologySoftware quality, processes and metricsMedical biotechnology diagnostics (incl. biosensors)
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Publications (42)

|Apr 03, 2026
Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library.

Jenny Lord, Alistair T Pagnamenta, Letizia Vestito

|Feb 24, 2026
Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools.

Justin T Reese, Leonardo Chimirri, Yasemin Bridges

|Feb 06, 2026
A Phenotypic Paradigm for Cerebral Palsy Genetics.

Adam S Arterbery, Michael A Gargano, Anita Bagley

|Nov 13, 2025
Family health history and pharmacogenomics show cross generation premature amitriptyline discontinuation is associated with CYP2C19 loss of-function enrichment.

Emma F Magavern, Gabriel Marengo, Maia Megase

|Nov 13, 2025
International Mouse Phenotyping Consortium Portal: facilitating investigation of gene function and providing insights into human disease.

Robert Wilson, Tuğba Bülbül Ataç, Tsz Kwan Cheng

|Oct 06, 2025
Mondo: integrating disease terminology across communities.

Nicole A Vasilevsky, Sabrina Toro, Nicolas Matentzoglu

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Frequent Collaborators

21 joint publications

Peter Robinson

17 joint publications

Julius Ob Jacobsen

13 joint publications

Melissa Haendel

11 joint publications

Christopher J Mungall