Publications

Browse our publications catalogue to learn about our research.

RNA sequencing significantly improves HYDIN diagnosis and defines the effects of common deletion in primary ciliary dyskinesia

Carolina Jaramillo Oquendo, Janice Coles, Lee Baker, David J. Bunyan, N. Simon Thomas, James Thompson, Gemma Fryatt, Sajida Khan, David Hunt, John Holloway, Jane S. Lucas, Diana Baralle, Woolf T. Walker & Claire Jackson, 2026, European Journal of Human Genetics

DOI: 10.21203/rs.3.rs-9545795/v1

Type: article

Impact of and recovery after Covid-19 on breast cancer diagnosis and care in Johannesburg, South Africa

Rebaone Petlele, Raylton P. Chikwati, Olaide O. Ojoniyi, Monica Ewomazino Akokuwebe, Wenlong Carl Chen, Nivashini Murugan, et al & Shane A. Norris, 2026, BMC cancer, 26(1)

DOI: 10.1186/s12885-026-17068-x

Type: article

Health economic evaluation of hip fracture care pathways in The Gambia

Nyashadzaishe Mafirakureva, Kebba S. Marenah, Anya Burton, Tafadzwa Madanhire, Hannah Wilson, Momodou K. Jallow, Awa Touray, Lucy Gates, Bintou Trawally, Simon Matthew Graham, James Masters, Matthew L. Costa, Kate A. Ward, Celia L. Gregson & Sian M. Noble, 2026, BMJ Global Health, 11(9)

DOI: 10.1136/bmjgh-2025-022219

Type: article

RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: results from the ENIGMA consortium

Joanna Domènech-Vivó, Hélène Tubeuf, Romy L.S. Mesman, Aurelie Drouet, Mélanie Girardi, María Concepción Alonso-Cerezo & Diana Baralle, 2026, The American Journal of Human Genetics, 113(9), 1894-1915

DOI: 10.1016/j.ajhg.2026.08.001

Type: article

MAJIQ-CLIN: a novel tool to help identify Mendelian disease-causing variants from RNA-Seq data

Joseph K. Aicher, Dina Issakova, Barry Slaff, San Jewell, Nicholas F. Lahens, Gregory R. Grant, Diana Baralle, Jill A. Rosenfeld, Daryl A. Scott, Elizabeth J. Bhoj & Yoseph Barash, 2026, Genetics in Medicine, 28(9)

DOI: 10.1016/j.gim.2026.102628

Type: article

Proteomics identify disease-associated variants in patients with rare diseases undiagnosed after genome sequencing

Julia Carrasco-Zanini, Jorge Andrade, Maik Pietzner, Athanasios Kousathanas, Julius O.B. Jacobsen, Jenny Lord, Narasimha Telugu, Sebastian Diecke, Michael Mülleder, Dominik Bierbaum, Letizia Vestito, Peter N. Robinson, Markus Ralser, Diana Baralle & Nicholas J. Wareham, 2026, Science Translational Medicine, 18(866)

DOI: 10.1126/scitranslmed.aeb1331

Type: article

Automated genepy gene-burden computation via a reproducible nextflow workflow integrated with the genomics England (gel) lifebit platform

Iman Nazari, Guo Cheng, James Ashton & Sarah Ennis, 2026, NAR Genomics and Bioinformatics

Type: article