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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
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
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
Mental health in context : sociodemographic differences in mental health knowledge, attitudes, behaviour, and diagnosis in South Africa
Stephanie Alcock, Michelle Leal, Johanna Beukes, Ulridge Thompson & Shane A. Norris, 2026, South African Journal of Psychology
DOI: 10.1177/00812463261478422
Type: article
“Motherhood is a work in progress” : a qualitative longitudinal study of maternal subjectivity and well-being of women in the Bukhali trial in Soweto, South Africa
Neusa Torres, Daniella Watson, Lerato Mohlomi, Tsakani Hlungwani, Caitlin V. Gardiner, Noreth Muller-Kluits, Shane A. Norris, Catherine E. Draper & Michelle Pentecost, 2026, Frontiers in Global Women's Health, 7
DOI: 10.3389/fgwh.2026.1880613
Type: article
Participants’ perceptions of the preconception phase of the Bukhali trial for young women in Soweto, South Africa : a qualitative study
Catherine E. Draper, Nosibusiso Tshetu, Nokuthula Nkosi, Stephen Lye & Shane A. Norris, 2026, Women's Health, 22
DOI: 10.1177/17455057261469051
Type: article