Publications

Browse our publications catalogue to learn about our research.

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

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

The epidemiology of Healthy Ageing Scores in mid-age and older adults from The Gambia, Zimbabwe and South Africa: a cross-sectional study

Anthony M. Manyara, Albert Sanchez-Niubo, Etheldreda I.Y. Madela, Tadios Manyanga, Millie Pearse, Lucy Gates, Kate A. Ward & Celia L. Gregson, 2026, The Lancet Regional Health - Africa

DOI: 10.1016/j.lanafr.2026.100134

Type: article

Evolving roles within the genomic medicine workforce: a revised framework for UK practice—position on behalf of the Association of Genetic Nurses and Counsellors and the Clinical Genetics Society

Roberta Rizzo, Meena Balasubramanian, Diana Baralle, Catriona Corsie, Catherine Houghton, Bethany Lumborg, Emma Tonkin & Mohnish Suri, 2026, British Medical Journal

DOI: 10.1136/jmg-2025-111340

Type: article