Publications

Browse our publications catalogue to learn about our research.
MAJIQ-CLIN: A novel tool for the identification of 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
DOI: 10.1101/2025.01.30.25321185
Type: article
Rare variants in embryonic development and cell signalling genes in syndromic and non-syndromic orofacial clefts: Evidence from a Colombian Caribbean cohort
Alejandro Silva, Carolina Jaramillo Oquendo, Jaime E. Bernal, Julio Cesar Martinez, Andrew Collins, Ignacio Briceno, Escilda Benavides, Zulieth López Arrieta & Sarah Ennis, 2026, Journal of Human Genetics, 71(7), 443-451
DOI: 10.1038/s10038-026-01466-x
Type: article
Outcomes of hyperglycaemia in pregnancy in Africa: systematic review and meta-analysis
Ezekiel Musa, Tawanda Chivese, Mahmoud Werfalli, Larske M. Soepnel, Veronique Nicolaou, Mushi Matjila, Shane A. Norris & Naomi Levitt, 2026, PLoS ONE, 21(3 March)
DOI: 10.1371/journal.pone.0345743
Type: article
Preconception mental health (Healthy Life Trajectories Initiative): Identifying factors associated with probable anxiety and depression among young women living in urban-poor South Africa
Shane A. Norris, Claire Hart, Lukhanyo H. Nyati, Wihan Taljaard, Rayjean J. Hung, Ravi Retnakaran, Stephen Lye, Catherine E. Draper & Ashleigh Craig, 2026, PLoS Medicine, 3
DOI: 10.1371/journal.pmen.0000578
Type: article
Antibiotic overuse as a modifiable early-life risk factor for non-communicable diseases in sub Saharan Africa
Michelle Leal, Johanni Beukes, Stephanie Alcock, Ulridge Thompson & Shane A. Norris, 2026, Global Health Action, 19(1)
DOI: 10.1080/16549716.2026.2646042
Type: article
Intervention to optimise body mass index in adolescents and address the triple burden of malnutrition—the Ntshembo (Hope) trial in rural and urban South Africa study: a study protocol for a randomised controlled trial
S.A. Norris, L.K. Micklesfield, N.J. Christofides, S.H. Crouch, D.E. Mathatha, C. Desmond, S.J. Sharp, K.K. Ong, Stephen Tollman & K. Kahn, 2026, Trials, 27(1)
DOI: 10.1186/s13063-026-09535-4
Type: article
Paired DNA and RNA sequencing uncovers common and rare genetic variants regulating gene expression in the human retina
Jacob Sampson, Ayellet V. Segrè, Kinga M. Bujakowska, Simon J. Clark, Paul N. Bishop, Steve Haynes, Diana Baralle, Jospin Al-Deek, Stacey Holden & et al, 2026, Nature Communications
DOI: 10.1101/2025.04.25.25326445
Type: article