Publications

Browse our publications catalogue to learn about our research.

Targeting de novo loss of function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project

Eleanor G. Seaby, N. Simon Thomas, Amy Webb, Helen Brittain, Ana Lisa Taylor Tavares, Diana Baralle, Heidi L. Rehm, Anne O’Donnell-Luria & Sarah Ennis, 2022

DOI: 10.1101/2022.05.18.22275260

Type: other

Meta-analysis of sub-Saharan African studies provides insights into genetic architecture of lipid traits

Ananyo Choudhury, Jean-Tristan Brandenburg, Tinashe Chikowore, Dhriti Sengupta, Palwende Romuald Boua, Nigel J. Crowther, Godfred Agongo, Gershim Asiki, F. Xavier Gomez-Olive, Isaac Kisiangani, Eric Maimela, Matshane Masemola-Maphutha, Lisa K. Micklesfield, Engelbert A. Nonterah, Shane A. Norris, Hermann Sorgho, Halidou Tinto, Stephen Tollman, Sarah E. Graham, Cristen J. Willer, Scott Hazelhurst & Michele Ramsay, 2022, Nature Communications, 13

DOI: 10.1038/S41467-022-30098-W

Type: article

The impact of maternal hyperglycaemia first detected in pregnancy on offspring blood pressure in Soweto, South Africa

B.A. Boerstra, L.M. Soepnel, V. Nicolaou, A. Kolkenbeck-Ruh, J. Kagura, L.J. Ware, S.A. Norris & K. Klipstein-Grobusch, 2022, Journal of Hypertension, 40(5), 967-977

DOI: 10.1097/HJH.0000000000003102

Type: article

Carotid atherosclerosis, microalbuminuria, and estimated 10-year atherosclerotic cardiovascular disease risk in sub-saharan Africa

E.A. Nonterah, D. Boateng, N.J. Crowther, K. Klipstein-Grobusch, A.R. Oduro, G. Agongo, S.F. Mohamed, P.R. Boua, S.S.R. Choma, S.A. Norris, S.M. Tollman, M.L. Bots, M. Ramsay & D. Grobbee, 2022, JAMA Network Open, 5(4)

DOI: 10.1001/jamanetworkopen.2022.7559

Type: article

Building knowledge, optimising physical and mental health and setting up healthier life trajectories in South African women (Bukhali): a preconception randomised control trial part of the Healthy Life Trajectories Initiative (HeLTI)

Shane A Norris, Catherine E Draper, Alessandra Prioreschi, CM Smuts, Lisa Jayne Ware, CindyLee Dennis, Philip Awadalla, D Bassani, Zulfiqar Bhutta, Laurent Briollais, D William Cameron, Tobias Chirwa, B Fallon, CM Gray, Jill Hamilton, J Jamison, Heather Jaspan, Jennifer Jenkins, Kathleen Kahn, AP Kengne, Estelle V Lambert, Naomi Levitt, Marie-Claude Martin, Michele Ramsay, Daniel Roth, Stephen Scherer, Daniel Sellen, Wiedaad Slemming, Deborah Sloboda, M Szyf, Stephen Tollman, Mark Tomlinson, Suzanne Tough, Stephen G Matthews, Linda Richter & Stephen Lye, 2022, BMJ Open, 12(4)

DOI: 10.1136/bmjopen-2021-059914

Type: article

Waist circumference thresholds predicting incident dysglycaemia and type 2 diabetes in Black African men and women

J.H. Goedecke, K.A. Nguyen, C. Kufe, M. Masemola, T. Chikowore, A.E. Mendham, S.A. Norris, N.J. Crowther, F. Karpe, T. Olsson, A.P. Kengne & L.K. Micklesfield, 2022, Diabetes, Obesity and Metabolism, 24(5), 918-927

DOI: 10.1111/dom.14655

Type: article

The diagnostic accuracy of HbA_1c, compared to the oral glucose tolerance test, for screening for type 2 diabetes mellitus in Africa — A systematic review and meta-analysis

T. Chivese, J. Hirst, J.T. Matizanadzo, M. Custodio, A. Farmer, S. Norris & N. Levitt, 2022, Diabetic Medicine, 39(4)

DOI: 10.1111/dme.14754

Type: article