Publications

Browse our publications catalogue to learn about our research.

Predicting the impact of rare variants on RNA splicing in CAGI6

Jenny Lord, Carolina Jaramillo Oquendo, Htoo A. Wai, Andrew G.L. Douglas, David J. Bunyan, Yaqiong Wang, Zhiqiang Hu, Zishuo Zeng, Daniel Danis, Panagiotis Katsonis, Amanda Williams, Oliver Lichtarge, Yuchen Chang, Richard D. Bagnall, Stephen M. Mount, Brynja Matthiasardottir, Chiaofeng Lin, Thomas van Overeem Hansen, Raphael Leman, Alexandra Martins, Claude Houdayer, Sophie Krieger, Constantina Bakolitsa, Yisu Peng, Akash Kamandula, Predrag Radivojac & Diana Baralle, 2024, Human Genetics

DOI: 10.1007/s00439-023-02624-3

Type: article

Association of maternal prenatal copper concentration with gestational duration and preterm birth: a multicountry meta-analysis

Shane A. Norris & et al, 2024, American Journal of Clinical Nutrition, 119(1), 221-231

DOI: 10.1016/j.ajcnut.2023.10.011

Type: article

Long-term safety and efficacy outcomes of valoctocogene roxaparvovec gene transfer up to six years post-treatment

Emily Symington, Savita Rangarajan, Will Lester, Bella Madan, Glenn F. Pierce, Priyanka Raheja, Tara M. Robinson, Dane Osmond, Chris B. Russell, Christian Vettermann, Suresh K. Agarwal, Mingjin Li, Wing Yen Wong & Michael Laffan, 2024, Haemophilia

Type: article

Estimating total energy expenditure to determine energy requirements in free-living children with stage 3 chronic kidney disease: can a structured approach help improve clinical care?

Caroline E. Anderson, Rodney D. Gilbert, Matthew Harmer, Patrick Ritz, Stephen Wootton & Marinos Elia, 2024, Journal of Renal Nutrition, 34(1), 11-18

DOI: 10.1053/j.jrn.2023.07.002

Type: article

Ultrastructural cilia defects in multi-ciliated uterine glandular epithelial cells from women with reproductive failure

Jennifer E. Pearson-Farr, Regan Doherty, David S. Chatelet, Patricia Goggin, Ka Ying Bonnie Ng, Jane S. Lucas, Jane K. Cleal, Ying C. Cheong & Rohan M. Lewis, 2024, Reproduction, 167(1)

DOI: 10.1530/REP-23-0173

Type: article