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

HNRNPA2B1 myopathy presenting in a family with an early onset oculopharyngeal muscular dystrophy-like phenotype

Liam S. Carroll , Sarah Ennis, Nicola Foulds & Simon R. Hammans, 2024, Neuromuscular Disorders, 34, 27-31

DOI: 10.1016/j.nmd.2023.11.002

Type: article

Reduced penetrance of gene variants causing amyotrophic lateral sclerosis

Andrew Douglas & Diana Baralle, 2023, Journal of Medical Genetics

DOI: 10.1136/jmg-2023-109580

Type: article

Exonic splicing code and coordination of divalent metals in proteins

Dara Bakhtiar, Katarina Vondraskova, Reuben J. Pengelly, Martin Chivers, Jana Kralovicova & Igor Vorechovsky, 2023, Nucleic Acids Research

DOI: 10.1093/nar/gkad1161

Type: article

Genetic and epigenetic associations with pre-chronic obstructive pulmonary disease lung function trajectories

David J. Martino, Dinh S. Bui, Shuai Li, Sabrina Idrose, Jennifer Perret, Adrian J. Lowe, Caroline J. Lodge, Gayan Bowatte, Yuben Moodley, Paul S Thomas, Graeme Zosky, Philip M. Hansbro, John W. Holloway, Cecilie Svanes, Rosa Faner, Eugene H. Walters & Shaymali C Dharmage, 2023, American Journal of Respiratory and Critical Care Medicine, 208(10), 1135-1137

DOI: 10.1164/rccm.202306-1025LE

Type: letterEditorial