Publications

Browse our publications catalogue to learn about our research.

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