Publications

Browse our publications catalogue to learn about our research.

Epidemiology of Robin sequence: geographical variation in the UK/Ireland

Giles Atton & Diana Baralle, 2024, Archives of Disease in Childhood, 109(3), 177-178

DOI: 10.1136/archdischild-2023-326079

Type: letterEditorial

A case of mosaic deletion of paternally‐inherited PLAGL1 and two cases of upd(6)mat add to evidence for PLAGL1 under‐expression as a cause of growth restriction

Ahmed S.N. Alhendi, Gabriella Gazdagh, Derek Lim, Dominic McMullan, Michael Wright, I. Karen Temple, Justin H. Davies & Deborah J.G. Mackay, 2024, American Journal of Medical Genetics part A, 194(2), 383-388

DOI: 10.1002/ajmg.a.63448

Type: article

A Pregnancy and Childhood Epigenetics Consortium (PACE) meta-analysis highlights potential relationships between birth order and neonatal blood DNA methylation

Shaobo Li, Natalia Spitz, Akram Ghantous, Negusse Kitaba, Faisal I. Rezwan, S. Hasan Arshad & John W. Holloway, 2024, Communications Biology, 7(1)

DOI: 10.1038/s42003-023-05698-x

Type: article

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