Publications

Browse our publications catalogue to learn about our research.

The paediatric Crohn’s disease morbidity index (PCD-MI); development of a tool to assess long-term disease burden using a data driven approach

James Ashton, Abhilasha Gurung, Cai Davis, Eleanor Seaby, Tracy Coelho, Akshay Batra, Nadeem A. Afzal, Sarah Ennis & R. Mark Beattie, 2023, Journal of Pediatric Gastroenterology & Nutrition

Type: article

A palindrome-like structure on 16p13.3 is associated with the formation of complex structural variations and SRRM3 haploinsufficiency

Alistair T. Pagnamenta, Yu Jing, Tracey A. Willis, Mona Hashim, Eleanor Grace Seaby, Susan Walker, Katrina Xian, Emily W.Y. Cheng, Ana Lisa Taylor Tavares, Francesca Forzano, Helen Cox, Angela F Brady, Tabib Dabir, Neeti Ghali, Santosh S. Antanur, Sarah Ennis, Diana Baralle & Jenny C. Taylor, 2023, Human Mutation, 2023

DOI: 10.1155/2023/6633248

Type: article

Core outcome sets, developed collaboratively with patients, can improve the relevance and comparability of clinical trials

Alexander G Mathioudakis, Ekaterina Khaleva, Markus Fally, Paula R Williamson, Jens-Ulrik Jensen, Tim W. Felton, Chris Brightling, Andrew Bush, Tonya Winders, John Linnell, Valeria Ramiconi, Courtney Coleman, Tobias Welte, Graham Roberts & Jørgen Vestbo, 2023, The European respiratory journal, 61(4)

DOI: 10.1183/13993003.02107-2022

Type: article

Regulation of human trophoblast gene expression by endogenous retroviruses

Jennifer M Frost, Samuele M Amante, Hiroaki Okae, Eleri M Jones, Brogan Ashley, Rohan M Lewis, Jane K Cleal, Matthew P Caley, Takahiro Arima, Tania Maffucci & Miguel R Branco, 2023, Nature structural & molecular biology, 30(4), 527–538

DOI: 10.1038/s41594-023-00960-6

Type: article

Pathogenic TRIO variants associated with neurodevelopmental disorders perturb the molecular regulation of TRIO and axon pathfinding in vivo

Maxime Bonnet, Fiona Roche, Christine Fagotto-Kaufmann, Gabriella Gazdagh, Iona Truong, Franck Comunale, Sonia Barbosa, Marion Bonhomme, Nicholas Nafati, David Hunt, Monserrat Pons Rodriguez, Ayeshah Chaudhry, Deborah Shears, Marcos Madruga, Fleur Vansenne, Aurore Curie, Andry V Kajava, Diana Baralle, Coralie Fassier, Anne Debant & Susanne Schmidt, 2023, Molecular Psychiatry, 28(4), 1527-1544

DOI: 10.1038/s41380-023-01963-x

Type: article