Publications

Browse our publications catalogue to learn about our research.

Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder

Eleanor G. Seaby, Annie Godwin, Géraldine Meyer-Dilhet, Valentine Clerc, Xavier Grand, Tia Fletcher, Laloe Monteiro, Martijn Kerkhofs, Valerio Carelli, Flavia Palombo, Katherine Lachlan, Diana Baralle, Cyril F. Bourgeois & Sarah Ennis, 2024, Brain

DOI: 10.1093/brain/awae320

Type: article

AI-based digital pathology provides newer insights into lifestyle intervention-induced fibrosis regression in MASLD: an exploratory study

Hai-Yang Yuan, Xiao-Fei Tong, Ya-Yun Ren, Yang-Yang Li, Xin-Lei Wang, Li-Li Chen, Sui-Dan Chen, Xiao-Zhi Jin, Xiao-Dong Wang, Giovanni Targher, Christopher D. Byrne, Lai Wei, Vincent Wai-Sun Wong , Dean Tai, Arun J. Sanyal, Hong You & Ming-Hua Zheng, 2024, Liver International, 44(10), 2572-2582

DOI: 10.1111/liv.16025

Type: article

MAFLD as part of systemic metabolic dysregulation

Jing Zhao, Lu Liu, Ying-Ying Cao, Xin Gao, Giovanni Targher, Chris Byrne, Dan-Qin Sun & Ming-Hua Zheng, 2024, Hepatology International, 18(Suppl 2), 834-847

DOI: 10.1007/s12072-024-10660-y

Type: article

Tackling inequalities in preconception health and care: barriers, facilitators and recommendations for action from the 2023 UK Preconception EMCR Network conference

Danielle Schoenaker, Jennifer Hall, Catherine Stewart, Stephanie J. Hanley, Emma H Cassinelli, Madeleine Benton, Alexandra Azzari Wynn-Jones, Mehar Chawla & Sinéad Currie, 2024, Journal of the Developmental Origins of Health and Disease

DOI: 10.1101/2024.02.13.24302690

Type: article

Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach

Carolina Jaramillo Oquendo, Htoo A. Wai, Wil I. Rich, David J. Bunyan, N. Simon Thomas, David Hunt, Jenny Lord, Andrew G.L. Douglas & Diana Baralle, 2024, Genome Medicine, 16

DOI: 10.1186/s137073-024-01381w

Type: article