Publications

Browse our publications catalogue to learn about our research.

Associations of cord plasma per- and polyfluoroakyl substances (PFAS) with neonatal and child body composition and adiposity: the GUSTO study

Ling-Wei Chen, Sharon Ng, Mya-Thway Tint, Navin Michael, Suresh Anand Sadananthan, Yi Ying Ong, Wen Lun Yuan, Ze-Ying Chen, Chia-Yang Chen, Keith M. Godfrey, Kok Hian Tan, Peter D. Gluckman, Yap-Seng Chong, Johan G. Eriksson, Fabian Yap, Yung Seng Lee, Marielle V. Fortier, Sendhil S. Velan & Shiao-Yng Chan, 2024, Environment International, 183

DOI: 10.1016/j.envint.2023.108340

Type: article

Cardiomyopathies in 100,000 Genomes Project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery

Katherine S. Josephs, Eleanor G. Seaby, Philippa May, Pantazis Theotokis, Jing Yu, Avgi Andreou, Hannah Sinclair, Deborah Morris-Rosendahl, Ellen R.A. Thomas, Sarah Ennis, Angharad M. Roberts & James S. Ware, 2024, Genome Medicine, 16(1)

DOI: 10.1186/s13073-024-01390-9

Type: article

Body composition and metabolism in adults with molecularly-confirmed Silver-Russell syndrome

Oluwakemi Lokulo-Sodipe, Hazel M. Inskip, Christopher D. Byrne, Jenny Child , Emma L. Wakeling, Deborah J.G. Mackay, I. Karen Temple & Justin H. Davies, 2024, Journal of Clinical Endocrinology & Metabolism, 109(11), e2001-e2008

DOI: 10.1210/clinem/dgae074

Type: article

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