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

Non-coding variants are a rare cause of recessive developmental disorders in trans with coding variants

Jenny Lord, Carolina Jaramillo Oquendo, Htoo Wai, John Holloway, Alexandra C. Martin-Geary, Alexander J.M. Blakes, Elena Arciero, Silvia Domcke, Anne-Marie Childs, Karen Low, Julia Rankin, Diana Baralle, Hilary C Martin & Nicola Whiffin, 2024, Genetics in Medicine, 26(12)

DOI: 10.1016/j.gim.2024.101249

Type: article

Uplift of genetic diagnosis of rare respiratory disease using airway epithelium transcriptome analysis

Jelmer Legebeke, Gabrielle Wheway, Lee Baker, Htoo Wai, Woolf Theodore Walker, N. Simon Thomas, Janice Coles, Claire Jackson, John Holloway, Jane Lucas & Diana Baralle, 2024, Human Molecular Genetics

DOI: 10.1093/hmg/ddae164

Type: article

Infant body composition at 6 and 24 months: what are the driving factors?

Ina S. Santos, Caroline S. Costa, Andrew P. Hills, Shabina Ariff, V. Pujitha Wickramasinghe, Shane Norris, Alexia J. Murphy-Alford, Christine Slater, Nishani Lucas, Lukhanyo Nyati, Anura V. Kurpad, Kiran D. K. Ahuja, Rebecca Kuriyan, Lukhanyo Nyati, Tanvir Ahmad, Jeffrey M. Beckett, Renata M. Bielemann, Nuala M. Byrne, Laila Charania, Michele P. Christian, Priscilla J. Divya, Anne Hanley, Manoja P. Herath, Leila C. Ismail, Sisitha Jayasinghe, Pulani Lanerolle, Cornelia Loechl, Najat Moktar, Upul Senerath, Sajid Soofi, Steven J. Street, Neiva C. J. Valle & Ayesha Yameen, 2024, European Journal of Clinical Nutrition, 78(78), 928–935

DOI: 10.1038/s41430-023-01321-8

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