Publications

Browse our publications catalogue to learn about our research.

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(11), 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

Fertility-sparing treatment and follow-up in patients with cervical cancer, ovarian cancer, and borderline ovarian tumours: guidelines from ESGO, ESHRE, and ESGE

Philippe Morice, Giovanni Scambia, Nadeem R. Abu-Rustum, Maribel Acien, Alessandro Arena, Sara Brucker & Ying Cheong, 2024, Lancet Oncology, 25(11), e602-e610

DOI: 10.1016/S1470-2045(24)00262-6

Type: article

Targeted genetic sequencing analysis of 223 cases of pseudomyxoma peritonei treated by cytoreductive surgery and hyperthermic intraperitoneal chemotherapy shows survival related to GNAS and KRAS status

Jane Gibson, Reuben J. Pengelly, Amatta Mirandari, Konstantinos Boukas, Sophia Stanford, Thomas Desmond Cecil, Faheez Mohamed, Sanjeev Paul Dayal, Alexios Tzivanakis, Brendan John Moran, Alex Mirnezami, Norman John Carr & Sarah Ennis, 2024, Cancer Medicine, 13(20)

DOI: 10.1002/cam4.70340

Type: article