Publications

Browse our publications catalogue to learn about our research.

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project

Alistair T. Pagnamenta, Jing Yu, Susan Walker, Alexandra J. Noble, Jenny Lord, Prasun Dutta, Mona Hashim, Carme Camps, Hannah Green, Smrithi Devaiah, Lina Nashef, Jason Parr, Carl Fratter, Rana Ibnouf Hussein, Sarah J. Lindsay, Fiona Lalloo, Benito Banos-Pinero, David Evans, Lucy Mallin, Adrian Waite, Julie Evans, Andrew Newman, Zoe Alllen, Christina Perez-Becerril, Gavin Ryan, Rachel Hart, John Taylor, Tina Bedenham, Emma Clement, Ed Blair, Eleanor Hay, Francesca Forzano, Jenny Higgs, Natalie Canham, Anirban Majumdar, Meriel McEntagart, Nayana Lahiri, Helen Stewart, Sarah Smithson, Eduardo Calpena, Adam Jackson, Siddharth Banka, Hannah Titheradge, Ruth McGowan, Julia Rankin, Charles Shaw-Smith, D. Gareth Evans, George J. Burghel, Miriam J. Smith, Emily Anderson, Rajesh Madhu, Helen Firth, Sian Ellard, Paul Brennan, Claire Anderson, Doug Taupin, Mark T. Rogers, Jackie A. Cook, Miranda Durkie, James E. East, Darren Fowler, Louise Wilson, Rebecca Igbokwe, Alice Gardham, Ian Tomlinson, Diana Baralle, Holm H. Uhlig & Jenny C. Taylor, 2024, The American Journal of Human Genetics, 111(6), 1140-1164

DOI: 10.1016/j.ajhg.2024.04.018

Type: article

UK neonatal stoma practice: a population study

Graciaa Singhal, Rema Ramakrishnan, Raph Goldacre, Cheryl Battersby, Nigel Hall, Chris Gale, Marian Knight & Nick Lansdale, 2024, Archives of Disease in Childhood

Type: article

Surgery and minimally invasive treatments for uterine fibroids

Monica Krishnan, Brenda Narice, Ying C. Cheong, M.A. Lumsden, Jane P. Daniels, Martha Hickey, Janesh K. Gupta & Mostafa Metwally, 2024, Cochrane Database of Systematic Reviews, 2024(6)

DOI: 10.1002/14651858.CD015650

Type: article

Outcome measures and predictors of response to biological treatments for severe asthma

2024

Type: thesis

Potential role of fibrosis-4 score in hepatocellular carcinoma screening: the Kangbuk Samsung Health Study

Sujeong Shin, Won Sohn, Yoosoo Chang, Yoosun Cho, Min-Jung Kwon, Sarah H. Wild, Christopher D. Byrne & Seungho Ryu, 2024, Hepatology Research, 54(6), 551-561

DOI: 10.1111/hepr.13999

Type: article