• Queen Mary University of London
  • Barts Health NHS
  • Bradford NHS
  • Manchester Uni

Scientific Publications

Cohort Profile: East London Genes & Health (ELGH), a community based population genomics and health study in people of British-Bangladeshi and -Pakistani heritage.

 • Finer S, Martin H, Hunt KA, MacLaughlin B, Ashcroft R, Khan A, McCarthy MI, Robson J,  MacArthur DG,  Griffiths C, John Wright J, Trembath RC, van Heel DA

International Journal of Epidemiology, 2019 Feb, 49(1), 20–21i, DOI https://doi.org/10.1093/ije/dyz174

 

Evaluating potential drug targets through human loss-of-function genetic variation

• Eric Vallabh Minikel, Konrad J Karczewski, Hilary C Martin, Beryl B Cummings, Nicola Whiffin, Jessica Alfoldi, Richard C Trembath, David A van Heel, Mark J Daly, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Stuart L Schreiber, Daniel G MacArthur

bioRxiv 2019, DOI: https://doi.org/10.1101/530881

 

Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria.

• Tracy L. McGregor, Karen A. Hunt, Paul Nioi, Dan Mason, Simina Ticau, Marissa Pelosi, Perry R. Loken,  Sarah Finer, Christopher J Griffiths, Daniel G MacArthur, Richard C Trembath, Devin Oglesbee, John C. Lieske, John Wright, David V. Erbe, David A. van Heel

eLife 2020;9:e54363 DOI: 10.7554/eLife.54363

 

Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference.

• Corbin LJ, Tan VY, et al. van Heel DA, Whittaker J, Frayling T, Tobin MD, Wain LV, Smith GD, Evans DM, Karpe F, McCarthy MI, Danesh J, Franks PW, Timpson NJ

Nature Communications. 2018 Feb 19;9(1):711. https://doi.org/10.1038/s41467-018-03109-y

 

Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes.

• Narasimhan VM, Rahbari R, Scally A, Wuster A, Mason D, Xue Y, Wright J, Trembath RC, Maher ER, van Heel DA, Auton A, Hurles ME, Tyler-Smith C, Durbin R.

Nature Communications. 2017 Aug 21;8(1):303. https://doi.org/10.1038/s41467-017-00323-y

 

Health and population effects of rare gene knockouts in adult humans with related parents.

• Narasimhan VM, Hunt KA, et al., Trembath RC, MacArthur DG, Wright J, Durbin R, van Heel DA.

Science. 2016 Apr 22;352(6284):474-7. https://doi.org/10.1126/science.aac8624