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

Scientific Publications

 • 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

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

bioRxiv. 2018, https://doi.org/10.1101/426163

 

• 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

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

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

 

• 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

Deep phenotyping of a healthy human HAO1 knockout informs therapeutic development for primary hyperoxaluria type 1.

bioRxiv. 2019, https://doi.org/10.1101/524256

 

• 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

­­­Recall by Genotype: Formalising an efficient approach to detailed phenotyping and causal inference.

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

 

• 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.

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

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

 

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

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

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