1 August 2014 | Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.
| Flanagan, SE; Haapaniemi, E; Russell, Mark A.; et al. |
12 August 2015 | Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus
| Sansbury, Francis H.; Kirel, Birgul; Caswell, Richard; et al. |
1 October 2015 | A comparison of mitochondrial DNA isolation methods in frozen post-mortem human brain tissue--applications for studies of mitochondrial genetics in brain disorders
| Devall, Matthew; Burrage, J; Caswell, Richard; et al. |
27 November 2013 | The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype
| Hamilton, Alexander; Bingham, Coralie; McDonald, TJ; et al. |
1 September 2013 | Improved genetic testing for monogenic diabetes using targeted next-generation sequencing
| Ellard, Sian; Lango Allen, H; De Franco, E; et al. |
23 January 2014 | Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans
| Lango Allen, H; Caswell, Richard; Xie, W; et al. |
27 December 2012 | Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation
| Flanagan, SE; Xie, W; Caswell, Richard; et al. |