|An integrated map of genetic variation from 1,092 human genomes|
1000 Genomes Project Consortium
Nature 491 (7422), 56, 2012
|Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas|
C Palles, JB Cazier, KM Howarth, E Domingo, AM Jones, P Broderick, ...
Nature Genetics, 2012
|Integrating mapping-, assembly-and haplotype-based approaches for calling variants in clinical sequencing applications|
A Rimmer, H Phan, I Mathieson, Z Iqbal, SRF Twigg, AOM Wilkie, ...
Nature genetics 46 (8), 912, 2014
|Factors influencing success of clinical genome sequencing across a broad spectrum of disorders|
JC Taylor, HC Martin, S Lise, J Broxholme, JB Cazier, A Rimmer, ...
Nature genetics 47 (7), 717-726, 2015
|Evolutionary dynamics of Staphylococcus aureus during progression from carriage to disease|
BC Young, T Golubchik, EM Batty, R Fung, H Larner-Svensson, ...
Proceedings of the National Academy of Sciences 109 (12), 4550-4555, 2012
|Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel|
O Delaneau, J Marchini, GA McVean, P Donnelly, G Lunter, JL Marchini, ...
Nature communications 5, 3934, 2014
|Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer|
E Ruark, K Snape, P Humburg, C Loveday, I Bajrami, R Brough, ...
Nature 493 (7432), 406-410, 2013
|Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis|
HC Martin, GE Kim, AT Pagnamenta, Y Murakami, GL Carvill, E Meyer, ...
Human molecular genetics 23 (12), 3200-3211, 2014
|Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3|
MA Nesbit, FM Hannan, SA Howles, AAC Reed, T Cranston, CE Thakker, ...
Nature genetics 45 (1), 93, 2013
|Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden|
JB Cazier, SR Rao, CM McLean, AK Walker, BJ Wright, EEM Jaeger, ...
Nature communications 5 (1), 1-13, 2014
|Whole-exome sequencing studies of nonhereditary (sporadic) parathyroid adenomas|
PJ Newey, MA Nesbit, AJ Rimmer, M Attar, RT Head, PT Christie, ...
The Journal of Clinical Endocrinology & Metabolism 97 (10), E1995-E2005, 2012
|B cell survival, surface BCR and BAFFR expression, CD74 metabolism, and CD8− dendritic cells require the intramembrane endopeptidase SPPL2A|
H Bergmann, M Yabas, A Short, L Miosge, N Barthel, CE Teh, CM Roots, ...
Journal of Experimental Medicine 210 (1), 31-40, 2013
|Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development|
S Lise, Y Clarkson, E Perkins, A Kwasniewska, ES Akha, ...
PLoS genetics 8 (12), 2012
|Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies|
AT Pagnamenta, S Lise, V Harrison, H Stewart, S Jayawant, ...
Journal of human genetics 57 (1), 70-72, 2012
|Consortium WGS, Wilkie AOM, McVean G, Lunter G. Integrating mapping-, assembly-and haplotype-based approaches for calling variants in clinical sequencing applications|
A Rimmer, H Phan, I Mathieson, Z Iqbal, SRF Twigg
Nat Genet 46 (8), 912-8, 2014
|Whole-Exome Sequencing Studies of Nonfunctioning Pituitary Adenomas|
PJ Newey, MA Nesbit, AJ Rimmer, RA Head, CM Gorvin, M Attar, ...
Journal of Clinical Endocrinology & Metabolism, 2013
|Unlocking the bottleneck in forward genetics using whole-genome sequencing and identity by descent to isolate causative mutations|
KR Bull, AJ Rimmer, OM Siggs, LA Miosge, CM Roots, A Enders, ...
PLoS genetics 9 (1), 2013
|NOX1 loss-of-function genetic variants in patients with inflammatory bowel disease|
T Schwerd, RV Bryant, S Pandey, M Capitani, L Meran, JB Cazier, J Jung, ...
Mucosal immunology 11 (2), 562-574, 2018
|A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability|
B Davies, LA Brown, O Cais, J Watson, AJ Clayton, VT Chang, D Biggs, ...
Human molecular genetics 26 (20), 3869-3882, 2017
|A clinical assessment of fluorescence polarisation changes in lymphocytes stimulated by phytohaemagglutinin (PHA) in malignant and benign diseases|
JAV Pritchard, WH Sutherland, JE Siddall, AJ Bater, IJ Kerby, TJ Deeley, ...
European Journal of Cancer and Clinical Oncology 18 (7), 651-659, 1982