Andy Rimmer
Andy Rimmer
Wellcome Trues Centre For Human Genetics, Oxford
Verified email at
Cited by
Cited by
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56-65, 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), 912-918, 2014
Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel
O Delaneau, J Marchini
Nature communications 5 (1), 1-9, 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
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), 93-97, 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
Recessive Mutations in SPTBN2 Implicate β-III Spectrin in Both Cognitive and Motor Development
S Lise, Y Clarkson, E Perkins, A Kwasniewska, E Sadighi Akha, ...
PLoS genetics 8 (12), e1003074, 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
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
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
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
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
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), e1003219, 2013
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
Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice
AT Pagnamenta, P Heemeryck, HC Martin, C Bosc, L Peris, I Uszynski, ...
Human molecular genetics 28 (20), 3391-3405, 2019
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