Підписатись
Andy Rimmer
Andy Rimmer
Wellcome Trues Centre For Human Genetics, Oxford
Підтверджена електронна адреса в well.ox.ac.uk
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An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56, 2012
82492012
Integrating mapping-, assembly-and haplotype-based approaches for calling variants in clinical sequencing applications
A Rimmer, H Phan, I Mathieson, Z Iqbal, SRF Twigg, WGS500 Consortium, ...
Nature genetics 46 (8), 912-918, 2014
10892014
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
10762012
Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel
O Delaneau, J Marchini
Nature communications 5 (1), 3934, 2014
4342014
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
4012015
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
3112012
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
2752014
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
2752013
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
2722013
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), 3756, 2014
1662014
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
1522012
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
1092012
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
932013
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
842012
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
832018
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
792013
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
772014
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
502013
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
482019
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
442017
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