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Jenny C Taylor
Jenny C Taylor
Andre navneJenny Taylor, JC Taylor
Associate Professor Oxford University
Verificeret mail på well.ox.ac.uk
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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 45 (2), 136-144, 2013
10822013
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
R Walsh, KL Thomson, JS Ware, BH Funke, J Woodley, KJ McGuire, ...
Genetics in Medicine 19 (2), 192-203, 2017
6702017
Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature
K Schwarze, J Buchanan, JC Taylor, S Wordsworth
Genetics in Medicine 20 (10), 1122-1130, 2018
5302018
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
4042015
DNA polymerase ɛ and δ exonuclease domain mutations in endometrial cancer
DN Church, SEW Briggs, C Palles, E Domingo, SJ Kearsey, JM Grimes, ...
Human molecular genetics 22 (14), 2820-2828, 2013
3922013
Monitoring chronic lymphocytic leukemia progression by whole genome sequencing reveals heterogeneous clonal evolution patterns
A Schuh, J Becq, S Humphray, A Alexa, A Burns, R Clifford, SM Feller, ...
Blood, The Journal of the American Society of Hematology 120 (20), 4191-4196, 2012
3802012
Metabolic modulator perhexiline corrects energy deficiency and improves exercise capacity in symptomatic hypertrophic cardiomyopathy
K Abozguia, P Elliott, W McKenna, TT Phan, G Nallur-Shivu, I Ahmed, ...
Circulation 122 (16), 1562-1569, 2010
3632010
Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1
E Jaeger, S Leedham, A Lewis, S Segditsas, M Becker, PR Cuadrado, ...
Nature genetics 44 (6), 699-703, 2012
2902012
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
2762014
Clinical utilisation of a rapid low-pass whole genome sequencing technique for the diagnosis of aneuploidy in human embryos prior to implantation
D Wells, K Kaur, J Grifo, M Glassner, JC Taylor, E Fragouli, S Munne
Journal of medical genetics 51 (8), 553-562, 2014
2712014
SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage
R Clifford, T Louis, P Robbe, S Ackroyd, A Burns, AT Timbs, ...
Blood, The Journal of the American Society of Hematology 123 (7), 1021-1031, 2014
2592014
The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom
K Schwarze, J Buchanan, JM Fermont, H Dreau, MW Tilley, JM Taylor, ...
Genetics in Medicine 22 (1), 85-94, 2020
2132020
Sequencing of human genomes with nanopore technology
R Bowden, RW Davies, A Heger, AT Pagnamenta, M de Cesare, ...
Nature communications 10 (1), 1869, 2019
2002019
Germline selection shapes human mitochondrial DNA diversity
W Wei, S Tuna, MJ Keogh, KR Smith, TJ Aitman, PL Beales, DL Bennett, ...
Science 364 (6442), eaau6520, 2019
1842019
DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model
S Wordsworth, J Leal, E Blair, R Legood, K Thomson, A Seller, J Taylor, ...
European heart journal 31 (8), 926-935, 2010
1792010
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
1672014
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants
JJ Johnston, JJ van der Smagt, JA Rosenfeld, AT Pagnamenta, A Alswaid, ...
Genetics in Medicine 20 (10), 1175-1185, 2018
1642018
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease
ME Shanks, SM Downes, RR Copley, S Lise, J Broxholme, KAZ Hudspith, ...
European journal of human genetics 21 (3), 274-280, 2013
1482013
Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project
P Robbe, N Popitsch, SJL Knight, P Antoniou, J Becq, M He, A Kanapin, ...
Genetics in Medicine 20 (10), 1196-1205, 2018
1452018
Presence of multiple recurrent mutations confers poor trial outcome of relapsed/refractory CLL
R Guièze, P Robbe, R Clifford, S De Guibert, B Pereira, A Timbs, ...
Blood, The Journal of the American Society of Hematology 126 (18), 2110-2117, 2015
1352015
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