Charlton R - Search Results

1

Characterization and Genomic Localization of a SMAD4 Processed Pseudogene.

Watson CM, Camm N, Crinnion LA, Antanaviciute A, Adlard J, Markham AF, Carr IM, Charlton R, Bonthron DT. Watson CM, et al. Among authors: charlton r. J Mol Diagn. 2017 Nov;19(6):933-940. doi: 10.1016/j.jmoldx.2017.08.002. Epub 2017 Sep 1. J Mol Diagn. 2017. PMID: 28867604 Free article.

2

Increased Sensitivity of Diagnostic Mutation Detection by Re-analysis Incorporating Local Reassembly of Sequence Reads.

Watson CM, Camm N, Crinnion LA, Clokie S, Robinson RL, Adlard J, Charlton R, Markham AF, Carr IM, Bonthron DT. Watson CM, et al. Among authors: charlton r. Mol Diagn Ther. 2017 Dec;21(6):685-692. doi: 10.1007/s40291-017-0304-x. Mol Diagn Ther. 2017. PMID: 28986857 Free article.

3

GeneScreen: a program for high-throughput mutation detection in DNA sequence electropherograms.

Carr IM, Camm N, Taylor GR, Charlton R, Ellard S, Sheridan EG, Markham AF, Bonthron DT. Carr IM, et al. Among authors: charlton r. J Med Genet. 2011 Feb;48(2):123-30. doi: 10.1136/jmg.2010.082081. Epub 2010 Oct 30. J Med Genet. 2011. PMID: 21037276

4

Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.

Watson CM, Crinnion LA, Morgan JE, Harrison SM, Diggle CP, Adlard J, Lindsay HA, Camm N, Charlton R, Sheridan E, Bonthron DT, Taylor GR, Carr IM. Watson CM, et al. Among authors: charlton r. Hum Mutat. 2014 Apr;35(4):434-41. doi: 10.1002/humu.22490. Hum Mutat. 2014. PMID: 24307375 Free PMC article.

5

Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.

Watson CM, El-Asrag M, Parry DA, Morgan JE, Logan CV, Carr IM, Sheridan E, Charlton R, Johnson CA, Taylor G, Toomes C, McKibbin M, Inglehearn CF, Ali M. Watson CM, et al. Among authors: charlton r. PLoS One. 2014 Aug 18;9(8):e104281. doi: 10.1371/journal.pone.0104281. eCollection 2014. PLoS One. 2014. PMID: 25133751 Free PMC article.

6

Histopathology of melanocytic lesions in a family with an inherited BAP1 mutation.

O'Shea SJ, Mitra A, Graham JL, Charlton R, Adlard J, Merchant W, Newton-Bishop JA. O'Shea SJ, et al. Among authors: charlton r. J Cutan Pathol. 2016 Mar;43(3):287-9. doi: 10.1111/cup.12625. Epub 2015 Oct 12. J Cutan Pathol. 2016. PMID: 26458093 Free PMC article. No abstract available.

7

PMS2 mutations in childhood cancer.

De Vos M, Hayward BE, Charlton R, Taylor GR, Glaser AW, Picton S, Cole TR, Maher ER, McKeown CM, Mann JR, Yates JR, Baralle D, Rankin J, Bonthron DT, Sheridan E. De Vos M, et al. Among authors: charlton r. J Natl Cancer Inst. 2006 Mar 1;98(5):358-61. doi: 10.1093/jnci/djj073. J Natl Cancer Inst. 2006. PMID: 16507833

8

Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho-dento-osseous syndrome.

Whitehouse LLE, Smith CEL, Poulter JA, Brown CJ, Patel A, Lamb T, Brown LR, O'Sullivan EA, Mitchell RE, Berry IR, Charlton R, Inglehearn CF, Mighell AJ. Whitehouse LLE, et al. Among authors: charlton r. Oral Dis. 2019 Jan;25(1):182-191. doi: 10.1111/odi.12955. Epub 2018 Sep 9. Oral Dis. 2019. PMID: 30095208 Free PMC article.

9

Half of germline pathogenic and likely pathogenic variants found on panel tests do not fulfil NHS testing criteria.

Andoni T, Wiggins J, Robinson R, Charlton R, Sandberg M, Eeles R. Andoni T, et al. Among authors: charlton r. Sci Rep. 2022 Feb 21;12(1):2507. doi: 10.1038/s41598-022-06376-4. Sci Rep. 2022. PMID: 35190596 Free PMC article.

10

Gene symbol: BRCA1.

Taylor GR, Bibi S, Charlton RF. Taylor GR, et al. Among authors: charlton rf. Hum Genet. 2007 Feb;120(6):910. Hum Genet. 2007. PMID: 17438603 No abstract available.

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