Bonthron DT - Search Results

1

Long-read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel-Gruber syndrome.

Watson CM, Dean P, Camm N, Bates J, Carr IM, Gardiner CA, Bonthron DT. Watson CM, et al. Among authors: bonthron dt. Hum Mutat. 2020 Feb;41(2):525-531. doi: 10.1002/humu.23940. Epub 2019 Nov 11. Hum Mutat. 2020. PMID: 31663672 Free article.

2

Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertions.

Watson CM, Crinnion LA, Lindsay H, Mitchell R, Camm N, Robinson R, Joyce C, Tanteles GA, Halloran DJO, Pena SDJ, Carr IM, Bonthron DT. Watson CM, et al. Among authors: bonthron dt. Lab Invest. 2021 Apr;101(4):442-449. doi: 10.1038/s41374-020-00489-y. Epub 2020 Sep 28. Lab Invest. 2021. PMID: 32989232 Free article.

3

Genetic diagnosis of familial breast cancer using clonal sequencing.

Morgan JE, Carr IM, Sheridan E, Chu CE, Hayward B, Camm N, Lindsay HA, Mattocks CJ, Markham AF, Bonthron DT, Taylor GR. Morgan JE, et al. Among authors: bonthron dt. Hum Mutat. 2010 Apr;31(4):484-91. doi: 10.1002/humu.21216. Hum Mutat. 2010. PMID: 20127978

4

Autozygosity mapping with exome sequence data.

Carr IM, Bhaskar S, O'Sullivan J, Aldahmesh MA, Shamseldin HE, Markham AF, Bonthron DT, Black G, Alkuraya FS. Carr IM, et al. Among authors: bonthron dt. Hum Mutat. 2013 Jan;34(1):50-6. doi: 10.1002/humu.22220. Epub 2012 Oct 22. Hum Mutat. 2013. PMID: 23090942

5

Simple and efficient identification of rare recessive pathologically important sequence variants from next generation exome sequence data.

Carr IM, Morgan J, Watson C, Melnik S, Diggle CP, Logan CV, Harrison SM, Taylor GR, Pena SD, Markham AF, Alkuraya FS, Black GC, Ali M, Bonthron DT. Carr IM, et al. Among authors: bonthron dt. Hum Mutat. 2013 Jul;34(7):945-52. doi: 10.1002/humu.22322. Epub 2013 Apr 29. Hum Mutat. 2013. PMID: 23554237

6

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: bonthron dt. Hum Mutat. 2014 Apr;35(4):434-41. doi: 10.1002/humu.22490. Hum Mutat. 2014. PMID: 24307375 Free PMC article.

7

Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data.

Watson CM, Crinnion LA, Gurgel-Gianetti J, Harrison SM, Daly C, Antanavicuite A, Lascelles C, Markham AF, Pena SD, Bonthron DT, Carr IM. Watson CM, et al. Among authors: bonthron dt. Hum Mutat. 2015 Sep;36(9):823-30. doi: 10.1002/humu.22818. Epub 2015 Jul 22. Hum Mutat. 2015. PMID: 26037133 Free PMC article.

8

Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping.

Watson CM, Crinnion LA, Berry IR, Harrison SM, Lascelles C, Antanaviciute A, Charlton RS, Dobbie A, Carr IM, Bonthron DT. Watson CM, et al. Among authors: bonthron dt. BMC Med Genet. 2016 Jan 4;17:1. doi: 10.1186/s12881-015-0265-z. BMC Med Genet. 2016. PMID: 26729329 Free PMC article.

9

Cas9-based enrichment and single-molecule sequencing for precise characterization of genomic duplications.

Watson CM, Crinnion LA, Hewitt S, Bates J, Robinson R, Carr IM, Sheridan E, Adlard J, Bonthron DT. Watson CM, et al. Among authors: bonthron dt. Lab Invest. 2020 Jan;100(1):135-146. doi: 10.1038/s41374-019-0283-0. Epub 2019 Jul 4. Lab Invest. 2020. PMID: 31273287 Free PMC article.

10

Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families.

Carr IM, Flintoff KJ, Taylor GR, Markham AF, Bonthron DT. Carr IM, et al. Among authors: bonthron dt. Hum Mutat. 2006 Oct;27(10):1041-6. doi: 10.1002/humu.20383. Hum Mutat. 2006. PMID: 16941472

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