Bonthron DT - Search Results

1

GeneTIER: prioritization of candidate disease genes using tissue-specific gene expression profiles.

Antanaviciute A, Daly C, Crinnion LA, Markham AF, Watson CM, Bonthron DT, Carr IM. Antanaviciute A, et al. Among authors: bonthron dt. Bioinformatics. 2015 Aug 15;31(16):2728-35. doi: 10.1093/bioinformatics/btv196. Epub 2015 Apr 9. Bioinformatics. 2015. PMID: 25861967 Free PMC article.

2

OVA: integrating molecular and physical phenotype data from multiple biomedical domain ontologies with variant filtering for enhanced variant prioritization.

Antanaviciute A, Watson CM, Harrison SM, Lascelles C, Crinnion L, Markham AF, Bonthron DT, Carr IM. Antanaviciute A, et al. Among authors: bonthron dt. Bioinformatics. 2015 Dec 1;31(23):3822-9. doi: 10.1093/bioinformatics/btv473. Epub 2015 Aug 12. Bioinformatics. 2015. PMID: 26272982 Free PMC article.

3

Inferring relative proportions of DNA variants from sequencing electropherograms.

Carr IM, Robinson JI, Dimitriou R, Markham AF, Morgan AW, Bonthron DT. Carr IM, et al. Among authors: bonthron dt. Bioinformatics. 2009 Dec 15;25(24):3244-50. doi: 10.1093/bioinformatics/btp583. Epub 2009 Oct 9. Bioinformatics. 2009. PMID: 19819885

4

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.

5

Shadow autozygosity mapping by linkage exclusion (SAMPLE): a simple strategy to identify the genetic basis of lethal autosomal recessive disorders.

Carr IM, Szymanska K, Sheridan E, Markham AF, Bonthron DT, Johnson CA. Carr IM, et al. Among authors: bonthron dt. Hum Mutat. 2009 Dec;30(12):1642-9. doi: 10.1002/humu.21105. Hum Mutat. 2009. PMID: 19842213

6

Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy.

Diggle CP, Carr IM, Zitt E, Wusik K, Hopkin RJ, Prada CE, Calabrese O, Rittinger O, Punaro MG, Markham AF, Bonthron DT. Diggle CP, et al. Among authors: bonthron dt. Rheumatology (Oxford). 2010 Jun;49(6):1056-62. doi: 10.1093/rheumatology/keq048. Epub 2010 Mar 18. Rheumatology (Oxford). 2010. PMID: 20299379

7

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: bonthron dt. 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

8

Identification of autosomal recessive disease loci using out-bred nuclear families.

Carr IM, Diggle CP, Touqan N, Anwar R, Sheridan EG, Bonthron DT, Johnson CA, Ali M, Markham AF. Carr IM, et al. Among authors: bonthron dt. Hum Mutat. 2012 Feb;33(2):338-42. doi: 10.1002/humu.21645. Epub 2011 Nov 28. Hum Mutat. 2012. PMID: 22052625

9

Rapid visualisation of microarray copy number data for the detection of structural variations linked to a disease phenotype.

Carr IM, Diggle CP, Khan K, Inglehearn C, McKibbin M, Bonthron DT, Markham AF, Anwar R, Dobbie A, Pena SD, Ali M. Carr IM, et al. Among authors: bonthron dt. PLoS One. 2012;7(8):e43466. doi: 10.1371/journal.pone.0043466. Epub 2012 Aug 17. PLoS One. 2012. PMID: 22912880 Free PMC article.

10

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

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