Bonthron DT - Search Results

1

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.

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

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

4

Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome.

Watson CM, Crinnion LA, Tzika A, Mills A, Coates A, Pendlebury M, Hewitt S, Harrison SM, Daly C, Roberts P, Carr IM, Sheridan EG, Bonthron DT. Watson CM, et al. Among authors: bonthron dt. Am J Med Genet A. 2014 Oct;164A(10):2649-55. doi: 10.1002/ajmg.a.36679. Epub 2014 Jul 16. Am J Med Genet A. 2014. PMID: 25045150 Free article.

5

Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia.

Watson CM, Crinnion LA, Murphy H, Newbould M, Harrison SM, Lascelles C, Antanaviciute A, Carr IM, Sheridan E, Bonthron DT, Smith A. Watson CM, et al. Among authors: bonthron dt. J Med Genet. 2016 Apr;53(4):264-9. doi: 10.1136/jmedgenet-2015-103620. Epub 2016 Jan 5. J Med Genet. 2016. PMID: 26733463 Free PMC article.

6

A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome.

Watson CM, Crinnion LA, Harrison SM, Lascelles C, Antanaviciute A, Carr IM, Bonthron DT, Sheridan E. Watson CM, et al. Among authors: bonthron dt. PLoS One. 2016 Jun 7;11(6):e0157075. doi: 10.1371/journal.pone.0157075. eCollection 2016. PLoS One. 2016. PMID: 27272187 Free PMC article.

7

An alternative to array-based diagnostics: a prospectively recruited cohort, comparing arrayCGH to next-generation sequencing to evaluate foetal structural abnormalities.

Walker L, Watson CM, Hewitt S, Crinnion LA, Bonthron DT, Cohen KE. Walker L, et al. Among authors: bonthron dt. J Obstet Gynaecol. 2019 Apr;39(3):328-334. doi: 10.1080/01443615.2018.1522529. Epub 2019 Feb 3. J Obstet Gynaecol. 2019. PMID: 30714504 Free article.

8

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.

9

Long-read nanopore sequencing enables accurate confirmation of a recurrent PMS2 insertion-deletion variant located in a region of complex genomic architecture.

Watson CM, Crinnion LA, Simmonds J, Camm N, Adlard J, Bonthron DT. Watson CM, et al. Among authors: bonthron dt. Cancer Genet. 2021 Aug;256-257:122-126. doi: 10.1016/j.cancergen.2021.05.012. Epub 2021 May 28. Cancer Genet. 2021. PMID: 34116445

10

Long-read sequencing to resolve the parent of origin of a de novo pathogenic UBE3A variant.

Watson CM, Jackson L, Crinnion LA, Bonthron DT, Sheridan E. Watson CM, et al. Among authors: bonthron dt. J Med Genet. 2022 Nov;59(11):1082-1086. doi: 10.1136/jmedgenet-2021-108314. Epub 2022 Apr 12. J Med Genet. 2022. PMID: 35414530

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