Camm N - 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: camm n. 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

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: camm n. Hum Mutat. 2010 Apr;31(4):484-91. doi: 10.1002/humu.21216. Hum Mutat. 2010. PMID: 20127978

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

5

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: camm n. 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.

6

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: camm n. Mol Diagn Ther. 2017 Dec;21(6):685-692. doi: 10.1007/s40291-017-0304-x. Mol Diagn Ther. 2017. PMID: 28986857 Free article.

7

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: camm n. 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.

8

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: camm n. 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

9

[No title available]

[No authors listed] [No authors listed] PMID: 36781261

10

Whole Exon Deletion in the GFAP Gene Is a Novel Molecular Mechanism Causing Alexander Disease.

Green L, Berry IR, Childs AM, McCullagh H, Jose S, Warren D, Craven I, Camm N, Prescott K, van der Knaap MS, Sheridan E, Livingston JH. Green L, et al. Among authors: camm n. Neuropediatrics. 2018 Apr;49(2):118-122. doi: 10.1055/s-0037-1608921. Epub 2017 Dec 18. Neuropediatrics. 2018. PMID: 29253910

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