Laver T - Search Results

1

Assessing the performance of the Oxford Nanopore Technologies MinION.

Laver T, Harrison J, O'Neill PA, Moore K, Farbos A, Paszkiewicz K, Studholme DJ. Laver T, et al. Biomol Detect Quantif. 2015 Mar;3:1-8. doi: 10.1016/j.bdq.2015.02.001. Biomol Detect Quantif. 2015. PMID: 26753127 Free PMC article.

2

Progress in metagenomics requires a balanced appraisal of the available technologies.

Huggett JF, Studholme DJ, Laver T, Foy CA. Huggett JF, et al. Among authors: laver t. Eur J Clin Microbiol Infect Dis. 2013 Aug;32(8):1097-8. doi: 10.1007/s10096-013-1842-8. Epub 2013 Feb 23. Eur J Clin Microbiol Infect Dis. 2013. PMID: 23435754 No abstract available.

3

Assessing the accuracy of quantitative molecular microbial profiling.

O'Sullivan DM, Laver T, Temisak S, Redshaw N, Harris KA, Foy CA, Studholme DJ, Huggett JF. O'Sullivan DM, et al. Among authors: laver t. Int J Mol Sci. 2014 Nov 21;15(11):21476-91. doi: 10.3390/ijms151121476. Int J Mol Sci. 2014. PMID: 25421243 Free PMC article.

4

Pitfalls of haplotype phasing from amplicon-based long-read sequencing.

Laver TW, Caswell RC, Moore KA, Poschmann J, Johnson MB, Owens MM, Ellard S, Paszkiewicz KH, Weedon MN. Laver TW, et al. Sci Rep. 2016 Feb 17;6:21746. doi: 10.1038/srep21746. Sci Rep. 2016. PMID: 26883533 Free PMC article.

5

SavvyCNV: Genome-wide CNV calling from off-target reads.

Laver TW, De Franco E, Johnson MB, Patel KA, Ellard S, Weedon MN, Flanagan SE, Wakeling MN. Laver TW, et al. PLoS Comput Biol. 2022 Mar 16;18(3):e1009940. doi: 10.1371/journal.pcbi.1009940. eCollection 2022 Mar. PLoS Comput Biol. 2022. PMID: 35294448 Free PMC article.

6

The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes.

Laver TW, Colclough K, Shepherd M, Patel K, Houghton JA, Dusatkova P, Pruhova S, Morris AD, Palmer CN, McCarthy MI, Ellard S, Hattersley AT, Weedon MN. Laver TW, et al. Diabetes. 2016 Oct;65(10):3212-7. doi: 10.2337/db16-0628. Epub 2016 Aug 2. Diabetes. 2016. PMID: 27486234 Free PMC article.

7

A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia.

Flanagan SE, Vairo F, Johnson MB, Caswell R, Laver TW, Lango Allen H, Hussain K, Ellard S. Flanagan SE, et al. Among authors: laver tw. Pediatr Diabetes. 2017 Jun;18(4):320-323. doi: 10.1111/pedi.12512. Epub 2017 Mar 20. Pediatr Diabetes. 2017. PMID: 28318089 Free PMC article.

8

Analysis of large-scale sequencing cohorts does not support the role of variants in UCP2 as a cause of hyperinsulinaemic hypoglycaemia.

Laver TW, Weedon MN, Caswell R, Hussain K, Ellard S, Flanagan SE. Laver TW, et al. Hum Mutat. 2017 Oct;38(10):1442-1444. doi: 10.1002/humu.23289. Epub 2017 Aug 1. Hum Mutat. 2017. PMID: 28681398 Free PMC article. No abstract available.

9

Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance.

Patel KA, Kettunen J, Laakso M, Stančáková A, Laver TW, Colclough K, Johnson MB, Abramowicz M, Groop L, Miettinen PJ, Shepherd MH, Flanagan SE, Ellard S, Inagaki N, Hattersley AT, Tuomi T, Cnop M, Weedon MN. Patel KA, et al. Among authors: laver tw. Nat Commun. 2017 Oct 12;8(1):888. doi: 10.1038/s41467-017-00895-9. Nat Commun. 2017. PMID: 29026101 Free PMC article.

10

The Common HNF1A Variant I27L Is a Modifier of Age at Diabetes Diagnosis in Individuals With HNF1A-MODY.

Locke JM, Saint-Martin C, Laver TW, Patel KA, Wood AR, Sharp SA, Ellard S, Bellanné-Chantelot C, Hattersley AT, Harries LW, Weedon MN. Locke JM, et al. Among authors: laver tw. Diabetes. 2018 Sep;67(9):1903-1907. doi: 10.2337/db18-0133. Epub 2018 Jun 12. Diabetes. 2018. PMID: 29895593 Free PMC article.

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