Laver TW - Search Results

1

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

Wright CF, West B, Tuke M, Jones SE, Patel K, Laver TW, Beaumont RN, Tyrrell J, Wood AR, Frayling TM, Hattersley AT, Weedon MN. Wright CF, et al. Among authors: laver tw. Am J Hum Genet. 2019 Feb 7;104(2):275-286. doi: 10.1016/j.ajhg.2018.12.015. Epub 2019 Jan 18. Am J Hum Genet. 2019. PMID: 30665703 Free PMC article.

2

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.

3

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.

4

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.

5

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.

6

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.

7

PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy.

Laver TW, Patel KA, Colclough K, Curran J, Dale J, Davis N, Savage DB, Flanagan SE, Ellard S, Hattersley AT, Weedon MN. Laver TW, et al. J Clin Endocrinol Metab. 2018 Sep 1;103(9):3225-3230. doi: 10.1210/jc.2017-02662. J Clin Endocrinol Metab. 2018. PMID: 30020498 Free PMC article.

8

Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease.

Wakeling MN, Laver TW, Wright CF, De Franco E, Stals KL, Patch AM, Hattersley AT, Flanagan SE, Ellard S; DDD Study. Wakeling MN, et al. Among authors: laver tw. Genet Med. 2019 Apr;21(4):982-986. doi: 10.1038/s41436-018-0281-4. Epub 2018 Oct 3. Genet Med. 2019. PMID: 30279471 Free PMC article.

9

Correction: Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease.

Wakeling MN, Laver TW, Wright CF, De Franco E, Stals KL, Patch AM, Hattersley AT, Flanagan SE, Ellard S; DDD Study. Wakeling MN, et al. Among authors: laver tw. Genet Med. 2019 Mar;21(3):766. doi: 10.1038/s41436-018-0357-1. Genet Med. 2019. PMID: 30446706 Free PMC article.

10

Noninvasive Fetal Genotyping by Droplet Digital PCR to Identify Maternally Inherited Monogenic Diabetes Variants.

Caswell RC, Snowsill T, Houghton JAL, Chakera AJ, Shepherd MH, Laver TW, Knight BA, Wright D, Hattersley AT, Ellard S. Caswell RC, et al. Among authors: laver tw. Clin Chem. 2020 Jul 1;66(7):958-965. doi: 10.1093/clinchem/hvaa104. Clin Chem. 2020. PMID: 32533152 Free PMC article.

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