Pengelly RJ - Search Results

1

Heterogeneity in the extent of linkage disequilibrium among exonic, intronic, non-coding RNA and intergenic chromosome regions.

Vergara-Lope A, Ennis S, Vorechovsky I, Pengelly RJ, Collins A. Vergara-Lope A, et al. Among authors: pengelly rj. Eur J Hum Genet. 2019 Sep;27(9):1436-1444. doi: 10.1038/s41431-019-0419-0. Epub 2019 May 3. Eur J Hum Genet. 2019. PMID: 31053778 Free PMC article.

2

A SNP profiling panel for sample tracking in whole-exome sequencing studies.

Pengelly RJ, Gibson J, Andreoletti G, Collins A, Mattocks CJ, Ennis S. Pengelly RJ, et al. Genome Med. 2013 Sep 27;5(9):89. doi: 10.1186/gm492. eCollection 2013. Genome Med. 2013. PMID: 24070238 Free PMC article.

3

Exome sequence read depth methods for identifying copy number changes.

Kadalayil L, Rafiq S, Rose-Zerilli MJ, Pengelly RJ, Parker H, Oscier D, Strefford JC, Tapper WJ, Gibson J, Ennis S, Collins A. Kadalayil L, et al. Among authors: pengelly rj. Brief Bioinform. 2015 May;16(3):380-92. doi: 10.1093/bib/bbu027. Epub 2014 Aug 28. Brief Bioinform. 2015. PMID: 25169955 Review.

4

Immuno-genomic profiling of patients with inflammatory bowel disease: a systematic review of genetic and functional in vivo studies of implicated genes.

Coelho T, Andreoletti G, Ashton JJ, Pengelly RJ, Gao Y, RamaKrishnan A, Batra A, Beattie RM, Williams AP, Ennis S. Coelho T, et al. Among authors: pengelly rj. Inflamm Bowel Dis. 2014 Oct;20(10):1813-9. doi: 10.1097/MIB.0000000000000174. Inflamm Bowel Dis. 2014. PMID: 25171511 Review.

5

Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole-exome sequencing.

Pengelly RJ, Upstill-Goddard R, Arias L, Martinez J, Gibson J, Knut M, Collins AL, Ennis S, Collins A, Briceno I. Pengelly RJ, et al. Clin Genet. 2015 Nov;88(5):441-9. doi: 10.1111/cge.12547. Epub 2015 Jan 6. Clin Genet. 2015. PMID: 25441681

6

Erratum to: a SNP profiling panel for sample tracking in whole-exome sequencing studies.

Pengelly RJ, Gibson J, Andreoletti G, Collins A, Mattocks CJ, Ennis S. Pengelly RJ, et al. Genome Med. 2015 May 7;7(1):44. doi: 10.1186/s13073-015-0163-1. eCollection 2015. Genome Med. 2015. PMID: 25949530 Free PMC article.

7

Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Caused by a Novel R782G Mutation in CSF1R.

Foulds N, Pengelly RJ, Hammans SR, Nicoll JA, Ellison DW, Ditchfield A, Beck S, Ennis S. Foulds N, et al. Among authors: pengelly rj. Sci Rep. 2015 May 15;5:10042. doi: 10.1038/srep10042. Sci Rep. 2015. PMID: 25975230 Free PMC article.

8

Whole genome sequences are required to fully resolve the linkage disequilibrium structure of human populations.

Pengelly RJ, Tapper W, Gibson J, Knut M, Tearle R, Collins A, Ennis S. Pengelly RJ, et al. BMC Genomics. 2015 Sep 3;16(1):666. doi: 10.1186/s12864-015-1854-0. BMC Genomics. 2015. PMID: 26335686 Free PMC article.

9

Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis.

Gast C, Pengelly RJ, Lyon M, Bunyan DJ, Seaby EG, Graham N, Venkat-Raman G, Ennis S. Gast C, et al. Among authors: pengelly rj. Nephrol Dial Transplant. 2016 Jun;31(6):961-70. doi: 10.1093/ndt/gfv325. Epub 2015 Sep 7. Nephrol Dial Transplant. 2016. PMID: 26346198

10

Exome sequencing explained: a practical guide to its clinical application.

Seaby EG, Pengelly RJ, Ennis S. Seaby EG, et al. Among authors: pengelly rj. Brief Funct Genomics. 2016 Sep;15(5):374-84. doi: 10.1093/bfgp/elv054. Epub 2015 Dec 9. Brief Funct Genomics. 2016. PMID: 26654982 Review.

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