Pengelly RJ - Search Results

1

Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly.

Pengelly RJ, Greville-Heygate S, Schmidt S, Seaby EG, Jabalameli MR, Mehta SG, Parker MJ, Goudie D, Fagotto-Kaufmann C, Mercer C; DDD Study; Debant A, Ennis S, Baralle D. Pengelly RJ, et al. J Med Genet. 2016 Nov;53(11):735-742. doi: 10.1136/jmedgenet-2016-103942. Epub 2016 Jul 14. J Med Genet. 2016. PMID: 27418539 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

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.

4

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

5

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.

6

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.

7

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.

8

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

9

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.

10

Progressive myoclonic epilepsy with Fanconi syndrome.

Seaby EG, Gilbert RD, Pengelly RJ, Andreoletti G, Clarke A, Ennis S. Seaby EG, et al. Among authors: pengelly rj. JRSM Open. 2016 Jun 6;7(6):2054270415623145. doi: 10.1177/2054270415623145. eCollection 2016 Jun. JRSM Open. 2016. PMID: 27293772 Free PMC article.

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