Seaby EG - 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. Among authors: seaby eg. 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

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: seaby eg. Nephrol Dial Transplant. 2016 Jun;31(6):961-70. doi: 10.1093/ndt/gfv325. Epub 2015 Sep 7. Nephrol Dial Transplant. 2016. PMID: 26346198

3

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

Seaby EG, Pengelly RJ, Ennis S. Seaby EG, et al. 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.

4

Progressive myoclonic epilepsy with Fanconi syndrome.

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

5

Commercial chicken breeds exhibit highly divergent patterns of linkage disequilibrium.

Pengelly RJ, Gheyas AA, Kuo R, Mossotto E, Seaby EG, Burt DW, Ennis S, Collins A. Pengelly RJ, et al. Among authors: seaby eg. Heredity (Edinb). 2016 Nov;117(5):375-382. doi: 10.1038/hdy.2016.47. Epub 2016 Jul 6. Heredity (Edinb). 2016. PMID: 27381324 Free PMC article.

6

Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Pengelly RJ, Arias L, Martínez J, Upstill-Goddard R, Seaby EG, Gibson J, Ennis S, Collins A, Briceño I. Pengelly RJ, et al. Among authors: seaby eg. Sci Rep. 2016 Jul 26;6:30457. doi: 10.1038/srep30457. Sci Rep. 2016. PMID: 27456059 Free PMC article.

7

AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis.

Andreoletti G, Seaby EG, Dewing JM, O'Kelly I, Lachlan K, Gilbert RD, Ennis S. Andreoletti G, et al. Among authors: seaby eg. J Med Genet. 2017 Apr;54(4):269-277. doi: 10.1136/jmedgenet-2016-104100. Epub 2016 Nov 3. J Med Genet. 2017. PMID: 27811305 Free PMC article.

8

Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic Paradigm.

Seaby EG, Gilbert RD, Andreoletti G, Pengelly RJ, Mercer C, Hunt D, Ennis S. Seaby EG, et al. Front Pediatr. 2017 May 22;5:113. doi: 10.3389/fped.2017.00113. eCollection 2017. Front Pediatr. 2017. PMID: 28589114 Free PMC article.

9

Inactivation of AMMECR1 is associated with growth, bone, and heart alterations.

Moysés-Oliveira M, Giannuzzi G, Fish RJ, Rosenfeld JA, Petit F, Soares MF, Kulikowski LD, Di-Battista A, Zamariolli M, Xia F, Liehr T, Kosyakova N, Carvalheira G, Parker M, Seaby EG, Ennis S, Gilbert RD, Hagelstrom RT, Cremona ML, Li WL, Malhotra A, Chandrasekhar A, Perry DL, Taft RJ, McCarrier J, Basel DG, Andrieux J, Stumpp T, Antunes F, Pereira GJ, Neerman-Arbez M, Meloni VA, Drummond-Borg M, Melaragno MI, Reymond A. Moysés-Oliveira M, et al. Among authors: seaby eg. Hum Mutat. 2018 Feb;39(2):281-291. doi: 10.1002/humu.23373. Epub 2017 Dec 14. Hum Mutat. 2018. PMID: 29193635

10

Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease.

Gast C, Marinaki A, Arenas-Hernandez M, Campbell S, Seaby EG, Pengelly RJ, Gale DP, Connor TM, Bunyan DJ, Hodaňová K, Živná M, Kmoch S, Ennis S, Venkat-Raman G. Gast C, et al. Among authors: seaby eg. BMC Nephrol. 2018 Oct 30;19(1):301. doi: 10.1186/s12882-018-1107-y. BMC Nephrol. 2018. PMID: 30376835 Free PMC article.

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