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A Role for Genetic Modifiers in Tubulointerstitial Kidney Diseases.
Leggatt GP, Seaby EG, Veighey K, Gast C, Gilbert RD, Ennis S. Leggatt GP, et al. Among authors: seaby eg. Genes (Basel). 2023 Aug 3;14(8):1582. doi: 10.3390/genes14081582. Genes (Basel). 2023. PMID: 37628633 Free PMC article. Review.
Author Correction: Transcript expression-aware annotation improves rare variant interpretation.
Cummings BB, Karczewski KJ, Kosmicki JA, Seaby EG, Watts NA, Singer-Berk M, Mudge JM, Karjalainen J, Satterstrom FK, O'Donnell-Luria AH, Poterba T, Seed C, Solomonson M, Alföldi J; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Daly MJ, MacArthur DG. Cummings BB, et al. Among authors: seaby eg. Nature. 2021 Feb;590(7846):E54. doi: 10.1038/s41586-020-03175-7. Nature. 2021. PMID: 33536626 Free PMC article. No abstract available.
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.
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.
60 results