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De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder.
Janssen BDE, van den Boogaard MH, Lichtenbelt K, Seaby EG, Stals K, Ellard S, Newbury-Ecob R, Dixit A, Roht L, Pajusalu S, Õunap K, Firth HV, Buckley M, Wilson M, Roscioli T, Tidwell T, Mao R, Ennis S, Holwerda SJ, van Gassen K, van Jaarsveld RH. Janssen BDE, et al. Among authors: seaby eg. Hum Mutat. 2022 Dec;43(12):1844-1851. doi: 10.1002/humu.24444. Epub 2022 Aug 10. Hum Mutat. 2022. PMID: 35904126 Free PMC article.
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.
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
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.
Beck DB, Petracovici A, He C, Moore HW, Louie RJ, Ansar M, Douzgou S, Sithambaram S, Cottrell T, Santos-Cortez RLP, Prijoles EJ, Bend R, Keren B, Mignot C, Nougues MC, Õunap K, Reimand T, Pajusalu S, Zahid M, Saqib MAN, Buratti J, Seaby EG, McWalter K, Telegrafi A, Baldridge D, Shinawi M, Leal SM, Schaefer GB, Stevenson RE, Banka S, Bonasio R, Fahrner JA. Beck DB, et al. Among authors: seaby eg. Am J Hum Genet. 2020 Feb 6;106(2):234-245. doi: 10.1016/j.ajhg.2019.12.007. Epub 2020 Jan 9. Am J Hum Genet. 2020. PMID: 31928709 Free PMC article.
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.
Wai HA, Lord J, Lyon M, Gunning A, Kelly H, Cibin P, Seaby EG, Spiers-Fitzgerald K, Lye J, Ellard S, Thomas NS, Bunyan DJ, Douglas AGL, Baralle D; Splicing and disease working group. Wai HA, et al. Among authors: seaby eg. Genet Med. 2020 Jun;22(6):1005-1014. doi: 10.1038/s41436-020-0766-9. Epub 2020 Mar 3. Genet Med. 2020. PMID: 32123317 Free PMC article.
60 results