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A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction.
Nat Commun. 2020 Jun 19;11(1):3150. doi: 10.1038/s41467-020-16819-z.
Nat Commun. 2020.
PMID: 32561755
Free PMC article.
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.
Khan K, Zech M, Morgan AT, Amor DJ, Skorvanek M, Khan TN, Hildebrand MS, Jackson VE, Scerri TS, Coleman M, Rigbye KA, Scheffer IE, Bahlo M, Wagner M, Lam DD, Berutti R, Havránková P, Fečíková A, Strom TM, Han V, Dosekova P, Gdovinova Z, Laccone F, Jameel M, Mooney MR, Baig SM, Jech R, Davis EE, Katsanis N, Winkelmann J.
Khan K, et al. Among authors: rigbye ka.
Genet Med. 2019 Nov;21(11):2532-2542. doi: 10.1038/s41436-019-0523-0. Epub 2019 Apr 30.
Genet Med. 2019.
PMID: 31036918
Free PMC article.
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Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation.
Hildebrand MS, Jackson VE, Scerri TS, Van Reyk O, Coleman M, Braden RO, Turner S, Rigbye KA, Boys A, Barton S, Webster R, Fahey M, Saunders K, Parry-Fielder B, Paxton G, Hayman M, Coman D, Goel H, Baxter A, Ma A, Davis N, Reilly S, Delatycki M, Liégeois FJ, Connelly A, Gecz J, Fisher SE, Amor DJ, Scheffer IE, Bahlo M, Morgan AT.
Hildebrand MS, et al. Among authors: rigbye ka.
Neurology. 2020 May 19;94(20):e2148-e2167. doi: 10.1212/WNL.0000000000009441. Epub 2020 Apr 28.
Neurology. 2020.
PMID: 32345733
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Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40.
Morgan AT, Scerri TS, Vogel AP, Reid CA, Quach M, Jackson VE, McKenzie C, Burrows EL, Bennett MF, Turner SJ, Reilly S, Horton SE, Block S, Kefalianos E, Frigerio-Domingues C, Sainz E, Rigbye KA, Featherby TJ, Richards KL, Kueh A, Herold MJ, Corbett MA, Gecz J, Helbig I, Thompson-Lake DGY, Liégeois FJ, Morell RJ, Hung A, Drayna D, Scheffer IE, Wright DK, Bahlo M, Hildebrand MS.
Morgan AT, et al. Among authors: rigbye ka.
Brain. 2023 Dec 1;146(12):5086-5097. doi: 10.1093/brain/awad314.
Brain. 2023.
PMID: 37977818
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Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?
Rigbye KA, van Hasselt PM, Burgess R, Damiano JA, Mullen SA, Petrovski S, Puranam RS, van Gassen KL, Gecz J, Scheffer IE, McNamara JO, Berkovic SF, Hildebrand MS.
Rigbye KA, et al.
Epilepsy Res. 2016 Dec;128:48-51. doi: 10.1016/j.eplepsyres.2016.10.008. Epub 2016 Oct 25.
Epilepsy Res. 2016.
PMID: 27810516
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Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A).
Kaur S, Van Bergen NJ, Ben-Zeev B, Leonardi E, Tan TY, Coman D, Kamien B, White SM, St John M, Phelan D, Rigbye K, Lim SC, Torres MC, Marty M, Savva E, Zhao T, Massey S, Murgia A, Gold WA, Christodoulou J.
Kaur S, et al. Among authors: rigbye k.
J Genet Genomics. 2020 Oct 20;47(10):650-654. doi: 10.1016/j.jgg.2020.09.003. Epub 2020 Nov 4.
J Genet Genomics. 2020.
PMID: 33386251
No abstract available.
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