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Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40.
Brain. 2023 Dec 1;146(12):5086-5097. doi: 10.1093/brain/awad314.
Brain. 2023.
PMID: 37977818
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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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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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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A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction.
Hildebrand JM, Kauppi M, Majewski IJ, Liu Z, Cox AJ, Miyake S, Petrie EJ, Silk MA, Li Z, Tanzer MC, Brumatti G, Young SN, Hall C, Garnish SE, Corbin J, Stutz MD, Di Rago L, Gangatirkar P, Josefsson EC, Rigbye K, Anderton H, Rickard JA, Tripaydonis A, Sheridan J, Scerri TS, Jackson VE, Czabotar PE, Zhang JG, Varghese L, Allison CC, Pellegrini M, Tannahill GM, Hatchell EC, Willson TA, Stockwell D, de Graaf CA, Collinge J, Hilton A, Silke N, Spall SK, Chau D, Athanasopoulos V, Metcalf D, Laxer RM, Bassuk AG, Darbro BW, Fiatarone Singh MA, Vlahovich N, Hughes D, Kozlovskaia M, Ascher DB, Warnatz K, Venhoff N, Thiel J, Biben C, Blum S, Reveille J, Hildebrand MS, Vinuesa CG, McCombe P, Brown MA, Kile BT, McLean C, Bahlo M, Masters SL, Nakano H, Ferguson PJ, Murphy JM, Alexander WS, Silke J.
Hildebrand JM, et al.
Nat Commun. 2020 Jun 19;11(1):3150. doi: 10.1038/s41467-020-16819-z.
Nat Commun. 2020.
PMID: 32561755
Free PMC article.
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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.
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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