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Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability.
Francis DI, Stark Z, Scheffer IE, Tan TY, Murali K, Gallacher L, Amor DJ, Goel H, Downie L, Stutterd CA, Krzesinski EI, Vasudevan A, Oertel R, Petrovic V, Boys A, Wei V, Burgess T, Dun K, Oliver KL, Baxter A, Hackett A, Ayres S, Lunke S, Kalitsis P, Wall M. Francis DI, et al. Among authors: boys a. Eur J Hum Genet. 2023 May;31(5):521-525. doi: 10.1038/s41431-022-01232-5. Epub 2022 Nov 29. Eur J Hum Genet. 2023. PMID: 36446895 Free PMC article.
ADGRV1 is implicated in myoclonic epilepsy.
Myers KA, Nasioulas S, Boys A, McMahon JM, Slater H, Lockhart P, Sart DD, Scheffer IE. Myers KA, et al. Among authors: boys a. Epilepsia. 2018 Feb;59(2):381-388. doi: 10.1111/epi.13980. Epub 2017 Dec 20. Epilepsia. 2018. PMID: 29266188
Characterization of speech and language phenotype in children with NRXN1 deletions.
Brignell A, St John M, Boys A, Bruce A, Dinale C, Pigdon L, Hildebrand MS, Amor DJ, Morgan AT. Brignell A, et al. Among authors: boys a. Am J Med Genet B Neuropsychiatr Genet. 2018 Dec;177(8):700-708. doi: 10.1002/ajmg.b.32664. Epub 2018 Oct 25. Am J Med Genet B Neuropsychiatr Genet. 2018. PMID: 30358070
Dorsal language stream anomalies in an inherited speech disorder.
Liégeois FJ, Turner SJ, Mayes A, Bonthrone AF, Boys A, Smith L, Parry-Fielder B, Mandelstam S, Spencer-Smith M, Bahlo M, Scerri TS, Hildebrand MS, Scheffer IE, Connelly A, Morgan AT. Liégeois FJ, et al. Among authors: boys a. Brain. 2019 Apr 1;142(4):966-977. doi: 10.1093/brain/awz018. Brain. 2019. PMID: 30796815
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: boys a. Neurology. 2020 May 19;94(20):e2148-e2167. doi: 10.1212/WNL.0000000000009441. Epub 2020 Apr 28. Neurology. 2020. PMID: 32345733
Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and Epilepsy.
Bennett MF, Hildebrand MS, Kayumi S, Corbett MA, Gupta S, Ye Z, Krivanek M, Burgess R, Henry OJ, Damiano JA, Boys A, Gécz J, Bahlo M, Scheffer IE, Berkovic SF. Bennett MF, et al. Among authors: boys a. Neurol Genet. 2022 Jan 25;8(1):e652. doi: 10.1212/NXG.0000000000000652. eCollection 2022 Feb. Neurol Genet. 2022. PMID: 35097204 Free PMC article.
53 results