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Page 1
SETD1B-associated neurodevelopmental disorder.
J Med Genet. 2021 Mar;58(3):196-204. doi: 10.1136/jmedgenet-2019-106756. Epub 2020 Jun 16.
J Med Genet. 2021.
PMID: 32546566
De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.
Guella I, McKenzie MB, Evans DM, Buerki SE, Toyota EB, Van Allen MI; Epilepsy Genomics Study; Suri M, Elmslie F; Deciphering Developmental Disorders Study; Simon MEH, van Gassen KLI, Héron D, Keren B, Nava C, Connolly MB, Demos M, Farrer MJ.
Guella I, et al. Among authors: toyota eb.
Am J Hum Genet. 2017 Aug 3;101(2):300-310. doi: 10.1016/j.ajhg.2017.07.004.
Am J Hum Genet. 2017.
PMID: 28777935
Free PMC article.
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De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy.
Guella I, Huh L, McKenzie MB, Toyota EB, Bebin EM, Thompson ML, Cooper GM, Evans DM, Buerki SE, Adam S, Van Allen MI, Nelson TN, Connolly MB, Farrer MJ, Demos M.
Guella I, et al. Among authors: toyota eb.
Neurol Genet. 2016 Nov 10;2(6):e120. doi: 10.1212/NXG.0000000000000120. eCollection 2016 Dec.
Neurol Genet. 2016.
PMID: 27872899
Free PMC article.
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Assessing an Interactive Online Tool to Support Parents' Genomic Testing Decisions.
Adam S, Birch PH, Coe RR, Bansback N, Jones AL, Connolly MB, Demos MK, Toyota EB, Farrer MJ, Friedman JM.
Adam S, et al. Among authors: toyota eb.
J Genet Couns. 2018 Jul 23. doi: 10.1007/s10897-018-0281-1. Online ahead of print.
J Genet Couns. 2018.
PMID: 30033481
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Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.
Lehman A, Thouta S, Mancini GMS, Naidu S, van Slegtenhorst M, McWalter K, Person R, Mwenifumbo J, Salvarinova R; CAUSES Study; EPGEN Study; Guella I, McKenzie MB, Datta A, Connolly MB, Kalkhoran SM, Poburko D, Friedman JM, Farrer MJ, Demos M, Desai S, Claydon T.
Lehman A, et al.
Am J Hum Genet. 2017 Jul 6;101(1):65-74. doi: 10.1016/j.ajhg.2017.05.016. Epub 2017 Jun 29.
Am J Hum Genet. 2017.
PMID: 28669405
Free PMC article.
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Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.
Demos M, Guella I, DeGuzman C, McKenzie MB, Buerki SE, Evans DM, Toyota EB, Boelman C, Huh LL, Datta A, Michoulas A, Selby K, Bjornson BH, Horvath G, Lopez-Rangel E, van Karnebeek CDM, Salvarinova R, Slade E, Eydoux P, Adam S, Van Allen MI, Nelson TN, Bolbocean C, Connolly MB, Farrer MJ.
Demos M, et al. Among authors: toyota eb.
Front Neurol. 2019 May 21;10:434. doi: 10.3389/fneur.2019.00434. eCollection 2019.
Front Neurol. 2019.
PMID: 31164858
Free PMC article.
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An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2.
Wilbur C, Buerki SE, Guella I, Toyota EB, Evans DM, McKenzie MB, Datta A, Michoulas A, Adam S, Van Allen MI, Nelson TN, Farrer MJ, Connolly MB, Demos M.
Wilbur C, et al. Among authors: toyota eb.
Pediatr Neurol. 2017 Oct;75:87-90. doi: 10.1016/j.pediatrneurol.2017.06.003. Epub 2017 Jun 8.
Pediatr Neurol. 2017.
PMID: 28811059
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