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614 results

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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: evans dm. Front Neurol. 2019 May 21;10:434. doi: 10.3389/fneur.2019.00434. eCollection 2019. Front Neurol. 2019. PMID: 31164858 Free PMC article.
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: evans dm. Neurol Genet. 2016 Nov 10;2(6):e120. doi: 10.1212/NXG.0000000000000120. eCollection 2016 Dec. Neurol Genet. 2016. PMID: 27872899 Free PMC article.
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: evans dm. 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.
SETD1B-associated neurodevelopmental disorder.
Roston A, Evans D, Gill H, McKinnon M, Isidor B, Cogné B, Mwenifumbo J, van Karnebeek C, An J, Jones SJM, Farrer M, Demos M, Connolly M, Gibson WT; CAUSES Study; EPGEN Study. Roston A, et al. 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
Neurobehavioral characterization of adult-onset Alexander disease: A family study.
Lichtenstein ML, Dwosh E, Roy Chowdhury A, Farrer MJ, McKenzie MB, Guella I, Evans DM, Nygaard HB, Shewchuk JR, Hayden S, Barton JJS, Feldman HH. Lichtenstein ML, et al. Among authors: evans dm. Neurol Clin Pract. 2017 Oct;7(5):425-429. doi: 10.1212/CPJ.0000000000000356. Neurol Clin Pract. 2017. PMID: 29620072 Free PMC article. No abstract available.
Whole-Exome Sequencing of an Exceptional Longevity Cohort.
Nygaard HB, Erson-Omay EZ, Wu X, Kent BA, Bernales CQ, Evans DM, Farrer MJ, Vilariño-Güell C, Strittmatter SM. Nygaard HB, et al. Among authors: evans dm. J Gerontol A Biol Sci Med Sci. 2019 Aug 16;74(9):1386-1390. doi: 10.1093/gerona/gly098. J Gerontol A Biol Sci Med Sci. 2019. PMID: 29750252 Free PMC article.
α-synuclein genetic variability: A biomarker for dementia in Parkinson disease.
Guella I, Evans DM, Szu-Tu C, Nosova E, Bortnick SF; SNCA Cognition Study Group; Goldman JG, Dalrymple-Alford JC, Geurtsen GJ, Litvan I, Ross OA, Middleton LT, Parkkinen L, Farrer MJ. Guella I, et al. Among authors: evans dm. Ann Neurol. 2016 Jun;79(6):991-9. doi: 10.1002/ana.24664. Epub 2016 May 5. Ann Neurol. 2016. PMID: 27091628 Free article.
RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges.
Elliott AM, du Souich C, Lehman A, Guella I, Evans DM, Candido T, Tooman L, Armstrong L, Clarke L, Gibson W, Gill H, Lavoie PM, Lewis S, McKinnon ML, Nikkel SM, Patel M, Solimano A, Synnes A, Ting J, van Allen M, Christilaw J, Farrer MJ, Friedman JM, Osiovich H. Elliott AM, et al. Among authors: evans dm. Eur J Pediatr. 2019 Aug;178(8):1207-1218. doi: 10.1007/s00431-019-03399-4. Epub 2019 Jun 7. Eur J Pediatr. 2019. PMID: 31172278
614 results