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Page 1
Exome Sequencing and the Management of Neurometabolic Disorders.
Tarailo-Graovac M, Shyr C, Ross CJ, Horvath GA, Salvarinova R, Ye XC, Zhang LH, Bhavsar AP, Lee JJ, Drögemöller BI, Abdelsayed M, Alfadhel M, Armstrong L, Baumgartner MR, Burda P, Connolly MB, Cameron J, Demos M, Dewan T, Dionne J, Evans AM, Friedman JM, Garber I, Lewis S, Ling J, Mandal R, Mattman A, McKinnon M, Michoulas A, Metzger D, Ogunbayo OA, Rakic B, Rozmus J, Ruben P, Sayson B, Santra S, Schultz KR, Selby K, Shekel P, Sirrs S, Skrypnyk C, Superti-Furga A, Turvey SE, Van Allen MI, Wishart D, Wu J, Wu J, Zafeiriou D, Kluijtmans L, Wevers RA, Eydoux P, Lehman AM, Vallance H, Stockler-Ipsiroglu S, Sinclair G, Wasserman WW, van Karnebeek CD. Tarailo-Graovac M, et al. Among authors: horvath ga. N Engl J Med. 2016 Jun 9;374(23):2246-55. doi: 10.1056/NEJMoa1515792. Epub 2016 May 25. N Engl J Med. 2016. PMID: 27276562 Free PMC article.
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. Front Neurol. 2019 May 21;10:434. doi: 10.3389/fneur.2019.00434. eCollection 2019. Front Neurol. 2019. PMID: 31164858 Free PMC article.
Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability Syndrome.
Horvath GA, Tarailo-Graovac M, Bartel T, Race S, Van Allen MI, Blydt-Hansen I, Ross CJ, Wasserman WW, Connolly MB, van Karnebeek CDM. Horvath GA, et al. J Child Neurol. 2018 Jan;33(1):106-113. doi: 10.1177/0883073817740443. J Child Neurol. 2018. PMID: 29246092
Atypical cerebral palsy: genomics analysis enables precision medicine.
Matthews AM, Blydt-Hansen I, Al-Jabri B, Andersen J, Tarailo-Graovac M, Price M, Selby K, Demos M, Connolly M, Drögemoller B, Shyr C, Mwenifumbo J, Elliott AM, Lee J, Ghani A, Stöckler S, Salvarinova R, Vallance H, Sinclair G, Ross CJ, Wasserman WW, McKinnon ML, Horvath GA, Goez H, van Karnebeek CD; TIDE BC, United for Metabolic Diseases and the CAUSES Study. Matthews AM, et al. Among authors: horvath ga. Genet Med. 2019 Jul;21(7):1621-1628. doi: 10.1038/s41436-018-0376-y. Epub 2018 Dec 13. Genet Med. 2019. PMID: 30542205 Free article.
Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects.
van Karnebeek CD, Blydt-Hansen I, Matthews AM, Avramovic V, Price M, Drogemoller B, Shyr C, Lee J, Mwenifumbo J, Ghani A, Stockler S, Friedman JM, Lehman A; CAUSES Genomic Study; Ross CJ, Wasserman WW, Tarailo-Graovac M, Horvath GA. van Karnebeek CD, et al. Among authors: horvath ga. Neurogenetics. 2021 Oct;22(4):251-262. doi: 10.1007/s10048-021-00652-7. Epub 2021 Jul 2. Neurogenetics. 2021. PMID: 34213677
Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?
Horvath GA, Demos M, Shyr C, Matthews A, Zhang L, Race S, Stockler-Ipsiroglu S, Van Allen MI, Mancarci O, Toker L, Pavlidis P, Ross CJ, Wasserman WW, Trump N, Heales S, Pope S, Cross JH, van Karnebeek CD. Horvath GA, et al. Mol Genet Metab. 2016 Jan;117(1):42-8. doi: 10.1016/j.ymgme.2015.11.008. Epub 2015 Nov 17. Mol Genet Metab. 2016. PMID: 26647175
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
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM, Adam S, du Souich C, Lehman A, Nelson TN, van Karnebeek C, Alderman E, Armstrong L, Aubertin G, Blood K, Boelman C, Boerkoel C, Bretherick K, Brown L, Chijiwa C, Clarke L, Couse M, Creighton S, Watts-Dickens A, Gibson WT, Gill H, Tarailo-Graovac M, Hamilton S, Heran H, Horvath G, Huang L, Hulait GK, Koehn D, Lee HK, Lewis S, Lopez E, Louie K, Niederhoffer K, Matthews A, Meagher K, Peng JJ, Patel MS, Race S, Richmond P, Rupps R, Salvarinova R, Seath K, Selby K, Steinraths M, Stockler S, Tang K, Tyson C, van Allen M, Wasserman W, Mwenifumbo J, Friedman JM. Elliott AM, et al. HGG Adv. 2022 Apr 18;3(3):100108. doi: 10.1016/j.xhgg.2022.100108. eCollection 2022 Jul 14. HGG Adv. 2022. PMID: 35599849 Free PMC article.
Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy.
Thibodeau ML, Peters CH, Townsend KN, Shen Y, Hendson G, Adam S, Selby K, Macleod PM, Gershome C, Ruben P, Jones SJM; FORGE Canada Consortium; Friedman JM, Gibson WT, Horvath GA. Thibodeau ML, et al. Among authors: horvath ga. Am J Med Genet A. 2017 Nov;173(11):3087-3092. doi: 10.1002/ajmg.a.38400. Epub 2017 Sep 12. Am J Med Genet A. 2017. PMID: 28898540
De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy.
Tarailo-Graovac M, Zahir FR, Zivkovic I, Moksa M, Selby K, Sinha S, Nislow C, Stockler-Ipsiroglu SG, Sheffer R, Saada-Reisch A, Friedman JM, van Karnebeek CDM, Horvath GA. Tarailo-Graovac M, et al. Among authors: horvath ga. Mol Genet Genomic Med. 2019 Oct;7(10):e00961. doi: 10.1002/mgg3.961. Epub 2019 Sep 1. Mol Genet Genomic Med. 2019. PMID: 31475481 Free PMC article.
55 results