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Clinical next generation sequencing in developmental and epileptic encephalopathies: Diagnostic relevance of data re-analysis and variants re-interpretation.
Salinas V, Martínez N, Maturo JP, Rodriguez-Quiroga SA, Zavala L, Medina N, Amartino H, Sfaello I, Agosta G, Serafín EM, Morón DG, Kauffman MA, Vega P. Salinas V, et al. Among authors: moron dg. Eur J Med Genet. 2021 Dec;64(12):104363. doi: 10.1016/j.ejmg.2021.104363. Epub 2021 Oct 18. Eur J Med Genet. 2021. PMID: 34673242
The epilepsy phenome/genome project.
EPGP Collaborative, Abou-Khalil B, Alldredge B, Bautista J, Berkovic S, Bluvstein J, Boro A, Cascino G, Consalvo D, Cristofaro S, Crumrine P, Devinsky O, Dlugos D, Epstein M, Fahlstrom R, Fiol M, Fountain N, Fox K, French J, Freyer Karn C, Friedman D, Geller E, Glauser T, Glynn S, Haas K, Haut S, Hayward J, Helmers S, Joshi S, Kanner A, Kirsch H, Knowlton R, Kossoff E, Kuperman R, Kuzniecky R, Lowenstein D, McGuire S, Motika P, Nesbitt G, Novotny E, Ottman R, Paolicchi J, Parent J, Park K, Poduri A, Risch N, Sadleir L, Scheffer I, Shellhaas R, Sherr E, Shih JJ, Shinnar S, Singh R, Sirven J, Smith M, Sullivan J, Thio LL, Venkat A, Vining E, von Allmen G, Weisenberg J, Widdess-Walsh P, Winawer M. EPGP Collaborative, et al. Clin Trials. 2013 Aug;10(4):568-86. doi: 10.1177/1740774513484392. Epub 2013 Jul 1. Clin Trials. 2013. PMID: 23818435 Free PMC article.
Myoclonus and angiokeratomas in adult galactosialidosis.
Abaroa L, Garretto NS, Arakaki T, Kauffman M, Moron DG, Figueredo AM, Szlago M, Metman LV. Abaroa L, et al. Among authors: moron dg. Mov Disord. 2011 Mar;26(4):756-7. doi: 10.1002/mds.23500. Epub 2011 Feb 10. Mov Disord. 2011. PMID: 21312277 No abstract available.
Re: How accurate are bedside hearing tests?
Kauffman MA, Moron DG, Bruno V. Kauffman MA, et al. Among authors: moron dg. Neurology. 2007 Sep 25;69(13):1382; author reply 1382. doi: 10.1212/01.wnl.0000286558.63435.28. Neurology. 2007. PMID: 17893301 No abstract available.