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Mendelian diseases among Roman Jews: implications for the origins of disease alleles.
Oddoux C, Guillen-Navarro E, Ditivoli C, Dicave E, Cilio MR, Clayton CM, Nelson H, Sarafoglou K, McCain N, Peretz H, Seligsohn U, Luzzatto L, Nafa K, Nardi M, Karpatkin M, Aksentijevich I, Kastner D, Axelrod F, Ostrer H. Oddoux C, et al. Among authors: cilio mr. J Clin Endocrinol Metab. 1999 Dec;84(12):4405-9. doi: 10.1210/jcem.84.12.6268. J Clin Endocrinol Metab. 1999. PMID: 10599695 Review.
Dysregulation of locus coeruleus development in congenital central hypoventilation syndrome.
Nobuta H, Cilio MR, Danhaive O, Tsai HH, Tupal S, Chang SM, Murnen A, Kreitzer F, Bravo V, Czeisler C, Gokozan HN, Gygli P, Bush S, Weese-Mayer DE, Conklin B, Yee SP, Huang EJ, Gray PA, Rowitch D, Otero JJ. Nobuta H, et al. Among authors: cilio mr. Acta Neuropathol. 2015 Aug;130(2):171-83. doi: 10.1007/s00401-015-1441-0. Epub 2015 May 15. Acta Neuropathol. 2015. PMID: 25975378 Free PMC article.
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.
Marini C, Scheffer IE, Nabbout R, Mei D, Cox K, Dibbens LM, McMahon JM, Iona X, Carpintero RS, Elia M, Cilio MR, Specchio N, Giordano L, Striano P, Gennaro E, Cross JH, Kivity S, Neufeld MY, Afawi Z, Andermann E, Keene D, Dulac O, Zara F, Berkovic SF, Guerrini R, Mulley JC. Marini C, et al. Among authors: cilio mr. Epilepsia. 2009 Jul;50(7):1670-8. doi: 10.1111/j.1528-1167.2009.02013.x. Epub 2009 Mar 12. Epilepsia. 2009. PMID: 19400878 Free article.
Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.
Lal D, Reinthaler EM, Dejanovic B, May P, Thiele H, Lehesjoki AE, Schwarz G, Riesch E, Ikram MA, van Duijn CM, Uitterlinden AG, Hofman A, Steinböck H, Gruber-Sedlmayr U, Neophytou B, Zara F, Hahn A; Genetic Commission of the Italian League against Epilepsy; EuroEPINOMICS CoGIE Consortium; Gormley P, Becker F, Weber YG, Cilio MR, Kunz WS, Krause R, Zimprich F, Lemke JR, Nürnberg P, Sander T, Lerche H, Neubauer BA. Lal D, et al. Among authors: cilio mr. PLoS One. 2016 Mar 18;11(3):e0150426. doi: 10.1371/journal.pone.0150426. eCollection 2016. PLoS One. 2016. PMID: 26990884 Free PMC article. Clinical Trial.
The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria.
Helbig I, Riggs ER, Barry CA, Klein KM, Dyment D, Thaxton C, Sadikovic B, Sands TT, Wagnon JL, Liaquat K, Cilio MR, Mirzaa G, Park K, Axeen E, Butler E, Bardakjian TM, Striano P, Poduri A, Siegert RK, Grant AR, Helbig KL, Mefford HC. Helbig I, et al. Among authors: cilio mr. Hum Mutat. 2018 Nov;39(11):1476-1484. doi: 10.1002/humu.23632. Hum Mutat. 2018. PMID: 30311377 Free PMC article.
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