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Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.
Leonardi E, Aspromonte MC, Drongitis D, Bettella E, Verrillo L, Polli R, McEntagart M, Licchetta L, Dilena R, D'Arrigo S, Ciaccio C, Esposito S, Leuzzi V, Torella A, Baldo D, Lonardo F, Bonato G, Pellegrin S, Stanzial F, Posmyk R, Kaczorowska E, Carecchio M, Gos M, Rzońca-Niewczas S, Miano MG, Murgia A. Leonardi E, et al. Among authors: ciaccio c. Eur J Hum Genet. 2023 Feb;31(2):202-215. doi: 10.1038/s41431-022-01233-4. Epub 2022 Nov 25. Eur J Hum Genet. 2023. PMID: 36434256 Free PMC article.
A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES).
Leonardi E, Bellini M, Aspromonte MC, Polli R, Mercante A, Ciaccio C, Granocchio E, Bettella E, Donati I, Cainelli E, Boni S, Sartori S, Pantaleoni C, Boniver C, Murgia A. Leonardi E, et al. Among authors: ciaccio c. Genes (Basel). 2020 Mar 24;11(3):344. doi: 10.3390/genes11030344. Genes (Basel). 2020. PMID: 32214004 Free PMC article.
Abnormal cerebellar foliation in EBF3 mutation.
D'Arrigo S, Moscatelli M, Ciaccio C, Pantaleoni C, Castello R, Chiapparini L; TUDP Study Group. D'Arrigo S, et al. Among authors: ciaccio c. Neurology. 2020 May 26;94(21):933-935. doi: 10.1212/WNL.0000000000009486. Epub 2020 May 4. Neurology. 2020. PMID: 32366537 No abstract available.
Neurological phenotype of Potocki-Lupski syndrome.
Ciaccio C, Pantaleoni C, Milani D, Alfei E, Sciacca FL, Canafoglia L, Erbetta A, D'Arrigo S. Ciaccio C, et al. Am J Med Genet A. 2020 Oct;182(10):2317-2324. doi: 10.1002/ajmg.a.61789. Epub 2020 Aug 15. Am J Med Genet A. 2020. PMID: 33043631
Identification of an Identical de Novo SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental Delay.
Jiao X, Morleo M, Nigro V, Torella A, D'Arrigo S, Ciaccio C, Pantaleoni C, Gong P, Grand K, Sanchez-Lara PA, Krier J, Fieg E, Stergachis A, Wang X, Yang Z. Jiao X, et al. Among authors: ciaccio c. Front Pharmacol. 2020 Dec 18;11:599191. doi: 10.3389/fphar.2020.599191. eCollection 2020. Front Pharmacol. 2020. PMID: 33390987 Free PMC article.
192 results