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2022 2
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2024 3

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Page 1
Hydranencephaly in CENPJ-related Seckel syndrome.
Cuccurullo C, Miele G, Piccolo G, Bilo L, Accogli A, D'Amico A, Fratta M, Guerrisi S, Iacomino M, Salpietro V, Ugga L, Striano P, Coppola A. Cuccurullo C, et al. Among authors: guerrisi s. Eur J Med Genet. 2022 Dec;65(12):104659. doi: 10.1016/j.ejmg.2022.104659. Epub 2022 Nov 2. Eur J Med Genet. 2022. PMID: 36334884
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.
Ognibene M, Scala M, Iacomino M, Schiavetti I, Madia F, Traverso M, Guerrisi S, Di Duca M, Caroli F, Baldassari S, Tappino B, Romano F, Uva P, Vozzi D, Chelleri C, Piatelli G, Diana MC, Zara F, Capra V, Pavanello M, De Marco P. Ognibene M, et al. Among authors: guerrisi s. Cancers (Basel). 2023 Mar 22;15(6):1916. doi: 10.3390/cancers15061916. Cancers (Basel). 2023. PMID: 36980803 Free PMC article.
Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder.
Accogli A, Park YN, Lenk GM, Severino M, Scala M, Denecke J, Hempel M, Lessel D, Kortüm F, Salpietro V, de Marco P, Guerrisi S, Torella A, Nigro V, Srour M, Turro E, Labarque V, Freson K, Piatelli G, Capra V, Kitzman JO, Meisler MH. Accogli A, et al. Among authors: guerrisi s. Genet Med. 2024 Feb 5;26(5):101097. doi: 10.1016/j.gim.2024.101097. Online ahead of print. Genet Med. 2024. PMID: 38334070 Free article.
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders.
Iacomino M, Houerbi N, Fortuna S, Howe J, Li S, Scorrano G, Riva A, Cheng KW, Steiman M, Peltekova I, Yusuf A, Baldassari S, Tamburro S, Scudieri P, Musante I, Di Ludovico A, Guerrisi S, Balagura G, Corsello A, Efthymiou S, Murphy D, Uva P, Verrotti A, Fiorillo C, Delvecchio M, Accogli A, Elsabbagh M, Houlden H, Scherer SW, Striano P, Zara F, Chou TF, Salpietro V. Iacomino M, et al. Among authors: guerrisi s. Front Mol Neurosci. 2024 Apr 8;17:1268013. doi: 10.3389/fnmol.2024.1268013. eCollection 2024. Front Mol Neurosci. 2024. PMID: 38650658 Free PMC article.
Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues.
Romano F, Madia F, De Marco P, Ognibene M, Guerrisi S, Scala M, Iacomino M, Baldassari S, Vercellino N, Manunza F, Tallone R, Pavanello M, Piatelli G, Garaventa A, Zara F, Capra V. Romano F, et al. Among authors: guerrisi s. Birth Defects Res. 2022 Dec 1;114(20):1440-1448. doi: 10.1002/bdr2.2113. Epub 2022 Nov 8. Birth Defects Res. 2022. PMID: 36345927