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Page 1
De novo variants in DENND5B cause a neurodevelopmental disorder.
Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA 3rd, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P; Undiagnosed Diseases Network; Rosenfeld JA, Bellus G, Reed S, Al Saif H, Russo RS, Walsh MB, Cantagrel V, Crunk A, Gustincich S, Ruggiero SM, Fitzgerald MP, Helbig I, Striano P, Severino M, Salpietro V, Pedemonte N, Zara F. Scala M, et al. Among authors: gustincich s. Am J Hum Genet. 2024 Mar 7;111(3):529-543. doi: 10.1016/j.ajhg.2024.02.001. Epub 2024 Feb 21. Am J Hum Genet. 2024. PMID: 38387458 Free PMC article.
SINEUP non-coding RNA activity depends on specific N6-methyladenosine nucleotides.
Pierattini B, D'Agostino S, Bon C, Peruzzo O, Alendar A, Codino A, Ros G, Persichetti F, Sanges R, Carninci P, Santoro C, Espinoza S, Valentini P, Pandolfini L, Gustincich S. Pierattini B, et al. Among authors: gustincich s. Mol Ther Nucleic Acids. 2023 Apr 7;32:402-414. doi: 10.1016/j.omtn.2023.04.002. eCollection 2023 Jun 13. Mol Ther Nucleic Acids. 2023. PMID: 37187707 Free PMC article.
Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing.
Rosti G, Boeri S, Divizia MT, Pisciotta L, Mancardi MM, Lerone M, Cerminara M, Servetti M, Spirito G, Vozzi D, Fontana M, Gustincich S, Nobili L, Zara F, Puliti A. Rosti G, et al. Among authors: gustincich s. Mol Syndromol. 2023 Oct;14(5):433-438. doi: 10.1159/000529408. Epub 2023 May 9. Mol Syndromol. 2023. PMID: 37915395 Free PMC article.
SINEUP RNA rescues molecular phenotypes associated with CHD8 suppression in Autism Spectrum Disorder model systems.
Di Leva F, Arnoldi M, Santarelli S, Massonot M, Lemée MV, Bon C, Pellegrini M, Castellini ME, Zarantonello G, Messina A, Bozzi Y, Bernier R, Zucchelli S, Casarosa S, Dassi E, Ronzitti G, Golzio C, Morandell J, Gustincich S, Espinoza S, Biagioli M. Di Leva F, et al. Among authors: gustincich s. Mol Ther. 2024 Dec 30:S1525-0016(24)00843-8. doi: 10.1016/j.ymthe.2024.12.043. Online ahead of print. Mol Ther. 2024. PMID: 39741407 Free article.
Structure-Based Discovery of Mouse Trace Amine-Associated Receptor 5 Antagonists.
Nicoli A, Weber V, Bon C, Steuer A, Gustincich S, Gainetdinov RR, Lang R, Espinoza S, Di Pizio A. Nicoli A, et al. Among authors: gustincich s. J Chem Inf Model. 2023 Nov 13;63(21):6667-6680. doi: 10.1021/acs.jcim.3c00755. Epub 2023 Oct 17. J Chem Inf Model. 2023. PMID: 37847527 Free PMC article.
Detection of somatic and germline pathogenic variants in adult cohort of drug-resistant focal epilepsies.
Ferri L, Menghi V, Licchetta L, Dimartino P, Minardi R, Davì C, Di Vito L, Cifaldi E, Zenesini C, Gozzo F, Pelliccia V, Mariani V, de Spelorzi YCC, Gustincich S, Seri M, Tassi L, Pippucci T, Bisulli F. Ferri L, et al. Among authors: gustincich s. Epilepsy Behav. 2024 Apr;153:109716. doi: 10.1016/j.yebeh.2024.109716. Epub 2024 Mar 19. Epilepsy Behav. 2024. PMID: 38508103
167 results