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Page 1
Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila.
Müller F, Neuser S, Shrestha G, Neupane NP, Götze KJ, Brunetti-Pierri N, Terrone G, Reymond A, van Gassen KL, Brilstra E, Steindl K, Begemann A, Rauch A, Rips J, Fahham D, Barakat TS, Patat O, Mortreux J, Chau MHK, Rosenfeld JA, Mizerik E, Srivastava S, Luo X, Dahse AK, Scholz N, Das J, Roman G, Langenhan T, Abou Jamra R, Mrestani A, Ljaschenko D. Müller F, et al. Among authors: brunetti pierri n. Biochem Biophys Rep. 2025 Nov 28;45:102375. doi: 10.1016/j.bbrep.2025.102375. eCollection 2026 Mar. Biochem Biophys Rep. 2025. PMID: 41399760 Free PMC article.
9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms.
De Falco A, Vincent M, Vieville G, Gauthier M, Dieterich K, Coutton C, Loddo S, Novelli A, Dallapiccola B, Digilio MC, Briuglia S, Bernardini L, Fontana P, Madej-Pilarczyk A, Młynek M, De Falco L, Acquaviva F, De Brasi D, Faivre L, Dauver L, Alnuaimi N, Callier P, Trevisan V, Onesimo R, Leoni C, Zampino G, Neri G, Delplancq G, Perrin L, White SM, Guerrini R, Mei D, Sani I, Pantaleo M, Peron A, Brunetti-Pierri N. De Falco A, et al. Among authors: brunetti pierri n. Am J Med Genet A. 2026 Mar;200(3):706-717. doi: 10.1002/ajmg.a.64303. Epub 2025 Nov 20. Am J Med Genet A. 2026. PMID: 41267543
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes.
Di Letto P, De Leonibus C, Palmieri FP, Zanobio M, Scarpato M, Cetrangolo V, Rahman SI, Selicorni A, Mariani M, D'Arrigo S, Ciaccio C, Milani D, Ajmone PF, Morleo M, Spampanato C, Piluso G, Zollino M, L'Erario FF, Greco D, Capra V, Scala M, Romano F, Terrone G, De Falco A, Paolella C, Mastrangelo M, Ricciardi G, Brunetti-Pierri N; Telethon Undiagnosed Diseases Program Study Group; Nigro V, Torella A. Di Letto P, et al. Among authors: brunetti pierri n. Neurol Genet. 2025 Oct 20;11(6):e200312. doi: 10.1212/NXG.0000000000200312. eCollection 2025 Dec. Neurol Genet. 2025. PMID: 41127311 Free PMC article.
DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective.
van der Laan L, Karimi K, Rooney K, Alders M, Brusco A, Lasa-Aranzasti A, Brunetti-Pierri N, Cueto-Gonzalez AM, DuPont BR, Cappuccio G, Dubourg C, Everman D, Gatinois V, Ganne B, Genevieve D, Ferrero GB, Kempers M, Levy MA, Niceta M, Novelli A, Orlando V, Odent S, Patterson WG, Polstra AM, Roscioli T, Ruiz-Pallares N, Sabbagh Q, Trajkova S, Tartaglia M, Tedder MA, Toutain A, Koehler U, Valenzuela I, van Hagen JM, van der Kevie-Kersemaekers AM, Henneman P, Mannens MMAM, Sadikovic B, van Haelst MM. van der Laan L, et al. Among authors: brunetti pierri n. Eur J Hum Genet. 2026 Jan;34(1):90-98. doi: 10.1038/s41431-025-01956-0. Epub 2025 Sep 30. Eur J Hum Genet. 2026. PMID: 41028553
A clinical and genotype-phenotype analysis of MACF1 variants.
Dekker J, Schot R, Aldinger KA, Everman DB, Washington C, Jones JR, Sullivan JA, Spillmann RC, Shashi V, Vitobello A, Denommé-Pichon AS, Mosca-Boidron AL, Perrin L, Auvin S, Zaki MS, Gleeson JG, Meave N, Wallace C, Nambot S, Delanne J, Ruggiero SM, Helbig I, Fitzgerald MP, Leventer RJ, Grange DK, Argilli E, Sherr EH, Prakash S, Neilson DE, Nicita F, Sferra A, Bertini ES, Aiello C, Brockmann K, Kuranov AB, Kaulfuss S, Basit S, Alluqmani M, Almatrafi A, Friedman JM, Guimond C, Mohammed F, Sharma P, Goel D, Wirth T, Anheim M, Bahena P, Koparir A, Kolokotronis K, Vona B, Haaf T, Kunstmann E, Maroofian R, Sczakiel HL, Boschann F, Misra-Isrie M, Louie RJ, Stolerman ES, Sanchez-Lara PA, Mergler S, Oegema R, Zarate YA, Kariminejad A, Tajsharghi H, Zeidler S, Kievit AJA, Bouman A, Cappuccio G, Brunetti-Pierri N, Stuurman KE, Swols DM, Tekin M, Upadia J, Martin DM, Craven D, Hiatt SM, van de Pol LA, D'Arco F, Margot H, Wilke M, Yousefi S, Barakat TS, van Veghel-Plandsoen MM, Aronica E, Anink J, Rogers SL, Slep KC, Doherty D, Dobyns WB, Mancini GMS. Dekker J, et al. Among authors: brunetti pierri n. Am J Hum Genet. 2025 Oct 2;112(10):2363-2380. doi: 10.1016/j.ajhg.2025.08.010. Epub 2025 Sep 8. Am J Hum Genet. 2025. PMID: 40925378
Hepatocyte delivery of miR-34b/c reduces hepatic stellate cell activation and improves liver fibrosis.
Piccolo P, Ferriero R, Perna C, Nusco E, Monti M, De Cegli R, Barbato A, Sorrentino NC, Viscomi MT, Cariello M, Moschetta A, Campione S, Brunetti-Pierri N. Piccolo P, et al. Among authors: brunetti pierri n. Mol Ther Nucleic Acids. 2025 Jun 9;36(3):102593. doi: 10.1016/j.omtn.2025.102593. eCollection 2025 Sep 9. Mol Ther Nucleic Acids. 2025. PMID: 40635671 Free PMC article.
293 results