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Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment.
Nurchis MC, Altamura G, Riccardi MT, Radio FC, Chillemi G, Bertini ES, Garlasco J, Tartaglia M, Dallapiccola B, Damiani G. Nurchis MC, et al. Among authors: dallapiccola b. Arch Public Health. 2023 May 25;81(1):93. doi: 10.1186/s13690-023-01112-4. Arch Public Health. 2023. PMID: 37231492 Free PMC article.
Remember Friedreich ataxia even in a toddler with apparently isolated dilated (not hypertrophic!) cardiomyopathy. Revisited.
Baban A, Cicenia M, Travaglini L, Calì F, Vasco G, Francalanci P, Novelli A, Adorisio R, Amodeo A, Dallapiccola B, Bertini E, Drago F. Baban A, et al. Among authors: dallapiccola b. Minerva Pediatr (Torino). 2023 Feb;75(1):117-123. doi: 10.23736/S2724-5276.21.05969-3. Epub 2021 Apr 2. Minerva Pediatr (Torino). 2023. PMID: 33820410
Williams-Beuren syndrome shapes the gut microbiota metaproteome.
Marzano V, Levi Mortera S, Vernocchi P, Del Chierico F, Marangelo C, Guarrasi V, Gardini S, Dentici ML, Capolino R, Digilio MC, Di Donato M, Spasari I, Abreu MT, Dallapiccola B, Putignani L. Marzano V, et al. Among authors: dallapiccola b. Sci Rep. 2023 Nov 3;13(1):18963. doi: 10.1038/s41598-023-46052-9. Sci Rep. 2023. PMID: 37923896 Free PMC article.
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism.
Niceta M, Ciolfi A, Ferilli M, Pedace L, Cappelletti C, Nardini C, Hildonen M, Chiriatti L, Miele E, Dentici ML, Gnazzo M, Cesario C, Pisaneschi E, Baban A, Novelli A, Maitz S, Selicorni A, Squeo GM, Merla G, Dallapiccola B, Tumer Z, Digilio MC, Priolo M, Tartaglia M. Niceta M, et al. Among authors: dallapiccola b. Eur J Hum Genet. 2024 Mar 25. doi: 10.1038/s41431-024-01597-9. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38528056
970 results