Dallapiccola B - Search Results

1

Deep Intronic LINE-1 Insertions in NF1: Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements.

Alesi V, Genovese S, Lepri FR, Catino G, Loddo S, Orlando V, Di Tommaso S, Morgia A, Martucci L, Di Donato M, Digilio MC, Dallapiccola B, Novelli A, Capolino R. Alesi V, et al. Among authors: dallapiccola b. Biomolecules. 2023 Apr 23;13(5):725. doi: 10.3390/biom13050725. Biomolecules. 2023. PMID: 37238595 Free PMC article.

2

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

3

FOXI3 pathogenic variants cause one form of craniofacial microsomia.

Mao K, Borel C, Ansar M, Jolly A, Makrythanasis P, Froehlich C, Iwaszkiewicz J, Wang B, Xu X, Li Q, Blanc X, Zhu H, Chen Q, Jin F, Ankamreddy H, Singh S, Zhang H, Wang X, Chen P, Ranza E, Paracha SA, Shah SF, Guida V, Piceci-Sparascio F, Melis D, Dallapiccola B, Digilio MC, Novelli A, Magliozzi M, Fadda MT, Streff H, Machol K, Lewis RA, Zoete V, Squeo GM, Prontera P, Mancano G, Gori G, Mariani M, Selicorni A, Psoni S, Fryssira H, Douzgou S, Marlin S, Biskup S, De Luca A, Merla G, Zhao S, Cox TC, Groves AK, Lupski JR, Zhang Q, Zhang YB, Antonarakis SE. Mao K, et al. Among authors: dallapiccola b. Nat Commun. 2023 Apr 11;14(1):2026. doi: 10.1038/s41467-023-37703-6. Nat Commun. 2023. PMID: 37041148 Free PMC article.

4

Analysis of gut microbiota in patients with Williams-Beuren Syndrome reveals dysbiosis linked to clinical manifestations.

Del Chierico F, Marzano V, Scanu M, Reddel S, Dentici ML, Capolino R, Di Donato M, Spasari I, Fiscarelli EV, Digilio MC, Abreu MT, Dallapiccola B, Putignani L. Del Chierico F, et al. Among authors: dallapiccola b. Sci Rep. 2023 Jun 16;13(1):9797. doi: 10.1038/s41598-023-36704-1. Sci Rep. 2023. PMID: 37328513 Free PMC article.

5

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.

6

Organizational Aspects of the Implementation and Use of Whole Genome Sequencing and Whole Exome Sequencing in the Pediatric Population in Italy: Results of a Survey.

Nurchis MC, Raspolini GM, Heidar Alizadeh A, Altamura G, Radio FC, Tartaglia M, Dallapiccola B, Damiani G. Nurchis MC, et al. Among authors: dallapiccola b. J Pers Med. 2023 May 26;13(6):899. doi: 10.3390/jpm13060899. J Pers Med. 2023. PMID: 37373888 Free PMC article.

7

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.

8

Bayesian cost-effectiveness analysis of Whole genome sequencing versus Whole exome sequencing in a pediatric population with suspected genetic disorders.

Nurchis MC, Radio FC, Salmasi L, Heidar Alizadeh A, Raspolini GM, Altamura G, Tartaglia M, Dallapiccola B, Damiani G. Nurchis MC, et al. Among authors: dallapiccola b. Eur J Health Econ. 2024 Aug;25(6):999-1011. doi: 10.1007/s10198-023-01644-0. Epub 2023 Nov 17. Eur J Health Econ. 2024. PMID: 37975990 Free PMC article.

9

Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.

Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.

10

An interconnected data infrastructure to support large-scale rare disease research.

Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, Mehtarizadeh M, Neerincx P, Ossowski S, Rath A, Roelofs-Prins D, Stok-Benjamins M, van der Velde KJ, Veal C, van der Vries G, Wadsley M, Warren G, Zurek B, Keane T, Graessner H, Beltran S, Swertz MA, Brookes AJ; Solve-RD consortium. Johansson LF, et al. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238 Free PMC article.

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