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Page 1
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: cappelletti c. Eur J Hum Genet. 2024 Jul;32(7):819-826. doi: 10.1038/s41431-024-01597-9. Epub 2024 Mar 25. Eur J Hum Genet. 2024. PMID: 38528056 Free PMC article.
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants.
Ferilli M, Ciolfi A, Pedace L, Niceta M, Radio FC, Pizzi S, Miele E, Cappelletti C, Mancini C, Galluccio T, Andreani M, Iascone M, Chiriatti L, Novelli A, Micalizzi A, Matraxia M, Menale L, Faletra F, Prontera P, Pilotta A, Bedeschi MF, Capolino R, Baban A, Seri M, Mammì C, Zampino G, Digilio MC, Dallapiccola B, Priolo M, Tartaglia M. Ferilli M, et al. Among authors: cappelletti c. Genes (Basel). 2022 Nov 19;13(11):2163. doi: 10.3390/genes13112163. Genes (Basel). 2022. PMID: 36421837 Free PMC article.
Natural history of MRAS-related Noonan syndrome: Evidence of mild adult-onset left ventricular hypertrophy and neuropsychiatric features.
Priolo M, Mancini C, Radio FC, Chiriatti L, Ciolfi A, Cappelletti C, Cordeddu V, Pintomalli L, Brusco A, Mammi C, Tartaglia M. Priolo M, et al. Among authors: cappelletti c. Am J Med Genet C Semin Med Genet. 2023 Jun;193(2):160-166. doi: 10.1002/ajmg.c.32034. Epub 2023 Feb 3. Am J Med Genet C Semin Med Genet. 2023. PMID: 36734411 Free article.
Case report: Expanding the phenotype of FOXP1-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures.
Cesaroni CA, Pollazzon M, Mancini C, Rizzi S, Cappelletti C, Pizzi S, Frattini D, Spagnoli C, Caraffi SG, Zuntini R, Trimarchi G, Niceta M, Radio FC, Tartaglia M, Garavelli L, Fusco C. Cesaroni CA, et al. Among authors: cappelletti c. Front Neurol. 2023 Jul 14;14:1207176. doi: 10.3389/fneur.2023.1207176. eCollection 2023. Front Neurol. 2023. PMID: 37521304 Free PMC article.
Identification of a robust DNA methylation signature for Fanconi anemia.
Pagliara D, Ciolfi A, Pedace L, Haghshenas S, Ferilli M, Levy MA, Miele E, Nardini C, Cappelletti C, Relator R, Pitisci A, De Vito R, Pizzi S, Kerkhof J, McConkey H, Nazio F, Kant SG, Di Donato M, Agolini E, Matraxia M, Pasini B, Pelle A, Galluccio T, Novelli A, Barakat TS, Andreani M, Rossi F, Mecucci C, Savoia A, Sadikovic B, Locatelli F, Tartaglia M. Pagliara D, et al. Among authors: cappelletti c. Am J Hum Genet. 2023 Nov 2;110(11):1938-1949. doi: 10.1016/j.ajhg.2023.09.014. Epub 2023 Oct 20. Am J Hum Genet. 2023. PMID: 37865086 Free PMC article.
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.
Dentici ML, Niceta M, Lepri FR, Mancini C, Priolo M, Bonnard AA, Cappelletti C, Leoni C, Ciolfi A, Pizzi S, Cordeddu V, Rossi C, Ferilli M, Mucciolo M, Colona VL, Fauth C, Bellini M, Biasucci G, Sinibaldi L, Briuglia S, Gazzin A, Carli D, Memo L, Trevisson E, Schiavariello C, Luca M, Novelli A, Michot C, Sweertvaegher A, Germanaud D, Scarano E, De Luca A, Zampino G, Zenker M, Mussa A, Dallapiccola B, Cavé H, Digilio MC, Tartaglia M. Dentici ML, et al. Among authors: cappelletti c. Eur J Hum Genet. 2024 Aug;32(8):954-963. doi: 10.1038/s41431-024-01642-7. Epub 2024 Jun 1. Eur J Hum Genet. 2024. PMID: 38824261 Free PMC article.
The Arg99Gln Substitution in HNRNPC Is Associated with a Distinctive Clinical Phenotype Characterized by Facial Dysmorphism and Ocular and Cochlear Anomalies.
Chiriatti L, Priolo M, Onesimo R, Carvetta M, Leoni C, Bruselles A, Radio FC, Cappelletti C, Ferilli M, Ricci D, Niceta M, Cordeddu V, Ciolfi A, Mancini C, Zampino G, Tartaglia M. Chiriatti L, et al. Among authors: cappelletti c. Genes (Basel). 2025 Feb 1;16(2):176. doi: 10.3390/genes16020176. Genes (Basel). 2025. PMID: 40004505 Free PMC article.
Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants.
Bruselles A, Mancini C, Chiriatti L, Carvetta M, Baroni MC, Cappelletti C, Caraffi SG, Celario M, Ciolfi A, Cordeddu V, De Falco A, Ferilli M, Garavelli L, Leoni C, Meossi C, Niceta M, Onesimo R, Peluso F, Politano D, Priolo M, Radio FC, Santorelli F, Signorini S, Sirchia F, Valente EM, Zampino G, Tartaglia M. Bruselles A, et al. Among authors: cappelletti c. Eur J Hum Genet. 2025 Apr;33(4):432-440. doi: 10.1038/s41431-025-01820-1. Epub 2025 Feb 26. Eur J Hum Genet. 2025. PMID: 40011755
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci.
Hildonen M, Ciolfi A, Ferilli M, Cappelletti C, Al Alam C, Amor DJ, Barakat TS, Benoit V, Birk OS, Callewaert B, Cazurro-Gutiérrez A, De Wachter M, Doco-Fenzy M, Gómez-Puertas P, Hammer TB, Jamra RA, Kaiyrzhanov R, Kameyama S, Keren B, Kresge C, Krey I, Lederer D, Marcos-Alcalde I, Maroofian R, Matsumoto N, Mizuguchi T, Moey LH, Morgan A, Munell F, Platzer K, Pletcher BA, Ros-Pardo D, Rumping L, Szakszon K, Van Schil K, Verdura E, Vogt J, Wassmer E, Zamani M, Tümer Z, Tartaglia M. Hildonen M, et al. Among authors: cappelletti c. Eur J Hum Genet. 2025 Jul;33(7):896-903. doi: 10.1038/s41431-025-01876-z. Epub 2025 May 23. Eur J Hum Genet. 2025. PMID: 40410387
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