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Variant sub-tiering, disease-gene associations and strictness of clinical criteria improves the interpretation of variants of uncertain significance in hereditary cardiomyopathies and rhythm disorders.
Castori M, Mastroianno S, Fontana A, Morlino S, Nardella G, Di Muro E, Palumbo P, Leone MP, Pracella R, Palumbo O, Petracca A, Potenza DR, Carella M, De Luca G, Coli C, Massaro RS, De Santis R, Vaccaro L, Cesana M, Cacchiarelli D, Copetti M, Fusco C, Di Stolfo G. Castori M, et al. Among authors: cacchiarelli d. J Hum Genet. 2025 Jul;70(7):349-358. doi: 10.1038/s10038-025-01344-y. Epub 2025 Apr 30. J Hum Genet. 2025. PMID: 40307381
Integrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease-gene association.
Cesana M, Vaccaro L, Larsen MJ, Kibæk M, Micale L, Riccardo S, Annunziata P, Colantuono C, Di Filippo L, De Brasi D, Castori M, Fagerberg C, Acquaviva F, Cacchiarelli D. Cesana M, et al. Among authors: cacchiarelli d. Hum Genet. 2023 Mar;142(3):343-350. doi: 10.1007/s00439-022-02497-y. Epub 2022 Dec 5. Hum Genet. 2023. PMID: 36469137 Free PMC article.
Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies.
Micale L, Vourlia A, Fusco C, Pracella R, Karagiannis DC, Nardella G, Vaccaro L, Leone MP, Gramazio A, Dentici ML, Aiello C, Novelli A, Xenou L, Sui Y, Eichler EE, Cacchiarelli D, Mavrothalassitis G, Castori M. Micale L, et al. Among authors: cacchiarelli d. Eur J Hum Genet. 2025 Jun;33(6):718-726. doi: 10.1038/s41431-024-01721-9. Epub 2024 Dec 12. Eur J Hum Genet. 2025. PMID: 39668184
Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement.
Micale L, Morlino S, Carbone A, Carissimo A, Nardella G, Fusco C, Palumbo O, Schirizzi A, Russo F, Mazzoccoli G, Breckpot J, De Luca C, Ferraris A, Giunta C, Grammatico P, Haanpää MK, Mancano G, Forzano G, Cacchiarelli D, Van Esch H, Callewaert B, Rohrbach M, Castori M. Micale L, et al. Among authors: cacchiarelli d. Genet Med. 2022 Feb;24(2):439-453. doi: 10.1016/j.gim.2021.10.009. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906501 Free article.
Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center.
Fecarotta S, Vaccaro L, Verde A, Alagia M, Rossi A, Colantuono C, Cacciapuoti MT, Annunziata P, Riccardo S, Grimaldi A, Fusco T, De Santis R, Barretta F, Albano L, Crisci D, Vallone F, Tarallo A, Cesana M, Brunetti-Pierri N, Frisso G, Ruoppolo M, Cacchiarelli D, Parenti G. Fecarotta S, et al. Among authors: cacchiarelli d. Orphanet J Rare Dis. 2025 Jan 24;20(1):38. doi: 10.1186/s13023-025-03546-1. Orphanet J Rare Dis. 2025. PMID: 39856690 Free PMC article.
TFEB and TFE3 control glucose homeostasis by regulating insulin gene expression.
Pasquier A, Pastore N, D'Orsi L, Colonna R, Esposito A, Maffia V, De Cegli R, Mutarelli M, Ambrosio S, Tufano G, Grimaldi A, Cesana M, Cacchiarelli D, Delalleau N, Napolitano G, Ballabio A. Pasquier A, et al. Among authors: d orsi l, cacchiarelli d. EMBO J. 2023 Nov 2;42(21):e113928. doi: 10.15252/embj.2023113928. Epub 2023 Sep 15. EMBO J. 2023. PMID: 37712288 Free PMC article.
Automatic identification of small molecules that promote cell conversion and reprogramming.
Napolitano F, Rapakoulia T, Annunziata P, Hasegawa A, Cardon M, Napolitano S, Vaccaro L, Iuliano A, Wanderlingh LG, Kasukawa T, Medina DL, Cacchiarelli D, Gao X, di Bernardo D, Arner E. Napolitano F, et al. Among authors: cacchiarelli d. Stem Cell Reports. 2021 May 11;16(5):1381-1390. doi: 10.1016/j.stemcr.2021.03.028. Epub 2021 Apr 22. Stem Cell Reports. 2021. PMID: 33891873 Free PMC article.
67 results