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Year | Number of Results |
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2020 | 1 |
2022 | 2 |
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Page 1
Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants.
Eur J Hum Genet. 2023 Jul;31(7):805-814. doi: 10.1038/s41431-023-01351-7. Epub 2023 Apr 14.
Eur J Hum Genet. 2023.
PMID: 37059841
Review.
Retinal and Brain Organoids: Bridging the Gap Between in vivo Physiology and in vitro Micro-Physiology for the Study of Alzheimer's Diseases.
Brighi C, Cordella F, Chiriatti L, Soloperto A, Di Angelantonio S.
Brighi C, et al. Among authors: chiriatti l.
Front Neurosci. 2020 Jun 17;14:655. doi: 10.3389/fnins.2020.00655. eCollection 2020.
Front Neurosci. 2020.
PMID: 32625060
Free PMC article.
Review.
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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: chiriatti l.
Genes (Basel). 2022 Nov 19;13(11):2163. doi: 10.3390/genes13112163.
Genes (Basel). 2022.
PMID: 36421837
Free PMC article.
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Complex Presentation of Hao-Fountain Syndrome Solved by Exome Sequencing Highlighting Co-Occurring Genomic Variants.
Priolo M, Mancini C, Pizzi S, Chiriatti L, Radio FC, Cordeddu V, Pintomalli L, Mammì C, Dallapiccola B, Tartaglia M.
Priolo M, et al. Among authors: chiriatti l.
Genes (Basel). 2022 May 16;13(5):889. doi: 10.3390/genes13050889.
Genes (Basel). 2022.
PMID: 35627274
Free PMC article.
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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: chiriatti l.
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
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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: chiriatti l.
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
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