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DNA Methylation in the Fields of Prenatal Diagnosis and Early Detection of Cancers.
Int J Mol Sci. 2023 Jul 20;24(14):11715. doi: 10.3390/ijms241411715.
Int J Mol Sci. 2023.
PMID: 37511475
Free PMC article.
Review.
Genome-wide DNA methylation profiling and exome sequencing resolved a long-time misdiagnosed case.
Paparella A, Squeo GM, Di Venere E, Cardea E, Mazza T, Castellana S, Kerkhof J, McConkey H, Sadikovic B, Sinibaldi L, Digilio MC, Merla G.
Paparella A, et al. Among authors: di venere e.
J Hum Genet. 2022 Sep;67(9):547-551. doi: 10.1038/s10038-022-01043-y. Epub 2022 May 18.
J Hum Genet. 2022.
PMID: 35581385
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Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome.
Rooney K, Levy MA, Haghshenas S, Kerkhof J, Rogaia D, Tedesco MG, Imperatore V, Mencarelli A, Squeo GM, Di Venere E, Di Cara G, Verrotti A, Merla G, Tedder ML, DuPont BR, Sadikovic B, Prontera P.
Rooney K, et al. Among authors: di venere e.
Int J Mol Sci. 2021 Aug 10;22(16):8611. doi: 10.3390/ijms22168611.
Int J Mol Sci. 2021.
PMID: 34445317
Free PMC article.
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