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The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders.
Front Genet. 2022 Aug 11;13:875182. doi: 10.3389/fgene.2022.875182. eCollection 2022.
Front Genet. 2022.
PMID: 36035117
Free PMC article.
Retrospective Diagnosis of a Novel ACAN Pathogenic Variant in a Family With Short Stature: A Case Report and Review of the Literature.
Mancioppi V, Prodam F, Mellone S, Ricotti R, Giglione E, Grasso N, Vurchio D, Petri A, Rabbone I, Giordano M, Bellone S.
Mancioppi V, et al. Among authors: vurchio d.
Front Genet. 2021 Aug 12;12:708864. doi: 10.3389/fgene.2021.708864. eCollection 2021.
Front Genet. 2021.
PMID: 34456977
Free PMC article.
Item in Clipboard
A Long Contiguous Stretch of Homozygosity Disclosed a Novel STAG3 Biallelic Pathogenic Variant Causing Primary Ovarian Insufficiency: A Case Report and Review of the Literature.
Mellone S, Zavattaro M, Vurchio D, Ronzani S, Caputo M, Leone I, Prodam F, Giordano M.
Mellone S, et al. Among authors: vurchio d.
Genes (Basel). 2021 Oct 27;12(11):1709. doi: 10.3390/genes12111709.
Genes (Basel). 2021.
PMID: 34828315
Free PMC article.
Review.
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Co-Occurrence of a Pathogenic HSD3B2 Variant and a Duplication on 10q22.3-q23.2 Detected in Newborn Twins with Salt-Wasting Congenital Adrenal Hyperplasia.
Mellone S, Bertelli E, Roviglione B, Vurchio D, Ronzani S, Secco A, Felici E, Strozzi MM, Schena F, Giordano M.
Mellone S, et al. Among authors: vurchio d.
Genes (Basel). 2022 Nov 23;13(12):2190. doi: 10.3390/genes13122190.
Genes (Basel). 2022.
PMID: 36553457
Free PMC article.
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