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American Journal of Medical Genetics. Part A|September 28, 2020
PPP1R21-related syndromic intellectual disability: Report of an adult patient and reviewSara Loddo, Viola Alesi, Francesca Clementina Radio, et al.
BMC Medical Genetics|September 17, 2018
First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case reportAnwar Baban, Monia Magliozzi, Bart Loeys, et al.
European Journal of Human Genetics : EJHG|October 8, 2009
High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?Laura Bernardini, Viola Alesi, Sara Loddo, et al.
Genes|October 27, 2022
Different Mechanisms Cause Hypomethylation of Both H19 and KCNQ1OT1 Imprinted Differentially Methylated Regions in Two Cases of Silver-Russell Syndrome SpectrumFrancesco Passaretti, Laura Pignata, Giuseppina Vitiello, et al.
American Journal of Medical Genetics. Part A|March 3, 2022
Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X, DDX3X, and CASK genes in two patients with syndromic intellectual disabilityGiorgia Catino, Silvia Genovese, Silvia Di Tommaso, et al.
American Journal of Medical Genetics. Part A|December 13, 2021
8p23.1 deletion: Look out for left ventricular hypertrabeculation and not only congenital heart diseases. Single-center experience and literature revisionMarianna Cicenia, Viola Alesi, Valeria Orlando, et al.
Cytogenetic and Genome Research|October 30, 2018
First Report of Low-Rate Mosaicism for 20q11.21q12 Deletion and Delineation of the Associated DisorderSara Loddo, Viola Alesi, Silvia Genovese, et al.
American Journal of Medical Genetics. Part A|May 31, 2019
A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndromeViola Alesi, Sara Loddo, Federica Calì, et al.
Stem Cell Research & Therapy|April 24, 2014
Human placenta-derived neurospheres are susceptible to transformation after extensive in vitro expansionDonatella Amendola, Marta Nardella, Loredana Guglielmi, et al.
American Journal of Medical Genetics. Part A|May 11, 2017
Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister-Killian syndromeViola Alesi, Maria L Dentici, Fabrizia Restaldi, et al.
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