Lorenzo Vaccaro
3PUBLICATIONS
8CO-AUTHORS
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Publications (3)
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|Apr 30, 2025
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.Marco Castori, Sandra Mastroianno, Andrea Fontana
|Dec 12, 2024
Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies.Lucia Micale, Aikaterini Vourlia, Carmela Fusco
|Mar 06, 2024
Combined exome and whole transcriptome sequencing identifies a de novo intronic SRCAP variant causing DEHMBA syndrome with severe sleep disorder.Silvia Morlino, Lorenzo Vaccaro, Maria Pia Leone
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