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Annals of Laboratory Medicine|October 2, 2024
Reanalysis of Next-generation Sequencing Data in Patients With Hypertrophic Cardiomyopathy: Contribution of Spliceogenic <i>MYBPC3</i> Variants in an Italian CohortSilvia Caroselli, Marco Fabiani, Caterina Micolonghi, et al.
Plos Pathogens|March 15, 2019
Recurrent herpes simplex virus-1 infection induces hallmarks of neurodegeneration and cognitive deficits in miceGiovanna De Chiara, Roberto Piacentini, Marco Fabiani, et al.
Molecular Genetics and Metabolism Reports|September 4, 2023
The role of genetic testing in suspected fulminant myocarditis: A case reportRaffaella Mistrulli, Caterina Micolonghi, Federico Follesa, et al.
Current Issues in Molecular Biology|March 28, 2023
A Novel Nonsense Pathogenic <i>TTN</i> Variant Identified in a Patient with Severe Dilated CardiomyopathyCaterina Micolonghi, Marco Fabiani, Erika Pagannone, et al.
Human Mutation|December 8, 2025
Reclassification of VUS Using ACMG/AMP Criteria Adapted for Sarcomeric Genes Related to Hypertrophic Cardiomyopathy: Resolution Rate and ConsiderationsSilvia Caroselli, Giulia Corona, Marco Fabiani, et al.
Journal of Assisted Reproduction and Genetics|December 18, 2024
Uniparental disomy (UPD) exclusion in embryos following Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR)Marco Fabiani, Katia Margiotti, Francesco Libotte, et al.
Diagnostics (Basel, Switzerland)|November 11, 2022
A New <i>SMAD4</i> Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis SyndromeCaterina Micolonghi, Maria Piane, Aldo Germani, et al.
International Journal of Molecular Sciences|August 12, 2023
Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type IIFlaviana Marzano, Matteo Chiara, Arianna Consiglio, et al.
Frontiers in Cardiovascular Medicine|April 24, 2023
Long QTc in hypertrophic cardiomyopathy: A consequence of structural myocardial damage or a distinct genetic disease?Francesco Cava, Caterina Micolonghi, Maria Beatrice Musumeci, et al.
Diagnostics (Basel, Switzerland)|December 23, 2022
Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?Salvatore Sciacchitano, Gian Paolo De Francesco, Maria Piane, et al.
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