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Journal of Human Genetics|March 6, 2024
Combined exome and whole transcriptome sequencing identifies a de novo intronic SRCAP variant causing DEHMBA syndrome with severe sleep disorderSilvia Morlino, Lorenzo Vaccaro, Maria Pia Leone, et al.
American Journal of Medical Genetics. Part A|October 24, 2014
Nosology and inheritance pattern(s) of joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type: a study of intrafamilial and interfamilial variability in 23 Italian pedigreesMarco Castori, Chiara Dordoni, Michele Valiante, et al.
Genes|December 22, 2020
Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal DysplasiaLucia Micale, Silvia Morlino, Annalisa Schirizzi, et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology|December 4, 2017
Functional Characterization of a Novel Truncating Mutation in Lamin A/C Gene in a Family with a Severe Cardiomyopathy with Conduction DefectsAndrea Gerbino, Irene Bottillo, Serena Milano, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|February 7, 2015
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility typeMarco Castori, Chiara Dordoni, Silvia Morlino, et al.
Human Mutation|June 29, 2019
TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasisSilvia Morlino, Annalucia Carbone, Marco Ritelli, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|February 28, 2020
Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagyLucia Micale, Silvia Morlino, Tommaso Biagini, et al.
Molecular Genetics and Metabolism|May 27, 2026
A splice-altering intronic variant in two multiplex families refines autosomal recessive COG4-related congenital disorder of glycosylationLucia Micale, Luisa Sturiale, Federica Russo, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 24, 2016
Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxiaLorena Travaglini, Marta Nardella, Emanuele Bellacchio, et al.
Diagnostics (Basel, Switzerland)|June 26, 2026
Multisystemic Assessment in Andersen-Tawil Syndrome: Report of Eighteen IndividualsMaria Gnazzo, Giovanni Parlapiano, Silvia Morlino, et al.
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