Serena Cappato

Genoa, Italy

Last Updated: 09/26/2026

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Found 21 publications

Missense but mis-spliced: germline TP53 variant c.671A > C (p.E224A) and the path from uncertainty to pathogenicity.

Missense but mis-spliced: germline TP53 variant c.671A > C (p.E224A) and the path from uncertainty to pathogenicity.

Journal: Scientific reports

Published: March 09, 2026

Deciphering Silence: Functional Studies of GCK Synonymous and Nonsense Variants and Their Importance in Understanding Diabetes.

Deciphering Silence: Functional Studies of GCK Synonymous and Nonsense Variants and Their Importance in Understanding Diabetes.

Journal: Genes

Published: December 04, 2025

Alternative splicing and residual function potentially expand the therapeutic landscape of the CFTRdele2ins182 variant.

Alternative splicing and residual function potentially expand the therapeutic landscape of the CFTRdele2ins182 variant.

Journal: PloS one

Published: July 09, 2025

Chromosomal Deletion Involving ANKRD26 Leads to Expression of a Fusion Protein Responsible for ANKRD26-Related Thrombocytopenia.

Chromosomal Deletion Involving ANKRD26 Leads to Expression of a Fusion Protein Responsible for ANKRD26-Related Thrombocytopenia.

Journal: International journal of molecular sciences

Published: June 17, 2025

Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT).

Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT).

Journal: Molecular genetics & genomic medicine

Published: March 17, 2025

Case Report: Beyond type 1 diabetes: a case of delayed MODY1 diagnosis and successful transition to sulfonylurea therapy.

Case Report: Beyond type 1 diabetes: a case of delayed MODY1 diagnosis and successful transition to sulfonylurea therapy.

Journal: Frontiers in medicine

Published: March 10, 2025

A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications.

A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications.

Journal: European journal of human genetics : EJHG

Published: September 06, 2024

Interplay between ALK2R206H mutant receptor and autophagy signaling regulates receptor stability and its chondrogenic functions.

Interplay between ALK2R206H mutant receptor and autophagy signaling regulates receptor stability and its chondrogenic functions.

Journal: Cell death discovery

Published: August 08, 2024

LMX1B haploinsufficiency due to variants in the 5'UTR as a cause of Nail-Patella syndrome.

LMX1B haploinsufficiency due to variants in the 5'UTR as a cause of Nail-Patella syndrome.

Journal: NPJ genomic medicine

Published: July 23, 2024

Antisense oligonucleotides as a precision therapy for developmental and epileptic encephalopathies.

Antisense oligonucleotides as a precision therapy for developmental and epileptic encephalopathies.

Journal: CNS neuroscience & therapeutics

Published: February 27, 2024

A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene.

A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene.

Journal: Molecular genetics & genomic medicine

Published: May 19, 2021

Genetic and Acquired Heterotopic Ossification: A Translational Tale of Mice and Men.

Genetic and Acquired Heterotopic Ossification: A Translational Tale of Mice and Men.

Journal: Biomedicines

Published: November 27, 2020

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Last Updated: 09/26/2026