Margherita Scarpato
Naples, Italy
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 18 publications
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.
Journal: Nature genetics
Published: June 02, 2025
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes.
Journal: Neurology. Genetics
Published: March 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
Journal: medRxiv : the preprint server for health sciences
Published: January 20, 2025
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome.
Journal: American journal of medical genetics. Part A
Published: November 20, 2024
A Novel Variant in TUBB4B Causes Progressive Cone-Rod Dystrophy and Early Onset Sensorineural Hearing Loss.
Journal: Molecular genetics & genomic medicine
Published: August 29, 2024
Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.
Journal: European journal of human genetics : EJHG
Published: May 02, 2024
Internal ribosome entry sites enhance translation in trans in antisense non-coding SINEUP and circular RNAs.
Journal: Nucleic acids research
Published: March 18, 2024
Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndrome.
Journal: American journal of medical genetics. Part A
Published: September 27, 2023
Piwil2 (Mili) sustains neurogenesis and prevents cellular senescence in the postnatal hippocampus.
Journal: EMBO reports
Published: August 12, 2021
Exploratory analysis of transposable elements expression in the C. elegans early embryo.
Journal: BMC bioinformatics
Published: August 22, 2019
Last Updated: 09/26/2026