Angela Peron
Florence, Italy
Last Updated: 09/26/2026
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Found 82 publications
Generation of a human-induced pluripotent stem cell (hiPSC) line as a cellular model of Fabry disease from a patient carrying the p.A143T variant in the GLA gene (AOUMEYi005-A).
Journal: Stem cell research
Published: May 18, 2026
Long-read genome sequencing resolves the breakpoints of a chromosome 8;22 balanced translocation in NF2-related schwannomatosis.
Journal: Scientific reports
Published: October 31, 2025
Marked hepatic fibrosis with progression towards cirrhosis in generalized arterial calcification of infancy: an unreported association observed in a case carryng a novel ENPP1 variant.
Journal: Pathologica
Published: August 26, 2025
Genotypes and Phenotypes of Patients With TSPEAR-Related Disorder: Evidence of a Predominant Dental Phenotype.
Journal: American journal of medical genetics. Part A
Published: August 05, 2025
Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review.
Journal: American journal of medical genetics. Part A
Published: July 31, 2025
9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms.
Journal: American journal of medical genetics. Part A
Published: July 26, 2025
The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood.
Journal: American journal of medical genetics. Part A
Published: June 23, 2025
Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.
Journal: Genetics in medicine open
Published: May 05, 2025
The European Certificate in Medical Genetics and Genomics (ECMGG).
Journal: European journal of human genetics : EJHG
Published: December 31, 2024
Last Updated: 09/26/2026