Angela Peron

34PUBLICATIONS
165CO-AUTHORS
Cancer geneticsNeurology and neuromuscular diseasesDental therapeutics, pharmacology and toxicologyNeurogeneticsEducation assessment and evaluation
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Publications (34)

|May 03, 2026
The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood.

|Dec 18, 2025
Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review.

Elizabeth A VanSickle, Sara M Sarasua, Tracy Lowe

|Nov 06, 2025
Genotypes and Phenotypes of Patients With TSPEAR-Related Disorder: Evidence of a Predominant Dental Phenotype.

Debora Vergani, Lucia Tiberi, Annarita Giliberti

|Oct 10, 2025
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder.

Maggie M K Wong, Rosalie A Kampen, Ruth O Braden

|Jul 02, 2025
The European Certificate in Medical Genetics and Genomics (ECMGG).

Peter D Turnpenny, Laura Pölsler, Ute Moog

|Jan 27, 2025
Correction to: A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity.

Giada Moresco, Ornella Rondinone, Alessia Mauri

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Frequent Collaborators

9 joint publications

Aglaia Vignoli

3 joint publications

Maria Iascone

3 joint publications

Lidia Larizza

2 joint publications

Silvia Russo