sara bertuzzo

Recent Scopus Publications

1. Constitutional copy number amplifications: rare or under-evaluated? Revisiting a 25-year-old cold case
   European Journal of Human Genetics, 2025
2. Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders
   European Journal of Human Genetics, 2024
3. Case Report: Decrypting an interchromosomal insertion associated with Marfan’s syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants
   Frontiers in Genetics, 2023
4. Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndrome
   Molecular Cytogenetics, 2020
5. Assigning single clinical features to their disease-locus in large deletions: The example of chromosome 1q23-25 deletion syndrome
   Journal of Translational Genetics and Genomics, 2020

Links

• ORCID https://orcid.org/0000-0002-7166-2111
• Scopus https://www.scopus.com/authid/detail.uri?authorId=55924334000