Simone Pizzi

Perugia, 06128, Italy

Last Updated: 09/26/2026

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Found 72 publications

Unveiling the genetic blueprint of verbascoside biosynthesis in Olea europaea: an integrative metabolomics, genetics and transcriptomics approach.

Unveiling the genetic blueprint of verbascoside biosynthesis in Olea europaea: an integrative metabolomics, genetics and transcriptomics approach.

Journal: Horticulture research
Published: December 17, 2025

MicroRNAs Expression Profile in MN1-Altered Astroblastoma.

MicroRNAs Expression Profile in MN1-Altered Astroblastoma.

Journal: Biomedicines
Published: December 13, 2024

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.

Journal: European journal of human genetics : EJHG
Published: January 26, 2024

BCL11B-Related Dystonia: Further Evidence of an Emerging Cause of Childhood-Onset Generalized Dystonia.

BCL11B-Related Dystonia: Further Evidence of an Emerging Cause of Childhood-Onset Generalized Dystonia.

Journal: Movement disorders clinical practice
Published: December 19, 2023

Evaluating cell culture reliability in pediatric brain tumor primary cells through DNA methylation profiling.

Evaluating cell culture reliability in pediatric brain tumor primary cells through DNA methylation profiling.

Journal: NPJ precision oncology
Published: November 14, 2023

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.

Journal: American journal of human genetics
Published: November 09, 2023

Biallelic Variants of MRPS36 Cause a New Form of Leigh Syndrome.

Biallelic Variants of MRPS36 Cause a New Form of Leigh Syndrome.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: November 08, 2023

RAF1 gene fusions are recurrent driver events in infantile fibrosarcoma-like mesenchymal tumors.

RAF1 gene fusions are recurrent driver events in infantile fibrosarcoma-like mesenchymal tumors.

Journal: The Journal of pathology
Published: November 08, 2023

A case of T-cell acute lymphoblastic leukemia in retroviral gene therapy for ADA-SCID.

A case of T-cell acute lymphoblastic leukemia in retroviral gene therapy for ADA-SCID.

Journal: Nature communications
Published: October 13, 2023

Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.

Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.

Journal: American journal of human genetics
Published: September 13, 2023

Germline bi-allelic SH2B3/LNK alteration predisposes to a neonatal juvenile myelomonocytic leukemia-like disorder.

Germline bi-allelic SH2B3/LNK alteration predisposes to a neonatal juvenile myelomonocytic leukemia-like disorder.

Journal: Haematologica
Published: July 13, 2023

Identification of a robust DNA methylation signature for Fanconi anemia.

Identification of a robust DNA methylation signature for Fanconi anemia.

Journal: American journal of human genetics
Published: June 29, 2023
Showing 1-12 of 72

Last Updated: 09/26/2026