Giuseppe Zampino

Rome, 00168, Italy

Last Updated: 09/26/2026

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Found 215 publications

A Clinical Genetics-Driven Dual Diagnosis of Prader-Willi Syndrome Due to Mosaic Maternal UPD(15) and NOTCH3-Related CADASIL.

A Clinical Genetics-Driven Dual Diagnosis of Prader-Willi Syndrome Due to Mosaic Maternal UPD(15) and NOTCH3-Related CADASIL.

Journal: Genes

Published: July 10, 2026

Correction: Understanding the burden of endocrine and metabolic disorders in Prader-Willi syndrome: data from the Italian registry.

Correction: Understanding the burden of endocrine and metabolic disorders in Prader-Willi syndrome: data from the Italian registry.

Journal: Journal of endocrinological investigation

Published: April 28, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: American journal of human genetics

Published: February 15, 2026

Understanding the burden of endocrine and metabolic disorders in Prader-Willi syndrome: data from the Italian registry.

Understanding the burden of endocrine and metabolic disorders in Prader-Willi syndrome: data from the Italian registry.

Journal: Journal of endocrinological investigation

Published: November 23, 2025

Muscle ultrasonography in costello syndrome: unveiling new clinical insights of a complex muscular phenotype.

Muscle ultrasonography in costello syndrome: unveiling new clinical insights of a complex muscular phenotype.

Journal: Orphanet journal of rare diseases

Published: November 21, 2025

UBTF Haploinsufficiency-Related Disorder: Report of a New Case Series and Definition of the Facial Gestalt.

UBTF Haploinsufficiency-Related Disorder: Report of a New Case Series and Definition of the Facial Gestalt.

Journal: Clinical genetics

Published: November 14, 2025

Urinary Multi-Omics Profiling Reveals Systemic Molecular Alterations in Progressive External Ophthalmoplegia.

Urinary Multi-Omics Profiling Reveals Systemic Molecular Alterations in Progressive External Ophthalmoplegia.

Journal: International journal of molecular sciences

Published: October 14, 2025

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 01, 2025

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 01, 2025

Domain-specific phenotypic profiles in RAF1-related Noonan syndrome.

Domain-specific phenotypic profiles in RAF1-related Noonan syndrome.

Journal: European journal of human genetics : EJHG

Published: September 23, 2025

Showing 1-12 of 215

Last Updated: 09/26/2026