Laura Pezzoli

Bergamo, Italy

Last Updated: 09/26/2026

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Found 46 publications

Beyond Rett syndrome: a case series expanding the neurological spectrum associated with pathogenic MECP2 variants.

Beyond Rett syndrome: a case series expanding the neurological spectrum associated with pathogenic MECP2 variants.

Journal: Journal of neurology

Published: June 15, 2026

Clinical, Transcriptional and Haplotype Characterization of Recurrent MYBPC3 Splice-Site Variants c.1458-1G>A and c.3331-1G>A Associated with Hypertrophic Cardiomyopathy in Northern Italy.

Clinical, Transcriptional and Haplotype Characterization of Recurrent MYBPC3 Splice-Site Variants c.1458-1G>A and c.3331-1G>A Associated with Hypertrophic Cardiomyopathy in Northern Italy.

Journal: Genes

Published: May 28, 2026

Prenatal Exome Sequencing: When Does Diagnostic Yield Meet Clinical Utility?

Prenatal Exome Sequencing: When Does Diagnostic Yield Meet Clinical Utility?

Journal: Genes

Published: November 14, 2025

Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies-30 Years' Experience From a Third Level Center.

Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies-30 Years' Experience From a Third Level Center.

Journal: Clinical genetics

Published: August 06, 2025

Keeping up the beat of Kleefstra syndrome.

Keeping up the beat of Kleefstra syndrome.

Journal: Italian journal of pediatrics

Published: May 14, 2025

Further Exploring the TRRAP Genotype-Phenotype Correlations: Report of Three New Patients With A Focus on Skeletal Anomalies.

Further Exploring the TRRAP Genotype-Phenotype Correlations: Report of Three New Patients With A Focus on Skeletal Anomalies.

Journal: Clinical genetics

Published: April 01, 2025

First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases.

First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases.

Journal: Clinical genetics

Published: February 21, 2025

Whole Blood Multi-OMIC Analysis Is Effective in Clinical Interpretation of Splicing Aberrations in PLOD1 -Related Kyphoscoliotic Ehlers-Danlos Syndrome.

Whole Blood Multi-OMIC Analysis Is Effective in Clinical Interpretation of Splicing Aberrations in PLOD1 -Related Kyphoscoliotic Ehlers-Danlos Syndrome.

Journal: American journal of medical genetics. Part A

Published: January 31, 2025

MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patients.

MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patients.

Journal: European journal of human genetics : EJHG

Published: December 31, 2024

Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter.

Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter.

Journal: Orphanet journal of rare diseases

Published: November 15, 2024

Coagulation Dysfunction Caused by a De Novo Mutation of Gene SLC37A4.

Coagulation Dysfunction Caused by a De Novo Mutation of Gene SLC37A4.

Journal: Pediatric blood & cancer

Published: October 26, 2024

Looks Can Be Deceiving: Diagnostic Power of Exome Sequencing in Debunking 15q11.2 Copy Number Variations.

Looks Can Be Deceiving: Diagnostic Power of Exome Sequencing in Debunking 15q11.2 Copy Number Variations.

Journal: Genes

Published: October 11, 2024

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Last Updated: 09/26/2026