Gianpiero L. Cavalleri

St. Stephen's Green
Dublin, L, Ireland

Last Updated: 09/26/2026

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Found 141 publications

Comprehensive classification of HCN1 variants linked to neurodevelopmental disorders with and without epilepsy.

Comprehensive classification of HCN1 variants linked to neurodevelopmental disorders with and without epilepsy.

Journal: bioRxiv : the preprint server for biology

Published: March 27, 2026

Long-Read Sequencing of the MUC1 VNTR: Genomic Variation, Mutational Landscape, and Its Impact on ADTKD Diagnosis and Progression.

Long-Read Sequencing of the MUC1 VNTR: Genomic Variation, Mutational Landscape, and Its Impact on ADTKD Diagnosis and Progression.

Journal: bioRxiv : the preprint server for biology

Published: September 26, 2025

Single-Molecule Real-Time Sequencing for MUC1 VNTR Variation to Improve Autosomal Dominant Tubulointerstitial Kidney Disease Diagnosis.

Single-Molecule Real-Time Sequencing for MUC1 VNTR Variation to Improve Autosomal Dominant Tubulointerstitial Kidney Disease Diagnosis.

Journal: Journal of the American Society of Nephrology : JASN

Published: August 27, 2025

Single-Molecule Real-Time Sequencing for MUC1 Variable Number of Tandem Repeat Variation to Improve Autosomal Dominant Tubulointerstitial Kidney Disease Diagnosis.

Single-Molecule Real-Time Sequencing for MUC1 Variable Number of Tandem Repeat Variation to Improve Autosomal Dominant Tubulointerstitial Kidney Disease Diagnosis.

Journal: Journal of the American Society of Nephrology : JASN

Published: August 27, 2025

Changes in Gray Matter Morphology and White Matter Microstructure Across the Adult Lifespan in People With Temporal Lobe Epilepsy.

Changes in Gray Matter Morphology and White Matter Microstructure Across the Adult Lifespan in People With Temporal Lobe Epilepsy.

Journal: Neurology

Published: August 22, 2025

An NGS-based investigation of copy number variants in the diagnosis and severity of adult polycystic kidney disease.

An NGS-based investigation of copy number variants in the diagnosis and severity of adult polycystic kidney disease.

Journal: European journal of human genetics : EJHG

Published: July 07, 2025

Genetic ancestry and monogenic disease risk in the Scottish Traveller founder population.

Genetic ancestry and monogenic disease risk in the Scottish Traveller founder population.

Journal: Nature communications

Published: May 16, 2025

Adaptive PRKAA1 variant in Andeans is associated with improved ventilation and sleep phenotypes.

Adaptive PRKAA1 variant in Andeans is associated with improved ventilation and sleep phenotypes.

Journal: iScience

Published: January 15, 2025

Donor and Recipient Polygenic Risk Scores Influence Kidney Transplant Function.

Donor and Recipient Polygenic Risk Scores Influence Kidney Transplant Function.

Journal: Transplant international : official journal of the European Society for Organ Transplantation

Published: December 06, 2024

Characterization of Monogenic Kidney Disease in Older Patients With CKD.

Characterization of Monogenic Kidney Disease in Older Patients With CKD.

Journal: Kidney international reports

Published: November 11, 2024

The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease.

The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease.

Journal: Journal of nephrology

Published: October 09, 2024

Response to "Understanding Familial Variability in ADPKD: a Comprehensive Approach Integrating Genetics, Hormones, and Lifestyle for Tailored Management".

Response to "Understanding Familial Variability in ADPKD: a Comprehensive Approach Integrating Genetics, Hormones, and Lifestyle for Tailored Management".

Journal: Kidney international reports

Published: October 08, 2024

Showing 1-12 of 141

Last Updated: 09/26/2026