Laura Fontana

Milan, 20153, Italy

Last Updated: 09/26/2026

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Found 61 publications

Lost in .*VCF Translation. From Data Fragmentation to Precision Genomics: Technical, Ethical, and Interpretive Challenges in the Post-Sequencing Era.

Lost in .*VCF Translation. From Data Fragmentation to Precision Genomics: Technical, Ethical, and Interpretive Challenges in the Post-Sequencing Era.

Journal: Journal of personalized medicine

Published: June 04, 2025

Metabolic reprogramming and altered ATP content impair neuroprotective functions of microglia in β-glucocerebrosidase deficiency models.

Metabolic reprogramming and altered ATP content impair neuroprotective functions of microglia in β-glucocerebrosidase deficiency models.

Journal: Journal of neuroinflammation

Published: May 30, 2025

High-phosphate causes endothelial extracellular matrix calcification by inducing endothelial cell mesenchymal transition and osteoblastic differentiation.

High-phosphate causes endothelial extracellular matrix calcification by inducing endothelial cell mesenchymal transition and osteoblastic differentiation.

Journal: American journal of physiology. Renal physiology

Published: May 06, 2025

Correction to: A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity.

Correction to: A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity.

Journal: Genes & genomics

Published: January 27, 2025

In Vitro Validation of Pulsed Electromagnetic Field (PEMF) as an Effective Countermeasure Against Inflammatory-Mediated Intervertebral Disc Degeneration.

In Vitro Validation of Pulsed Electromagnetic Field (PEMF) as an Effective Countermeasure Against Inflammatory-Mediated Intervertebral Disc Degeneration.

Journal: JOR spine

Published: August 02, 2024

A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity.

A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity.

Journal: Genes & genomics

Published: July 08, 2024

Exploring the Impact of Genetics in a Large Cohort of Moebius Patients by Trio Whole Exome Sequencing.

Exploring the Impact of Genetics in a Large Cohort of Moebius Patients by Trio Whole Exome Sequencing.

Journal: Genes

Published: July 03, 2024

Pharmacogenetics in Italy: current landscape and future prospects.

Pharmacogenetics in Italy: current landscape and future prospects.

Journal: Human genomics

Published: February 24, 2024

Dysfunction in IGF2R Pathway and Associated Perturbations in Autophagy and WNT Processes in Beckwith-Wiedemann Syndrome Cell Lines.

Dysfunction in IGF2R Pathway and Associated Perturbations in Autophagy and WNT Processes in Beckwith-Wiedemann Syndrome Cell Lines.

Journal: International journal of molecular sciences

Published: January 31, 2024

Testing calpain inhibition in tumor endothelial cells: novel targetable biomarkers against glioblastoma malignancy.

Testing calpain inhibition in tumor endothelial cells: novel targetable biomarkers against glioblastoma malignancy.

Journal: Frontiers in oncology

Published: December 13, 2023

Non-invasive biomarkers for sperm retrieval in non-obstructive patients: a comprehensive review.

Non-invasive biomarkers for sperm retrieval in non-obstructive patients: a comprehensive review.

Journal: Frontiers in endocrinology

Published: December 03, 2023

Case report: Chorea and cognitive decline in a young woman: instrumental and genetic assessment of a case originally diagnosed as multiple sclerosis.

Case report: Chorea and cognitive decline in a young woman: instrumental and genetic assessment of a case originally diagnosed as multiple sclerosis.

Journal: Frontiers in genetics

Published: December 29, 2022

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Last Updated: 09/26/2026