Daniela F. Giachino

Orbassano, Italy

Last Updated: 09/26/2026

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Found 47 publications

Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics.

Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics.

Journal: Journal of medical genetics
Published: April 17, 2026

Changes in attitudes towards prenatal diagnosis for haemoglobinopathies: a 40-year retrospective observational study in Northern Italy.

Changes in attitudes towards prenatal diagnosis for haemoglobinopathies: a 40-year retrospective observational study in Northern Italy.

Journal: BMJ open
Published: December 08, 2025

Genetics of kidney stones and the role of genetic testing in prevention: a guide for urologists.

Genetics of kidney stones and the role of genetic testing in prevention: a guide for urologists.

Journal: Frontiers in medicine
Published: May 27, 2025

Plasma Glycolate Levels Contribute to Drive the Decision of Isolated Kidney Transplantation in Dialyzed Patients with End-Stage Kidney Disease due to Primary Hyperoxaluria Type 1 Treated with Lumasiran: A Case Report.

Plasma Glycolate Levels Contribute to Drive the Decision of Isolated Kidney Transplantation in Dialyzed Patients with End-Stage Kidney Disease due to Primary Hyperoxaluria Type 1 Treated with Lumasiran: A Case Report.

Journal: Case reports in nephrology and dialysis
Published: February 04, 2025

Multi-OMICs analysis on tridimensional fibroblast spheroids to model vascular Ehlers-Danlos syndrome pathogenesis.

Multi-OMICs analysis on tridimensional fibroblast spheroids to model vascular Ehlers-Danlos syndrome pathogenesis.

Journal: Biochimica et biophysica acta. Molecular basis of disease
Published: January 09, 2025

A case series of non-small cell lung cancer patients with EGFR or HER2 exon 20 insertion in Li Fraumeni syndrome.

A case series of non-small cell lung cancer patients with EGFR or HER2 exon 20 insertion in Li Fraumeni syndrome.

Journal: Tumori
Published: May 23, 2024

Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management.

Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management.

Journal: Cancer medicine
Published: February 23, 2024

A clinical screening algorithm for primary hyperoxaluria type 1 in adults on dialysis.

A clinical screening algorithm for primary hyperoxaluria type 1 in adults on dialysis.

Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
Published: June 22, 2023

Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.

Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.

Journal: Human genetics
Published: February 13, 2023

Gingival Overgrowths Revealing PTEN Hamartoma Tumor Syndrome: Report of Novel PTEN Pathogenic Variants.

Gingival Overgrowths Revealing PTEN Hamartoma Tumor Syndrome: Report of Novel PTEN Pathogenic Variants.

Journal: Biomedicines
Published: November 17, 2022

Diagnostics of BAP1-Tumor Predisposition Syndrome by a Multitesting Approach: A Ten-Year-Long Experience.

Diagnostics of BAP1-Tumor Predisposition Syndrome by a Multitesting Approach: A Ten-Year-Long Experience.

Journal: Diagnostics (Basel, Switzerland)
Published: May 09, 2022

Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.

Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.

Journal: Nature genetics
Published: April 27, 2022
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Last Updated: 09/26/2026