Valentina Favalli

Milan, 20122, Italy

Last Updated: 09/26/2026

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Found 47 publications

Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.

Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.

Journal: Genes

Published: September 11, 2025

PIK3CA mutation analysis in circulating tumor cells of patients with hormone receptor positive metastatic breast cancer.

PIK3CA mutation analysis in circulating tumor cells of patients with hormone receptor positive metastatic breast cancer.

Journal: Biochemistry and biophysics reports

Published: May 22, 2024

Assessing the efficacy of metacognitive therapy as monotherapy or adjunctive treatment in patient suffering from major depression and dysthimia: A comprehensive review of clinical trials.

Assessing the efficacy of metacognitive therapy as monotherapy or adjunctive treatment in patient suffering from major depression and dysthimia: A comprehensive review of clinical trials.

Journal: Journal of affective disorders

Published: May 17, 2024

Benchmarking and improving the performance of variant-calling pipelines with RecallME.

Benchmarking and improving the performance of variant-calling pipelines with RecallME.

Journal: Bioinformatics (Oxford, England)

Published: March 21, 2023

Interpretation and actionability of genetic variants in cardiomyopathies: a position statement from the European Society of Cardiology Council on cardiovascular genomics.

Interpretation and actionability of genetic variants in cardiomyopathies: a position statement from the European Society of Cardiology Council on cardiovascular genomics.

Journal: European heart journal

Published: June 22, 2021

Myths to debunk: the non-compacted myocardium.

Myths to debunk: the non-compacted myocardium.

Journal: European heart journal supplements : journal of the European Society of Cardiology

Published: March 03, 2021

A novel missense mutation for Fabry disease detected by echocardiographic screening in left ventricular hypertrophy patients.

A novel missense mutation for Fabry disease detected by echocardiographic screening in left ventricular hypertrophy patients.

Journal: Journal of cardiovascular medicine (Hagerstown, Md.)

Published: December 07, 2020

Machine learning-based reclassification of germline variants of unknown significance: The RENOVO algorithm.

Machine learning-based reclassification of germline variants of unknown significance: The RENOVO algorithm.

Journal: American journal of human genetics

Published: November 30, 2020

Hereditary muscle diseases and the heart: the cardiologist's perspective.

Hereditary muscle diseases and the heart: the cardiologist's perspective.

Journal: European heart journal supplements : journal of the European Society of Cardiology

Published: June 12, 2020

Pathologic substrate of gastropathy in Anderson-Fabry disease.

Pathologic substrate of gastropathy in Anderson-Fabry disease.

Journal: Orphanet journal of rare diseases

Published: March 13, 2020

Correction: Age-specific reference values for carotid arterial stiffness estimated by ultrasonic wall tracking.

Correction: Age-specific reference values for carotid arterial stiffness estimated by ultrasonic wall tracking.

Journal: Journal of human hypertension

Published: February 01, 2020

Renal and brain complications in GLA p.Phe113Leu Fabry disease. Comments on "Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males" by Oliveira et al. (Eur. J. Med. Genet. 2019).

Renal and brain complications in GLA p.Phe113Leu Fabry disease. Comments on "Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males" by Oliveira et al. (Eur. J. Med. Genet. 2019).

Journal: European journal of medical genetics

Published: October 24, 2019

Showing 1-12 of 47

Last Updated: 09/26/2026