Rossella Tita
Siena, Italy
Last Updated: 09/26/2026
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Found 25 publications
Validation of the NovaSeq6000 platform and automated library preparation for CE-IVD equivalence.
Journal: Computational and structural biotechnology journal
Published: August 28, 2025
Correction: Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant.
Journal: European journal of human genetics : EJHG
Published: November 26, 2024
AUTS2-related syndrome: Insights from a large European cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 28, 2024
Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant.
Journal: European journal of human genetics : EJHG
Published: May 07, 2024
Correction to: High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot.
Journal: European journal of human genetics : EJHG
Published: February 02, 2023
Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells.
Journal: European journal of human genetics : EJHG
Published: January 18, 2023
Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study).
Journal: Prenatal diagnosis
Published: August 05, 2022
New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing.
Journal: International journal of molecular sciences
Published: November 29, 2021
Identification of a Novel Pathogenic Variant in the NAGLU Gene in a Child with Neurodevelopmental Delay.
Journal: Journal of autism and developmental disorders
Published: October 15, 2021
Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes
Journal: Frontiers in oncology
Published: January 04, 2021
Last Updated: 09/26/2026