Nataliya Di Donato

Dresden, SN, Germany

Last Updated: 09/26/2026

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Found 97 publications

Multi-omics analysis in suspected hereditary breast and ovarian cancer cases reveals novel candidate susceptibility factors.

Multi-omics analysis in suspected hereditary breast and ovarian cancer cases reveals novel candidate susceptibility factors.

Journal: NPJ breast cancer

Published: May 06, 2026

Beyond in silico prediction: multi-omics to identify a pathogenic deep intronic HNRNPK variant in Au-Kline syndrome.

Beyond in silico prediction: multi-omics to identify a pathogenic deep intronic HNRNPK variant in Au-Kline syndrome.

Journal: Journal of human genetics

Published: April 30, 2026

Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders.

Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders.

Journal: Genome medicine

Published: November 04, 2025

Phenotypic spectrum of RNU4ATAC-related spliceosomopathies: four novel cases and integrated reevaluation of previously reported patients.

Phenotypic spectrum of RNU4ATAC-related spliceosomopathies: four novel cases and integrated reevaluation of previously reported patients.

Journal: Orphanet journal of rare diseases

Published: September 10, 2025

Improved functional JAG1 and NOTCH2 variant testing in patients with clinical or suspected Alagille syndrome using new low-Notch activity cells.

Improved functional JAG1 and NOTCH2 variant testing in patients with clinical or suspected Alagille syndrome using new low-Notch activity cells.

Journal: Human genetics

Published: August 19, 2025

Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies.

Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies.

Journal: American journal of human genetics

Published: July 17, 2025

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Journal: Nature genetics

Published: June 24, 2025

Tandem duplication and triplication in BRCA1: revisiting the large genomic rearrangements via optical genome mapping.

Tandem duplication and triplication in BRCA1: revisiting the large genomic rearrangements via optical genome mapping.

Journal: Cancer genetics

Published: May 28, 2025

Disruption of SETD3-mediated histidine-73 methylation by the BWCFF-associated β-actin G74S mutation.

Disruption of SETD3-mediated histidine-73 methylation by the BWCFF-associated β-actin G74S mutation.

Journal: FEBS letters

Published: April 11, 2025

Genomic variant profiling in blast-phase paediatric chronic myeloid leukaemia: Predisposing and driving alterations.

Genomic variant profiling in blast-phase paediatric chronic myeloid leukaemia: Predisposing and driving alterations.

Journal: British journal of haematology

Published: February 14, 2025

Prognostic impact of clonal representation of myelodysplasia-related gene mutations in acute myeloid leukemia.

Prognostic impact of clonal representation of myelodysplasia-related gene mutations in acute myeloid leukemia.

Journal: Leukemia

Published: December 23, 2024

Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.

Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.

Journal: American journal of medical genetics. Part A

Published: December 20, 2024

Showing 1-12 of 97

Last Updated: 09/26/2026