ND
Nataliya Di Donato
Medizinische Hochschule Hannover
Research areas: Biochemistry, Genetics and Molecular Biology · Genetics · Genomics and Rare Diseases · Genetics and Neurodevelopmental Disorders · Genomic variations and chromosomal abnormalities
0000-0001-9439-4677
Employment
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Medizinische Hochschule Hannover Director2023 - Present
Education
Education history is unavailable.
Projects & Funding
Projects & funding information is unavailable.
Publications (93)
- Generation of diseased and isogenic control human induced pluripotent stem cell lines MHHi043-A & MHHi043-B from a female Fabry disease patient carrying c.644A > G missense mutation Save
- Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies Save
- Multiscale characterization of Caenorhabditis elegans mutants to probe functional mechanisms of human actin pathological variants Save
- Current genetic diagnostics in inborn errors of immunity Save
- The non–muscle actinopathy–associated mutation E334Q in cytoskeletal γ– actin perturbs interaction of actin filaments with myosin and ADF/cofilin family proteins Save
- The non–muscle actinopathy–associated mutation E334Q in cytoskeletal γ– actin perturbs interaction of actin filaments with myosin and ADF/cofilin family proteins Save
- Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans. Save
- The constitutional gain‐of‐function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome Save
- Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders. Save
- Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes. Save
- Generation of iPSC lines from CPVT patient carrying heterozygous mutation p.A2254V in the ryanodine receptor 2 gene. Save
- Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay. Save
- Congenital hiatal hernia segregating with a duplication in 9q22.31q22.32 in two families Save
- Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes. Save
- International consensus recommendations on the diagnostic work-up for malformations of cortical development. Save
- The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification. Save
- Novel dominant-negative NR2F1 frameshift mutation and a phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome. Save
- Dermatological signs lead to discovery of mosaic ACTB variants in segmental odonto-maxillary dysplasia. Save
- Genetic and genomic studies of pathogenic EXOSC2 mutations in the newly described disease SHRF implicate the autophagy pathway in disease pathogenesis. Save
- Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development. Save