Nataliya Di Donato
Medizinische Hochschule Hannover(DE)University Hospital Carl Gustav Carus(DE)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, RNA Research and Splicing, Cellular Mechanics and Interactions
Most-Cited Works
- → Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study(2012)1,063 cited
- → HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle(2012)568 cited
- → Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling(2015)330 cited
- → Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development(2013)281 cited
- → GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects(2017)252 cited
- → Diagnostic approach to microcephaly in childhood: a two‐center study and review of the literature(2014)224 cited