Nataliya Di Donato

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Anita Rauch, Dagmar Wieczorek, Elisabeth Graf et al. · The Lancet · 2012 · 1.1K citations · Full text

Genetic Mutations, Mendelian Disorder, Genetic Disorder +7

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

Matthew A. Deardorff, Masashige Bando, Ryuichiro Nakato et al. · Nature · 2012 · 563 citations · Full text

Mendelian Disorder, Cohesin Acetylation Cycle, Genetic Disorder +8

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Lot Snijders Blok, Erik Madsen, Jane Juusola et al. · The American Journal of Human Genetics · 2015 · 324 citations · Full text

Unexplained Intellectual Disability, Gender-specific Effects, Mendelian Disorder +10

Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development

Silvia Cappello, Mary Jane Gray, Caroline Badouel et al. · Nature Genetics · 2013 · 276 citations

Molecular Neuroscience, Developmental Biology, Signaling Pathway +7

<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Konrad Platzer, Hongjie Yuan, Hannah M. Schutz et al. · Journal of Medical Genetics · 2017 · 249 citations · Full text