Di Donato, Nataliya

Top Publications

Top Publications Authored or Co-Authored by "Di Donato, Nataliya"

• Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

  Genetics in Medicine, Volume 20, No. 11, Year 2018, Citations 90
• Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes

  Clinical Genetics, Volume 87, No. 3, Year 2015, Citations 50
• Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

  PLoS Genetics, Volume 13, No. 3, Article e1006683, Year 2017, Citations 46
• Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans

  American Journal of Human Genetics, Volume 110, No. 7, Year 2023, Citations 39
• International consensus recommendations on the diagnostic work-up for malformations of cortical development

  Nature Reviews Neurology, Volume 16, No. 11, Year 2020, Citations 27