Tartaglia, Marco

Top Publications

Top Publications Authored or Co-Authored by "Tartaglia, Marco"

• Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

  Nature Communications, Volume 11, No. 1, Article 595, Year 2020, Citations 85
• Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

  American Journal of Human Genetics, Volume 109, No. 10, Year 2022, Citations 63
• Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

  American Journal of Human Genetics, Volume 105, No. 3, Year 2019, Citations 60
• Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

  Genetics in Medicine, Volume 25, No. 1, Year 2023, Citations 59
• Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

  Clinical Genetics, Volume 102, No. 2, Year 2022, Citations 57