Pilz, Daniela T.

Top Publications

Top Publications Authored or Co-Authored by "Pilz, Daniela T."

• The Cockayne Syndrome Natural History (CoSyNH) study: Clinical findings in 102 individuals and recommendations for care

  Genetics in Medicine, Volume 18, No. 5, Year 2016, Citations 128
• Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria

  American Journal of Human Genetics, Volume 87, No. 3, Year 2010, Citations 121
• EPG5-related Vici syndrome: A paradigm of neurodevelopmental disorders with defective autophagy

  Brain, Volume 139, No. 3, Year 2016, Citations 100
• The phenotype of Floating-Harbor syndrome: Clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

  Orphanet Journal of Rare Diseases, Volume 8, No. 1, Article 63, Year 2013, Citations 68
• TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities

  American Journal of Human Genetics, Volume 105, No. 6, Year 2019, Citations 49