De Luca, Alessandro

Top Publications

Top Publications Authored or Co-Authored by "De Luca, Alessandro"

• 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
• Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome

  American Journal of Human Genetics, Volume 107, No. 5, Year 2020, Citations 42
• De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

  American Journal of Human Genetics, Volume 105, No. 3, Year 2019, Citations 34
• SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype

  American Journal of Human Genetics, Volume 108, No. 11, Year 2021, Citations 33
• Specific variants in WDR35 cause a distinctive form of ellis-van creveld syndrome by disrupting the recruitment of the evc complex and smo into the cilium

  Human Molecular Genetics, Volume 24, No. 14, Article ddv152, Year 2015, Citations 19