Botto, Lorenzo D.

Top Publications

Top Publications Authored or Co-Authored by "Botto, Lorenzo D."

• A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

  Genetics in Medicine, Volume 24, No. 7, Year 2022, Citations 100
• Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

  npj Genomic Medicine, Volume 8, No. 1, Article 4, Year 2023, Citations 100
• Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

  Brain, Volume 143, No. 8, Year 2020, Citations 100
• Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

  American Journal of Human Genetics, Volume 99, No. 3, Year 2016, Citations 75
• Global birth defects app: An innovative tool for describing and coding congenital anomalies at birth in low resource settings

  Birth Defects Research, Volume 113, No. 14, Year 2021, Citations 17