Vitobello, Antonio

Top Publications

Top Publications Authored or Co-Authored by "Vitobello, Antonio"

• BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

  European Journal of Human Genetics, Volume 31, No. 9, Year 2023, Citations 90
• Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

  American Journal of Human Genetics, Volume 104, No. 4, Year 2019, Citations 84
• 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
• An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

  American Journal of Human Genetics, Volume 109, No. 10, Year 2022, Citations 62
• Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

  Genetics in Medicine, Volume 24, No. 8, Year 2022, Citations 51