Accogli, Andrea

Top Publications

Top Publications Authored or Co-Authored by "Accogli, Andrea"

• 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
• Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder

  Genetics in Medicine, Volume 25, No. 11, Article 100938, Year 2023, Citations 59
• Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder

  Human Genetics, Volume 142, No. 7, Year 2023, Citations 50
• Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

  Nature Communications, Volume 10, No. 1, Article 707, Year 2019, Citations 29
• Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features

  European Journal of Human Genetics, Volume 29, No. 8, Year 2021, Citations 17