Bari&cacute, Ivo

Top Publications

Top Publications Authored or Co-Authored by "Bari&cacute, Ivo"

• Diversity of approaches to classic galactosemia around the world: A comparison of diagnosis, intervention, and outcomes

  Journal of Inherited Metabolic Disease, Volume 35, No. 6, Year 2012, Citations 74
• Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

  Genetics in Medicine, Volume 25, No. 6, Article 100314, Year 2023, Citations 61
• Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases

  Annals of Neurology, Volume 82, No. 6, Year 2017, Citations 58
• Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder

  Human Genetics, Volume 142, No. 7, Year 2023, Citations 50
• Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism

  Nature Genetics, Volume 54, No. 11, Year 2022, Citations 36