Pons, Roser Maria

Top Publications

Top Publications Authored or Co-Authored by "Pons, Roser Maria"

• Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

  Human Mutation, Volume 31, No. 5, Year 2010, Citations 95
• Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

  European Journal of Human Genetics, Volume 21, No. 10, Year 2013, Citations 72
• Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes

  Molecular Genetics and Metabolism, Volume 139, No. 3, Article 107624, Year 2023, Citations 50
• Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease

  European Journal of Medical Genetics, Volume 65, No. 8, Article 104537, Year 2022, Citations 18