Chien, Yinhsiu

Top Publications

Top Publications Authored or Co-Authored by "Chien, Yinhsiu"

• Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

  Genetics in Medicine, Volume 13, No. 3, Year 2011, Citations 303
• Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity

  Frontiers in Immunology, Volume 13, Article 883446, Year 2022, Citations 97
• Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go

  Neuromuscular Disorders, Volume 31, No. 6, Year 2021, Citations 75
• 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
• Family history of early infant death correlates with earlier age at diagnosis but not shorter time to diagnosis for severe combined immunodeficiency

  Frontiers in Immunology, Volume 8, No. JUL, Article 808, Year 2017, Citations 45