All Stories

  1. Two intronic variants of CYP11B1 and CYP17A1 disrupt mRNA splicing and cause congenital adrenal hyperplasia (CAH)

    Article • Journal of Pediatric Endocrinology and Metabolism, July 2020, De Gruyter

    Professor YONGGUO YU

  2. Next-generation sequencing as a second-tier diagnostic test for newborn screening

    Article • Journal of Pediatric Endocrinology and Metabolism, July 2018, De Gruyter

    Professor YONGGUO YU

  3. Meta-Analysis of the Association between Vitamin D Receptor Polymorphisms and the Risk of Autoimmune Thyroid Disease

    Article • International Journal of Endocrinology, January 2018, Hindawi Publishing Corporation

    Professor YONGGUO YU

  4. Molecular defects identified by whole exome sequencing in a child with atypical mucopolysaccharidosis IIIB

    Article • Journal of Pediatric Endocrinology and Metabolism, January 2017, De Gruyter

    Professor YONGGUO YU

  5. Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome

    Article • American Journal of Medical Genetics Part A, October 2016, Wiley

    Professor YONGGUO YU

  6. Exonic deletions ofAUTS2in Chinese patients with developmental delay and intellectual disability

    Article • American Journal of Medical Genetics Part A, November 2015, Wiley

    Professor YONGGUO YU

  7. Diagnostic value of multiple café-au-lait macules for neurofibromatosis 1 in Chinese children

    Article • The Journal of Dermatology, October 2015, Wiley

    Professor YONGGUO YU