Gladys Ho
The University of Sydney(AU)Children's Hospital at Westmead(AU)Sydney Children’s Hospitals Network(AU)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Metabolism and Genetic Disorders, Genomic variations and chromosomal abnormalities, Mitochondrial Function and Pathology
Most-Cited Works
- → The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy(2012)310 cited
- → Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic Mechanisms(2018)195 cited
- → RettBASE: Rett syndrome database update(2017)156 cited
- → Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next‐Generation Sequencing(2015)135 cited
- → Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B(2010)120 cited
- → Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants(2021)103 cited