Anne Chun-Hui Tsai
Children's Hospital Colorado(US)University of Colorado Anschutz Medical Campus(US)University of Colorado Denver(US)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Chromosomal and Genetic Variations, Lysosomal Storage Disorders Research, Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Chinese hamster ovary cell-derived recombinant human acid α-glucosidase in infantile-onset Pompe disease(2006)283 cited
- → Characterization of pre- and post-treatment pathology after enzyme replacement therapy for pompe disease(2006)250 cited
- → Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome(2012)240 cited
- → Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway(2019)176 cited
- → Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations(2010)128 cited
- → Male With Mosaicism for Supernumerary Ring X Chromosome(2010)78 cited
- → De novo isodicentric X chromosome: 46,X,idic(X)(q24), and summary of literature