Stephanie Ho
Hong Kong Adventist Hospital(CN)Kowloon Hospital(CN)Duchess of Kent Children's Hospital(CN)
Publications by Year
Research Areas
Genomics and Rare Diseases, Cystic Fibrosis Research Advances, Genomic variations and chromosomal abnormalities, Neonatal Respiratory Health Research, Genetic factors in colorectal cancer
Most-Cited Works
- → CTNNB1‐related neurodevelopmental disorder in a Chinese population: A case series(2021)20 cited
- → Prenatal phenotype of Kabuki syndrome: A case series and literature review(2021)17 cited
- → Mowat–Wilson syndrome in a Chinese population: A case series(2020)16 cited
- → Clinical and molecular characterization study of Chinese Kabuki syndrome in Hong Kong(2020)14 cited
- → Genotype/phenotype correlation in 123 Chinese patients with Tuberous Sclerosis Complex(2022)10 cited
- → Extending the phenotype of DeSanto‐Shinawi syndrome: A case report and literature review(2021)9 cited
- → The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project