Ivan F. M. Lo
Department of Health(CN)Tseung Kwan O Hospital(CN)Kowloon Hospital(CN)Duchess of Kent Children's Hospital(CN)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Prenatal Screening and Diagnostics, Genetics and Neurodevelopmental Disorders, Connective tissue disorders research
Most-Cited Works
- → Rett Syndrome and Beyond: Recurrent Spontaneous and Familial MECP2 Mutations at CpG Hotspots(1999)515 cited
- → NSD1 mutations generate a genome-wide DNA methylation signature(2015)208 cited
- → NovelFOXF1Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain(2013)123 cited
- → The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP(2013)83 cited
- → Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features(2010)80 cited
- → Detecting exon deletions and duplications of the DMD gene using Multiplex Ligation-dependent Probe Amplification (MLPA)(2006)80 cited