Christina Hung
Boston Children's Hospital(US)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Genomics and Rare Diseases, Metabolism and Genetic Disorders, Genetics and Neurodevelopmental Disorders, Cellular transport and secretion
Most-Cited Works
- → Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia(2016)314 cited
- → Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome(2015)240 cited
- → De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes(2019)90 cited
- → Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region(2019)73 cited
- → ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder(2019)66 cited
- → From Genotype to Phenotype—A Review of Kabuki Syndrome(2022)60 cited
- → Analysis of Lyso-Globotriaosylsphingosine in Dried Blood Spots(2013)38 cited
- → Transcobalamin II deficiency at birth(2009)28 cited
- → Laboratory and genetic evaluation of Gaucher disease(2010)26 cited
- → Lyso‐globotriaosylsphingosine (lyso‐Gb3) levels in neonates and adults with the Fabry disease later‐onset GLA IVS4+919G>A mutation(2012)21 cited