Joannie Hui

Mutations of OCTN2, an Organic Cation/Carnitine Transporter, Lead to Deficient Cellular Carnitine Uptake in Primary Carnitine Deficiency

Nelson L.S. Tang, Vadivel Ganapathy, Xiang Wu et al. · Human Molecular Genetics · 1999 · 154 citations · Full text

Uptake Activity, Organic Cation/carnitine Transporter, Cardiomyopathy +13

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

Ingrid S. Paine, Jennifer E. Posey, Christopher M. Grochowski et al. · The American Journal of Human Genetics · 2019 · 105 citations · Full text

Functional Genomics, Medicine, Genetics +6

Megalencephalic leukoencephalopathy with subcortical cysts

Eline M. Hamilton, Pınar Tektürk, Fia Cialdella et al. · Neurology · 2018 · 81 citations · Full text

Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity

Chloe Miu Mak, Ching‐Wan Lam, Sidney Tam et al. · Journal of Human Genetics · 2007 · 74 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +11

<scp>BRCA</scp> 1 and <scp>BRCA</scp> 2 tumor suppressors protect against endogenous acetaldehyde toxicity

Eliana MC Tacconi, Xianning Lai, Cecilia Folio et al. · EMBO Molecular Medicine · 2017 · 68 citations · Full text