Concepedia
Statistics
Publications
10
Citations
637
H-Index
Active since
2000
Affiliations
The University of Sydney(Current)
UNSW Sydney
St Vincent's Hospital Sydney
Westmead Hospital
Garvan Institute of Medical Research
Kathy H. C. Wu is an author at The University of Sydney specializing in medicine, pathology, and genetics.
Top concepts
MedicinePathologyGeneticsUrologyGenomicsNeurologyPhysiologyRna SplicingNeurogeneticsBioinformatics
Publications per year
2000–2022
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14
Haloom Rafehi, Justin Read, David J. Szmulewicz et al. · The American Journal of Human Genetics · 2022 · 159 citations · Full text
Pathology, Neurogenetics, Neurology +2
Differential expression of GFAP in early v late AMD: a quantitative analysis
Kathy H. C. Wu · British Journal of Ophthalmology · 2003 · 155 citations · Full text
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
Adam Bournazos, Lisa G. Riley, Shobhana Bommireddipalli et al. · Genetics in Medicine · 2021 · 99 citations
Medicine, Genetics, Rna Splicing +11
Circulating Inflammatory Markers and Hemostatic Factors in Age-Related Maculopathy: A Population-Based Case–Control Study
Kathy H. C. Wu, Ava Grace Tan, Elena Rochtchina et al. · Investigative Ophthalmology & Visual Science · 2007 · 55 citations
Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency
Jin Yan Yap, Leen Moens, Ming‐Wei Lin et al. · Journal of Clinical Immunology · 2021 · 44 citations · Full text
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