Anna Ka-Yee Kwong

5PUBLICATIONS
83CO-AUTHORS
Neurology and neuromuscular diseasesMedical biochemistry - proteins and peptides (incl. medical proteomics)Gene expression (incl. microarray and other genome-wide approaches)Developmental genetics (incl. sex determination)Medical biochemistry - lipids
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Publications (5)

|Apr 15, 2026
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality.

|Aug 16, 2024
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.

Francesca Magrinelli, Christelle Tesson, Plamena R Angelova

|Feb 15, 2023
Evaluating High-Confidence Genes in Conotruncal Cardiac Defects by Gene Burden Analyses.

Martin M C Chui, Christopher C Y Mak, Mullin H C Yu

|Aug 11, 2021
High FGF-21 level in a cohort of 22 patients with Dravet Syndrome-Possible relationship with the disease outcomes.

Anna Ka-Yee Kwong, Virginia Chun-Nei Wong, Sheila Suet-Na Wong

|Jul 14, 2021
Human d-lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency.

Anna Ka-Yee Kwong, Sheila Suet-Na Wong, Richard J T Rodenburg

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Frequent Collaborators

3 joint publications

Martin Man-Chun Chui

3 joint publications

Ayşe Nazlı Başak

3 joint publications

Brian Hon-Yin Chung

3 joint publications

Hermann Steller