Martin Man-Chun Chui

5PUBLICATIONS
90CO-AUTHORS
Neurology and neuromuscular diseasesMedical biochemistry - proteins and peptides (incl. medical proteomics)Gene expression (incl. microarray and other genome-wide approaches)Gene mapping
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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

|Dec 28, 2022
Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept.

Mianne Lee, Anna K Y Kwong, Martin M C Chui

|Mar 22, 2022
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.

Jeffrey Fong Ting Chau, Mullin Ho Chung Yu, Martin Man Chun Chui

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Frequent Collaborators

5 joint publications

Brian Hon-Yin Chung

3 joint publications

Aida M Bertoli-Avella

3 joint publications

Dario R Alessi

3 joint publications

Ayşe Nazlı Başak