Publications:

Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs.

The Lancet Regional Health. Western Pacific

Chung, Claudia C Y CCY; Leung, Gordon K C GKC; Mak, Christopher C Y CCY; Fung, Jasmine L F JLF; Lee, Mianne M; Pei, Steven L C SLC; Yu, Mullin H C MHC; Hui, Vivian C C VCC; Chan, Joshua C K JCK; Chau, Jeffrey F T JFT; Chan, Marcus C Y MCY; Tsang, Mandy H Y MHY; Wong, Wilfred H S WHS; Tung, Joanna Y L JYL; Lun, Kin Shing KS; Ng, Yiu Ki YK; Fung, Cheuk Wing CW; Wong, Mabel S C MSC; Wong, Rosanna M S RMS; Lau, Yu Lung YL; Chan, Godfrey C F GCF; Lee, So Lun SL; Yeung, Kit San KS; Chung, Brian H Y BHY

Publication Date: 2020-08

Variant appearance in text: WNK4: 1510C>T; Gln504Ter

PubMed Link: 34327338

Variant Present in the following documents:

• Main text

View BVdb publication page

Inherited salt-losing tubulopathies are associated with immunodeficiency due to impaired IL-17 responses.

Nature Communications

Evans, Rhys D R RDR; Antonelou, Marilina M; Sathiananthamoorthy, Sanchutha S; Rega, Marilena M; Henderson, Scott S; Ceron-Gutierrez, Lourdes L; Barcenas-Morales, Gabriela G; Müller, Christoph A CA; Doffinger, Rainer R; Walsh, Stephen B SB; Salama, Alan D AD

Publication Date: 2020-08-31

Variant appearance in text: WNK4: 1510C>T; Gln504*

PubMed Link: 32868758

Variant Present in the following documents:

• 41467_2020_18184_MOESM1_ESM.pdf

View BVdb publication page