Sock Hoai Chan on Muck Rack

Sock Hoai Chan

As seen in: Nature, Texas Medical Center
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Articles

Bi-Allelic Loss-of-Function Variants in TMEM63B Cause Syndromic Surfactant Dysfunction Disorder

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By Sock Hoai Chan
| Texas Medical Center
Publication Date 7-2-2026 Journal American Journal of Human Genetics DOI 10.1016/j.ajhg.2026.05.008 PubMedCentral® Posted Date 6-29-2026 PubMedCentral® Full Text Version Author MSS Abstract Transmembrane protein 63B gene (TMEM63B) encodes a mechanosensitive ion channel expressed in alveolar type II epithelial cells, where it mediates stretch-induced surfactant secretion.
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Analysis of clinically relevant variants from ancestrally diverse Asian genomes - Nature Communications

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By Sock Hoai Chan, Maxime Hebrard, Liuh Ling Goh, Eng Sing Lee, Eleanor Wong, Shyam Prabhakar, Jianjun Liu, Ching-Yu Cheng, Neerja Karnani, Xueling Sim, Khung Keong Yeo, E-Shyong Tai, Patrick Tan, Saumya S. Jamuar, Joanne Ngeow
| Nature Verified
Abstract Asian populations are under-represented in human genomics research. Here, we characterize clinically significant genetic variation in 9051 genomes representing East Asian, South Asian, and severely under-represented Austronesian-speaking Southeast Asian ancestries.
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Functional characterisation guides classification of novel BAP1 germline variants

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By Sock Hoai Chan, Joanne Ngeow, Siao Ting Chong, Po-Hsien Lee
| Nature Verified
Abstract We have identified six patients harbouring distinct germline BAP1 mutations. In this study, we functionally characterise known BAP1 pathogenic and likely benign germline variants out of these six patients to aid in the evaluation and classification of unknown BAP1 germline variants.
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