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Journal of Medical Genetics|January 30, 2024
Homozygous <i>SMAD6</i> variants in two unrelated patients with craniosynostosis and radioulnar synostosisIlse Luyckx, Isaac Scott Walton, Nele Boeckx, et al.
NPJ Genomic Medicine|May 3, 2025
An outlier approach: advancing diagnosis of neurological diseases through integrating proteomics into multi-omics guided exome reanalysisMartin Man-Chun Chui, Anna Ka-Yee Kwong, Hiu Yu Cherie Leung, et al.
Ebiomedicine|May 28, 2026
Translating transcriptomics analysis into diagnostic workflows: clinical variant identification and interpretation in hypothesis-driven and hypothesis-free approachesChingyiu Pang, Martin Man-Chun Chui, Wenshu Tang, et al.
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