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Medrxiv : the Preprint Server for Health Sciences|January 23, 2024
<i>De novo</i> variants in <i>PLCG1</i> are associated with hearing impairment, ocular pathology, and cardiac defectsMengqi Ma, Yiming Zheng, Shenzhao Lu, et al.
Elife|August 27, 2025
Heterozygous variants in <i>PLCG1</i> affect hearing, vision, cardiac, and immune functionMengqi Ma, Yiming Zheng, Mingxi Deng, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 24, 2024
Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinomaMengqi Ma, Mythily Ganapathi, Yiming Zheng, et al.
American Journal of Human Genetics|March 13, 2024
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic featuresXueyang Pan, Alice M Tao, Shenzhao Lu, et al.
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