Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function
Article in Human Molecular Genetics (April 2024)
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Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy
Article in Nature Genetics (March 2024)
Digenic variant interpretation with hypothesis-driven explainable AI
Preprint in bioRxiv (October 2023)