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Open Access Rapid Communication Issue
A novel truncating variant in PRDM16 causes severe familial cardiomyopathy with variable clinical presentations
Yuan Che, Lindsey Walker, Lillian Sau, Tingting Tang, Wei Li, Chao Shen, Nick Shillingford, Ramzi Bawab, Jianjun Chen, Miao Sun
Genes & Diseases 2026, 13(3)
Published: 13 October 2025
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Downloads：2
Open Access Rapid Communication Issue
A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis
Miao Sun, Cornelia K. Kaminsky, Philip Deppe, Mai-Britt Ilse, Frédéric M. Vaz, Barbara Plecko, Torben Lübke, Linda M. Randolph
Genes & Diseases 2024, 11(3): 101025
Published: 10 July 2023
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Downloads：7
Open Access Rapid Communication Issue
A homozygous nonsense mutation in DNAJC30 causes Leber's hereditary optic neuropathy with Leigh-like phenotypes
Chao Shen, Kitty Wang, Wei Li, Alvaro Serrano, Kelly Powers, Chengwan Zhang, Jianjun Chen, Miao Sun
Genes & Diseases 2023, 10(4): 1165-1168
Published: 06 October 2022
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Downloads：8
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