Associated Papers
Gene variants of interferon induced with helicase C domain 1 in Japanese patients with Dermatomyositis-associated rapidly progressive interstitial lung disease: a genetic association study using whole-exome and Sanger sequencing.
Okamoto M et al.
Respiratory Research, 2025
Neurophenotype and genetic analysis of children with Aicardi-Goutières syndrome in China.
Zhang S et al.
Pediatric Investigation, 2024
39347527 (PubMed )
Supplement: PED4-8-193-s001.pdf
Aicardi-Goutières syndrome type 7 in a Chinese child: A case report.
Lin SZ et al.
World Journal of Clinical Cases, 2023
Inborn errors of TLR3- or MDA5-dependent type I IFN immunity in children with enterovirus rhombencephalitis.
Chen J et al.
The Journal of Experimental Medicine, 2021
Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms.
Luo H et al.
European Journal of Human Genetics : Ejhg, 2021
33867526 (PubMed )
Supplement: 41431_2021_886_MOESM2_ESM.xlsx › TableS4
Lipin 1 deficiency causes adult-onset myasthenia with motor neuron dysfunction in humans and neuromuscular junction defects in zebrafish.
Lu S et al.
Theranostics, 2021
33456573 (PubMed )
Supplement: thnov11p2788s1.pdf
The role of host genetics in susceptibility to severe viral infections in humans and insights into host genetics of severe COVID-19: A systematic review.
Elhabyan A et al.
Virus Research, 2020
Recent human genetic errors of innate immunity leading to increased susceptibility to infection.
Moens L et al.
Current Opinion in Immunology, 2020
Hereditary spastic paraplegia associated with a rare IFIH1 mutation: a case report and literature review.
Liu N et al.
Hereditas, 2019
Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea.
Tong W et al.
Scientific Reports, 2018
29581464 (PubMed )
Supplement: 41598_2018_23503_MOESM1_ESM.xls › P15
Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.
Lamborn IT et al.
The Journal of Experimental Medicine, 2017
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