Associated Papers
IFIH1 variants are associated with generalised epilepsy preceded by febrile seizures.
Song W et al.
Journal of Medical Genetics, 2024
38964834 (PubMed )
Supplement: jmg-2024-109950supp002.xlsx › __1
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › IFIH1
Precision treatment of Singleton Merten syndrome with ruxolitinib: a case report.
Broser P et al.
Pediatric Rheumatology Online Journal, 2022
Oral Phenotype of Singleton-Merten Syndrome: A Systematic Review Illustrated With a Case Report.
Riou MC et al.
Frontiers in Genetics, 2022
A case of Singleton-Merten syndrome without cardiac involvement harboring a novel IFIH1 variant.
Vengoechea J et al.
American Journal of Medical Genetics. Part A, 2020
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