Associated Papers
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
Short-term efficacy of tofacitinib, a JAK inhibitor, in IFIH1-related Aicardi-Goutières syndrome.
Hou L et al.
European Journal of Medical Genetics, 2025
The Type 1 Diabetes-Associated Single Nucleotide Polymorphism rs1990760 in IFIH1 Is Associated with Increased Basal Type I IFNs and IFN-stimulated Gene Expression.
Taylor JP et al.
Journal of Immunology (baltimore, Md. : 1950), 2024
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
Neurological Findings and a Brief Review of the Current Literature in a Severe Case of Aicardi-Goutières Syndrome Due to an IFIH1 Mutation.
Železnik M et al.
Neuropediatrics, 2024
Neurophenotype and genetic analysis of children with Aicardi-Goutières syndrome in China.
Zhang S et al.
Pediatric Investigation, 2024
IFIH1 variants are associated with generalised epilepsy preceded by febrile seizures.
Song W et al.
Journal of Medical Genetics, 2024
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
Innate immune responses to RNA: sensing and signaling.
Luan X et al.
Frontiers in Immunology, 2024
Aicardi-Goutières syndrome presenting with pneumocystis jirovecii pneumonia.
Fogel LA et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2023
A holistic approach to maximise diagnostic output in trio exome sequencing.
von Hardenberg S et al.
Frontiers in Pediatrics, 2023
Case report: Pneumocystis jirovecii pneumonia in a severe case of Aicardi-Goutières syndrome with an IFIH1 gain-of-function mutation mimicking combined immunodeficiency.
Železnik M et al.
Frontiers in Immunology, 2022
Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency.
Kanazawa N et al.
Nature Communications, 2021
MDA5 disease variant M854K prevents ATP-dependent structural discrimination of viral and cellular RNA.
Yu Q et al.
Nature Communications, 2021
Severe diarrhea in a 10-year-old girl with Aicardi-Goutières syndrome due to IFIH1 gene mutation.
Lu M et al.
American Journal of Medical Genetics. Part A, 2021
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
Brunet T et al.
Clinical Genetics, 2021
Distinct and Orchestrated Functions of RNA Sensors in Innate Immunity.
Liu G et al.
Immunity, 2020
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Rice GI et al.
Human Mutation, 2020
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review.
Garau J et al.
Journal of Clinical Medicine, 2019
R516Q mutation in Melanoma differentiation-associated protein 5 (MDA5) and its pathogenic role towards rare Singleton-Merten syndrome; a signature associated molecular dynamics study.
Raghuraman P et al.
Journal of Biomolecular Structure & Dynamics, 2019
Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus.
Almlöf JC et al.
Human Genetics, 2019
Aicardi goutières syndrome is associated with pulmonary hypertension.
Adang LA et al.
Molecular Genetics and Metabolism, 2018
Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy.
de Carvalho LM et al.
Arthritis & Rheumatology (hoboken, N.j.), 2017
MDA5-Associated Neuroinflammation and the Singleton-Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum.
Buers I et al.
Journal of Interferon & Cytokine Research : the Official Journal of the International Society for Interferon and Cytokine Research, 2017
Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers.
Wenger AM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
RIG-I-Like Receptor Signaling in Singleton-Merten Syndrome.
Lu C et al.
Frontiers in Genetics, 2017
Novel interferonopathies associated with mutations in RIG-I like receptors.
Buers I et al.
Cytokine & Growth Factor Reviews, 2016
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Crow YJ et al.
American Journal of Medical Genetics. Part A, 2015
Autosomal dominant IFIH1 gain-of-function mutations cause Aicardi-Goutières syndrome.
Diamond J
Clinical Genetics, 2014
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.
Rice GI et al.
Nature Genetics, 2014
MITO-FIND: A study in 390 patients to determine a diagnostic strategy for mitochondrial disease.
Kerr M et al.
Molecular Genetics and Metabolism, 0