Associated Papers
A Phenotypic Paradigm for Cerebral Palsy Genetics.
Arterbery AS et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
Monogenic and SLE-like disorders in the pediatric population: insights from a Northern Israel cohort.
Spivak I et al.
Lupus, 2026
Gut metabolites identified in cerebrospinal fluid of genetic interferonopathy support gut-brain endothelial dysfunction.
Dale RC et al.
Clinical & Translational Immunology, 2026
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
Genetic investigations in cerebral palsy.
Basu AP et al.
Developmental Medicine and Child Neurology, 2025
Case Report: Heterozygous ADAR c.3019G>A pathogenic variant associated with variable neurological symptoms and incomplete penetrance in a four-generational family.
Bauer AK et al.
Frontiers in Immunology, 2025
Aicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period.
Gabaldon-Albero A et al.
Pediatric Rheumatology Online Journal, 2024
Children With Type I Interferonopathy: Commonalities and Diversities in a Large Patient Cohort.
Haslak F et al.
The Journal of Rheumatology, 2024
Adult-onset cranio-cervical segmental dystonia due to ADAR1 gene mutation: A novel phenotype.
Mahale R et al.
Parkinsonism & Related Disorders, 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
Nucleotide metabolism, leukodystrophies, and CNS pathology.
Gavazzi F et al.
Journal of Inherited Metabolic Disease, 2024
Neurophenotype and genetic analysis of children with Aicardi-Goutières syndrome in China.
Zhang S et al.
Pediatric Investigation, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
Multi-dimensional Insight into the Coexistence of Pathogenic Genes for ADAR1 and TSC2: Careful Consideration is Essential for Interpretation of ADAR1 Variants.
Liu X et al.
Biochemical Genetics, 2024
Improving access to exome sequencing in a medically underserved population through the Texome Project.
Vuocolo B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS).
de Barcelos IP et al.
Molecular Genetics and Metabolism, 2024
Generation of three induced pluripotent stem cell lines from individuals with Aicardi-Goutières syndrome caused by a c.3019G>A (p.G1007R) autosomal dominant pathogenic variant in ADAR1.
Garcia L et al.
Stem Cell Research, 2024
Autosomal dominant ADAR c.3019G>A (p.(G1007R)) variant is an important mimic of hereditary spastic paraplegia and cerebral palsy.
Jones HF et al.
Brain & Development, 2022
Case Report: Aicardi-Goutières Syndrome Type 6 and Dyschromatosis Symmetrica Hereditaria With Congenital Heart Disease and Mitral Valve Calcification - Phenotypic Variants Caused by Adenosine Deaminase Acting on the RNA 1 Gene Homozygous Mutations.
Liu L et al.
Frontiers in Pediatrics, 2022
Cardiac valve involvement in ADAR-related type I interferonopathy.
Crow Y et al.
Journal of Medical Genetics, 2020
Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
Salfati EL et al.
Genome Medicine, 2019
Seven novel mutations of ADAR in multi-ethnic pedigrees with dyschromatosis symmetrica hereditaria in China.
Wang P et al.
Molecular Genetics & Genomic Medicine, 2019
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.
Travaglini L et al.
Neurogenetics, 2018
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.
Rice GI et al.
Neuropediatrics, 2017
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
ADAR1 Facilitates HIV-1 Replication in Primary CD4+ T Cells.
Cuadrado E et al.
Plos One, 2015
Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.
Crow YJ et al.
Neuropediatrics, 2014
A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1.
Livingston JH et al.
Journal of Medical Genetics, 2014
Mutations in the ADAR1 gene in Chinese families with dyschromatosis symmetrica hereditaria.
Zhang GL et al.
Genetics and Molecular Research : Gmr, 2013
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.
Rice GI et al.
Nature Genetics, 2012
Double-stranded RNA-specific adenosine deaminase (DSRAD) gene mutation in a Chinese family with dyschromatosis symmetrica hereditaria (DSH).
Dong Y et al.
International Journal of Dermatology, 2011
Mutational spectrum of the ADAR1 gene in dyschromatosis symmetrica hereditaria.
Li M et al.
Archives of Dermatological Research, 2010
Dyschromatosis symmetrica hereditaria associated with neurological disorders.
Kondo T et al.
The Journal of Dermatology, 2008
Mutation analysis of the ADAR1 gene in dyschromatosis symmetrica hereditaria and genetic differentiation from both dyschromatosis universalis hereditaria and acropigmentatio reticularis.
Suzuki N et al.
The Journal of Investigative Dermatology, 2005