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Arthritis & Rheumatology (Hoboken, N.J.)|November 19, 2016
Expression of Cyclic GMP-AMP Synthase in Patients With Systemic Lupus ErythematosusJie An, Laura Durcan, Reynold M Karr, et al.Orphanet Journal of Rare Diseases|June 16, 2026
Refining Human Phenotype Ontology (HPO) to enable better phenotype-genotype integration in systemic autoimmune rheumatic diseasesAnastasia-Vasiliki Madenidou, Gillian I Rice, Sarah Dyball, et al.Arthritis & Rheumatology (Hoboken, N.J.)|July 9, 2016
Brief Report: Vitamin D Deficiency Is Associated With Endothelial Dysfunction and Increases Type I Interferon Gene Expression in a Murine Model of Systemic Lupus ErythematosusJohn A Reynolds, Avi Z Rosenberg, Carolyne K Smith, et al.Journal of Clinical Immunology|December 22, 2018
DDX58 and Classic Singleton-Merten SyndromeCarlos R Ferreira, Yanick J Crow, William A Gahl, et al.Journal of Clinical Immunology|December 13, 2016
Assessment of Type I Interferon Signaling in Pediatric Inflammatory DiseaseGillian I Rice, Isabelle Melki, Marie-Louise Frémond, et al.Human Molecular Genetics|July 16, 2019
Disease modeling of core pre-mRNA splicing factor haploinsufficiencyKatherine A Wood, Charlie F Rowlands, Wasay Mohiuddin Shaikh Qureshi, et al.Frontiers in Immunology|March 23, 2023
Characterization of a mutant samhd1 zebrafish model implicates dysregulation of cholesterol biosynthesis in Aicardi-Goutières syndromeSarah E Withers, Charlie F Rowlands, Victor S Tapia, et al.European Journal of Medical Genetics|June 15, 2020
Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformationsRajesh Madhu, Glenda M Beaman, Kate E Chandler, et al.Neuropediatrics|November 29, 2019
Biallelic Mutations in MTPAP Associated with a Lethal EncephalopathyLien Van Eyck, Francesco Bruni, Anne Ronan, et al.American Journal of Human Genetics|January 23, 2022
MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian diseaseCharlie F Rowlands, Algy Taylor, Gillian Rice, et al.Pageof 5