Carolina Uggenti
Edinburgh, SCT, United Kingdom
Last Updated: 09/26/2026
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Found 23 publications
Spondyloenchondrodysplasia: An enigmatic immuno-osseus type I interferonopathy.
Journal: Journal of human immunity
Published: October 06, 2025
Baricitinib Treatment in RNU7-1-Associated Aicardi-Goutières Syndrome in a South African Child: A Case Report.
Journal: American journal of medical genetics. Part A
Published: September 23, 2024
Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series.
Journal: The Lancet. Neurology
Published: September 04, 2024
MDA5 gain-of-function associated with a Glu794del mutation.
Journal: Journal of clinical immunology
Published: January 17, 2024
Molecular characterization of an intronic RNASEH2B variant in a patient with Aicardi-Goutières syndrome.
Journal: European journal of medical genetics
Published: November 03, 2022
Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement.
Journal: Journal of clinical immunology
Published: October 06, 2021
A sensitive and affordable multiplex RT-qPCR assay for SARS-CoV-2 detection.
Journal: PLoS biology
Published: November 05, 2020
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing.
Journal: Nature genetics
Published: July 03, 2020
PRIM1 deficiency causes a distinctive primordial dwarfism syndrome.
Journal: Genes & development
Published: May 09, 2020
Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling.
Journal: The Journal of experimental medicine
Published: April 01, 2020
Analysis of U8 snoRNA Variants in Zebrafish Reveals How Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts.
Journal: American journal of human genetics
Published: February 10, 2020
Biallelic mutations in NRROS cause an early onset lethal microgliopathy.
Journal: Acta neuropathologica
Published: October 07, 2019
Last Updated: 09/26/2026