Angela L. Rachubinski
University of Colorado Anschutz Medical Campus(US)
Publications by Year
Research Areas
Down syndrome and intellectual disability research, Immunodeficiency and Autoimmune Disorders, Autism Spectrum Disorder Research, Diabetes and associated disorders, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research(2018)480 cited
- → Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes(2022)431 cited
- → Trisomy 21 causes changes in the circulating proteome indicative of chronic autoinflammation(2017)228 cited
- → Trisomy 21 dysregulates T cell lineages toward an autoimmunity-prone state associated with interferon hyperactivity(2019)183 cited
- → Mass Cytometry Reveals Global Immune Remodeling with Multi-lineage Hypersensitivity to Type I Interferon in Down Syndrome(2019)143 cited
- → Trisomy 21 activates the kynurenine pathway via increased dosage of interferon receptors(2019)143 cited
- → Generation of reactive oxygen species in 1-methyl-4-phenylpyridinium (MPP+) treated dopaminergic neurons occurs as an NADPH oxidase-dependent two-wave cascade(2011)121 cited
- → Triplication of the interferon receptor locus contributes to hallmarks of Down syndrome in a mouse model(2023)98 cited
- → Multidimensional definition of the interferonopathy of Down syndrome and its response to JAK inhibition(2023)71 cited
- → Janus kinase inhibition in Down syndrome: 2 cases of therapeutic benefit for alopecia areata(2019)51 cited