Angela L Rachubinski
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Explore the profile of Angela L Rachubinski including associated specialties, affiliations and a list of published articles.
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25
Citations
483
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Recent Articles
1.
Santoro J, Eduthan N, Khoshnood M, Jafarpour S, Boyd N, Vogel B, et al.
Ann Clin Transl Neurol
. 2025 Feb;
PMID: 39996411
Objectives: This study sought to evaluate proteomic, metabolomic, and immune signatures in the cerebrospinal fluid of individuals with Down Syndrome Regression Disorder (DSRD). Methods: A prospective case-control study comparing proteomic,...
2.
Rachubinski A, Wallace E, Gurnee E, Enriquez-Estrada B, Worek K, Smith K, et al.
Elife
. 2024 Dec;
13.
PMID: 39737640
Background: Individuals with Down syndrome (DS), the genetic condition caused by trisomy 21 (T21), display clear signs of immune dysregulation, including high rates of autoimmunity and severe complications from infections....
3.
Gillenwater L, Galbraith M, Rachubinski A, Eduthan N, Sullivan K, Espinosa J, et al.
Sci Adv
. 2024 Dec;
10(50):eadq3073.
PMID: 39671500
Down syndrome (DS), caused by trisomy 21 (T21), results in immune and metabolic dysregulation. People with DS experience co-occurring conditions at higher rates than the euploid population. However, the interplay...
4.
Feldman E, Li Y, Cutler D, Rosser T, Wechsler S, Sanclemente L, et al.
medRxiv
. 2024 Sep;
PMID: 39281767
Congenital heart defects (CHDs) are the most common structural birth defect and are present in 40-50% of children born with Down syndrome (DS). To characterize the genetic architecture of DS-associated...
5.
Rachubinski A, Patel L, Sannar E, Kammeyer R, Sanders J, Enriquez-Estrada B, et al.
J Neuroimmunol
. 2024 Aug;
395:578442.
PMID: 39216159
Down Syndrome Regression Disorder (DRSD) is an uncommon but devastating condition affecting primarily adolescents and young adults with Down syndrome (DS). Individuals with DS display a dysregulated immune system associated...
6.
Donovan M, Rachubinski A, Smith K, Araya P, Waugh K, Enriquez-Estrada B, et al.
Cell Rep
. 2024 Aug;
43(8):114599.
PMID: 39120971
Down syndrome (DS), the genetic condition caused by trisomy 21 (T21), is characterized by delayed neurodevelopment, accelerated aging, and increased risk of many co-occurring conditions. Hypoxemia and dysregulated hematopoiesis have...
7.
Rachubinski A, Wallace E, Gurnee E, Estrada B, Worek K, Smith K, et al.
medRxiv
. 2024 Jul;
PMID: 38946973
Individuals with Down syndrome (DS), the genetic condition caused by trisomy 21 (T21), display clear signs of immune dysregulation, including high rates of autoimmune disorders and severe complications from infections....
8.
Donovan M, Eduthan N, Smith K, Britton E, Lyford H, Araya P, et al.
Nat Commun
. 2024 Jun;
15(1):5473.
PMID: 38942750
Individuals with Down syndrome, the genetic condition caused by trisomy 21, exhibit strong inter-individual variability in terms of developmental phenotypes and diagnosis of co-occurring conditions. The mechanisms underlying this variable...
9.
Santoro J, Khoshnood M, Jafarpour S, Nguyen L, Boyd N, Vogel B, et al.
Ann Clin Transl Neurol
. 2024 Feb;
11(4):1034-1045.
PMID: 38375538
Objective: To determine the prevalence of neuroimaging abnormalities in individuals with Down syndrome regression disorder (DSRD) and evaluate if neuroimaging abnormalities were predictive of therapeutic responses. Methods: A multicenter, retrospective,...
10.
Galbraith M, Rachubinski A, Smith K, Araya P, Waugh K, Enriquez-Estrada B, et al.
Sci Adv
. 2023 Jun;
9(26):eadg6218.
PMID: 37379383
Individuals with Down syndrome (DS) display chronic hyperactivation of interferon signaling. However, the clinical impacts of interferon hyperactivity in DS are ill-defined. Here, we describe a multiomics investigation of interferon...