Nichole Owen
Overview
Explore the profile of Nichole Owen including associated specialties, affiliations and a list of published articles.
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18
Citations
350
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0
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Recent Articles
1.
Kumar R, Vossaert L, Bi W, Owen N, Rau R, Helber H, et al.
Cancer Genet
. 2024 Aug;
288-289:5-9.
PMID: 39178500
Recognition of patients with multiple diagnoses, and the unique challenges they pose to clinicians and laboratorians, is increasing rapidly as genome-wide genetic testing grows in prevalence. We describe a unique...
2.
Vuocolo B, German R, Lalani S, Murali C, Bacino C, Baskin S, et al.
Genet Med
. 2024 Mar;
26(6):101102.
PMID: 38431799
Purpose: Genomic medicine can end diagnostic odysseys for patients with complex phenotypes; however, limitations in insurance coverage and other systemic barriers preclude individuals from accessing comprehensive genetics evaluation and testing....
3.
German R, Vuocolo B, Vossaert L, Owen N, Lewis R, Saba L, et al.
Mol Genet Genomic Med
. 2024 Feb;
12(2):e2404.
PMID: 38404254
Background: The RPGR gene has been associated with X-linked cone-rod dystrophy. This report describes a variant in RPGR detected with exome sequencing (ES). Genes like RPGR have not always been...
4.
Huth E, Zhao X, Owen N, Luna P, Vogel I, Dorf I, et al.
Eur J Hum Genet
. 2023 Sep;
31(12):1430-1439.
PMID: 37673932
Anomalous pulmonary venous return (APVR) frequently occurs with other congenital heart defects (CHDs) or extra-cardiac anomalies. While some genetic causes have been identified, the optimal approach to genetic testing in...
5.
Ford C, Littlejohn R, German R, Vuocolo B, Aceves J, Vossaert L, et al.
Mol Genet Genomic Med
. 2023 Aug;
11(12):e2272.
PMID: 37614148
Background: Genomic medicine is revolutionizing the diagnosis of rare diseases, but the implementation has not benefited underrepresented populations to the same degree. Here, we report the case of a 7-year-old...
6.
Hale R, Owen N, Yuan B, Chinn I
J Clin Immunol
. 2023 Mar;
43(5):902-906.
PMID: 36890397
No abstract available.
7.
Markovitz R, Owen N, Forbes Satter L, Kirk S, Mahoney D, Bertuch A, et al.
Am J Med Genet A
. 2021 Jun;
185(10):3118-3121.
PMID: 34159722
Congenital disorders of glycosylation are a group of rare monogenic inborn errors of metabolism caused by defective glycoprotein and glycolipid glycan synthesis and attachment. Here, we present a patient with...
8.
Owen N, Minko I, Moellmer S, Cammann S, Lloyd R, McCullough A
Proc Natl Acad Sci U S A
. 2021 Apr;
118(11).
PMID: 33836581
Human clinical trials suggest that inhibition of enzymes in the DNA base excision repair (BER) pathway, such as PARP1 and APE1, can be useful in anticancer strategies when combined with...
9.
Schaser A, Osterberg V, Dent S, Stackhouse T, Wakeham C, Boutros S, et al.
Sci Rep
. 2019 Jul;
9(1):10919.
PMID: 31358782
Alpha-synuclein is a presynaptic protein that forms abnormal cytoplasmic aggregates in Lewy body disorders. Although nuclear alpha-synuclein localization has been described, its function in the nucleus is not well understood....
10.
Juarez E, Chambwe N, Tang W, Mitchell A, Owen N, Kumari A, et al.
DNA Repair (Amst)
. 2018 Nov;
72:1-9.
PMID: 30389308
Formaldehyde is a ubiquitous DNA damaging agent, with human exposures occurring from both exogenous and endogenous sources. Formaldehyde exposure can result in multiple types of DNA damage, including DNA-protein crosslinks...