Nicholas Rafaels
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Explore the profile of Nicholas Rafaels including associated specialties, affiliations and a list of published articles.
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2863
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Recent Articles
1.
Guo B, Cai Y, Kim D, Smit R, Wang Z, Iyer K, et al.
medRxiv
. 2025 Mar;
PMID: 40034751
Polygenic risk scores (PRS) hold prognostic value for identifying individuals at higher risk of type 2 diabetes (T2D). However, further characterization is needed to understand the generalizability of T2D PRS...
2.
Slack S, Esquinca E, Arehart C, Boorgula M, Szczesny B, Romero A, et al.
medRxiv
. 2025 Feb;
PMID: 39974046
Background: Genetic control of gene expression in asthma-related tissues is not well-characterized, particularly for African-ancestry populations, limiting advancement in our understanding of the increased prevalence and severity of asthma in...
3.
Stoneman H, Price A, Trout N, Lamont R, Tifour S, Pozdeyev N, et al.
Am J Hum Genet
. 2025 Jan;
112(2):235-253.
PMID: 39824191
Genetic summary data are broadly accessible and highly useful, including for risk prediction, causal inference, fine mapping, and incorporation of external controls. However, collapsing individual-level data into summary data, such...
4.
Jacoby E, Quan D, Todd E, Shortt J, Smith H, Rafaels N, et al.
Muscle Nerve
. 2024 Dec;
71(2):252-256.
PMID: 39655870
Introduction/aims: Hereditary transthyretin amyloidosis (ATTRv) is a genetic condition caused by pathogenic variants in the transthyretin (TTR) gene resulting in multisystem amyloid deposition, especially in peripheral nerve and heart. Information...
5.
Simon S, Lin M, Trinkley K, Aleong R, Rafaels N, Crooks K, et al.
PLoS One
. 2024 Jun;
19(6):e0303261.
PMID: 38885227
Drug-induced QT prolongation (diLQTS), and subsequent risk of torsade de pointes, is a major concern with use of many medications, including for non-cardiac conditions. The possibility that genetic risk, in...
6.
Stoneman H, Price A, Trout N, Lamont R, Tifour S, Pozdeyev N, et al.
bioRxiv
. 2024 May;
PMID: 38766180
Genetic summary data are broadly accessible and highly useful including for risk prediction, causal inference, fine mapping, and incorporation of external controls. However, collapsing individual-level data into groups masks intra-...
7.
Lo Faro V, Bhattacharya A, Zhou W, Zhou D, Wang Y, Lall K, et al.
Cell Rep Med
. 2024 Feb;
5(2):101430.
PMID: 38382466
Primary open-angle glaucoma (POAG), a leading cause of irreversible blindness globally, shows disparity in prevalence and manifestations across ancestries. We perform meta-analysis across 15 biobanks (of the Global Biobank Meta-analysis...
8.
Wiley L, Shortt J, Roberts E, Lowery J, Kudron E, Lin M, et al.
Am J Hum Genet
. 2024 Jan;
111(1):11-23.
PMID: 38181729
Precision medicine initiatives across the globe have led to a revolution of repositories linking large-scale genomic data with electronic health records, enabling genomic analyses across the entire phenome. Many of...
9.
Pozdeyev N, Dighe M, Barrio M, Raeburn C, Smith H, Fisher M, et al.
J Clin Endocrinol Metab
. 2023 Sep;
109(2):402-412.
PMID: 37683082
Context: Thyroid nodule ultrasound-based risk stratification schemas rely on the presence of high-risk sonographic features. However, some malignant thyroid nodules have benign appearance on thyroid ultrasound. New methods for thyroid...
10.
Xanthine oxidoreductase gene polymorphisms are associated with high risk of sepsis and organ failure
Gao L, Rafaels N, Dudenkov T, Damarla M, Damico R, Maloney J, et al.
Respir Res
. 2023 Jul;
24(1):177.
PMID: 37415141
Background: Sepsis and associated organ failures confer substantial morbidity and mortality. Xanthine oxidoreductase (XOR) is implicated in the development of tissue oxidative damage in a wide variety of respiratory and...