Author details

Full Name

Nicholas Rafaels

Affiliation

ORCID

Career Start Year

2007

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37683082	Thyroid Cancer Polygenic Risk Score Improves Classification of Thyroid Nodules as Benign or Malignant.	J Clin Endocrinol Metab	2024
36702996	Multi-ancestry transcriptome-wide association analyses yield insights into tobacco use biology and drug repurposing.	Nat Genet	2023
37415141	Xanthine oxidoreductase gene polymorphisms are associated with high risk of sepsis and organ failure.	Respir Res	2023
36767733	COVID-19 Mortality in the Colorado Center for Personalized Medicine Biobank.		2023
34111454	Polygenic prediction of atopic dermatitis improves with atopic training and filaggrin factors.	J Allergy Clin Immunol	2022
35927319	Rare genetic variants explain missing heritability in smoking.	Nat Hum Behav	2022
34919694	Migrating a research data warehouse to a public cloud: challenges and opportunities.	Journal of the American Medical Informatics Association : JAMIA	2022
36477530	Genetic diversity fuels gene discovery for tobacco and alcohol use.	Nature	2022
33868389	Association Between Variants in Calcineurin Inhibitor Pharmacokinetic and Pharmacodynamic Genes and Renal Dysfunction in Adult Heart Transplant Recipients.	Front Genet	2021
33713768	Genome-wide association study of asthma, total IgE, and lung function in a cohort of Peruvian children.	J Allergy Clin Immunol	2021
33548076	Whole genome sequencing identifies novel genetic mutations in patients with eczema herpeticum.	Allergy	2021
34536413	Multiethnic genome-wide and HLA association study of total serum IgE level.	J Allergy Clin Immunol	2021
34253456	Variants in mycophenolate and CMV antiviral drug pharmacokinetic and pharmacodynamic genes and leukopenia in heart transplant recipients.	J Heart Lung Transplant	2021
33997407	Zika Virus Congenital Syndrome and gene variants: insights from a family of dizygotic twins.	Heliyon	2021
31981624	Association of HLA-DRB1â¿¿09:01 with tIgE levels among African-ancestry individuals with asthma.	J Allergy Clin Immunol	2020
33339817	Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.	Nat Commun	2020
32077359	Clinical implementation of pharmacogenomics via a health system-wide research biobank: the University of Colorado experience.	Pharmacogenomics	2020
31443688	Replicated methylation changes associated with eczema herpeticum and allergic response.	Clin Epigenetics	2019
30986379	The soluble worm antigens-specific antibodies used as biomarkers of Schistosoma japonicum in a low prevalence and intensity endemic area of Hubei, China.	Acta Tropica	2019
30455414	Assembly of a pan-genome from deep sequencing of 910 humans of African descent.	Nat Genet	2019
29323929	Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis.	Ann Am Thorac Soc	2018
29631575	The genetics of smoking in individuals with chronic obstructive pulmonary disease.	Respir Res	2018
29604251	Patients with Atopic Dermatitis Colonized with Staphylococcus aureus Have a Distinct Phenotype and Endotype.		2018
29191953	Surfactant protein D is a causal risk factor for COPD: results of Mendelian randomisation.	Eur Respir J	2017
28637835	Do COPD subtypes really exist? COPD heterogeneity and clustering in 10 independent cohorts.	Thorax	2017
28284979	Effect of polymorphisms on TGFB1 on allergic asthma and helminth infection in an African admixed population.	Annals of Allergy, Asthma and Immunology	2017
28189770	The role of ST2 and ST2 genetic variants in schistosomiasis.	Journal of Allergy and Clinical Immunology	2017
28174340	Genetic variants affecting cross-sectional lung function in adults show little or no effect on longitudinal lung function decline.	Thorax	2017
27173434	Peripheral blood eosinophilia correlates with hyperplastic nasal polyp growth.	International Forum of Allergy and Rhinology	2016
26473621	Identification of Rare Variants in ATP8B4 as a Risk Factor for Systemic Sclerosis by Whole-Exome Sequencing.	Arthritis Rheumatol	2016
27725671	A continuum of admixture in the Western Hemisphere revealed by the African Diaspora genome.	Nat Commun	2016
25489667	Serum endostatin is a genetically determined predictor of survival in pulmonary arterial hypertension.	Am J Respir Crit Care Med	2015
26343451	Targeted deep sequencing identifies rare loss-of-function variants in IFNGR1 for risk of atopic dermatitis complicated by eczema herpeticum.	Journal of Allergy and Clinical Immunology	2015
26258681	An IL-13 promoter polymorphism associated with liver fibrosis in patients with Schistosoma japonicum.	PLoS ONE	2015
25591454	Ethnic-specific associations of rare and low-frequency DNA sequence variants with asthma.	Nat Commun	2015
25562321	Telomerase mutations in smokers with severe emphysema.	J Clin Invest	2015
25514360	Genome-Wide Association Study Identification of Novel Loci Associated with Airway Responsiveness in Chronic Obstructive Pulmonary Disease.	Am J Respir Cell Mol Biol	2015
24412367	Critical role for mast cell Stat5 activity in skin inflammation.	Cell Rep	2014
23932459	Genome-wide association study of lung function phenotypes in a founder population.	J Allergy Clin Immunol	2014
24655576	APOÎµ4 is associated with enhanced in vivo innate immune responses in human subjects.	J Allergy Clin Immunol	2014
23984888	ITGB5 and AGFG1 variants are associated with severity of airway responsiveness.	BMC Med Genet	2013
23554133	African ancestry is a risk factor for asthma and high total IgE levels in African admixed populations.	Genet Epidemiol	2013
23273955	Coassociations between IL10 polymorphisms, IL-10 production, helminth infection, and asthma/wheeze in an urban tropical population in Brazil.	Journal of Allergy and Clinical Immunology	2013
22986903	Genome-wide study identifies two loci associated with lung function decline in mild to moderate COPD.	Hum Genet	2013
22113474	Genetic variants in interferon regulatory factor 2 (IRF2) are associated with atopic dermatitis and eczema herpeticum.		2012
21163515	Tight junction defects in patients with atopic dermatitis.	Journal of Allergy and Clinical Immunology	2011
20656951	Thymic stromal lymphopoietin gene promoter polymorphisms are associated with susceptibility to bronchial asthma.	Am J Respir Cell Mol Biol	2011
21804549	Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations.	Nat Genet	2011
21775992	Recombination rates in admixed individuals identified by ancestry-based inference.	Nat Genet	2011
21489616	Reductions in claudin-1 may enhance susceptibility to herpes simplex virus 1 infections in atopic dermatitis.	Journal of Allergy and Clinical Immunology	2011