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N. Rafaels · SciRah

Researcher profile · Semantic Scholar

N. Rafaels

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N. Rafaels — researcher profile on SciRah

h-index: 46
Works: 168
Citations: 8,903

Most-cited papers

Inherited Causes of Clonal Hematopoiesis in 97,691 TOPMed Whole Genomes
A. Bick, J. Weinstock, Satish K. Nandakumar, Charles P. Fulco +130 more
2020Nature461 citations Open access
Semantic Scholar
Genetic diversity fuels gene discovery for tobacco and alcohol use
Gretchen R. B. Saunders, Xingyan Wang, Fang Chen, Seonkyeong Jang +213 more
2022Nature426 citations Open access
Semantic Scholar
Assembly of a pan-genome from deep sequencing of 910 humans of African descent
Rachel M. Sherman, Juliet Forman, Valentin Antonescu, D. Puiu +42 more
2018Nature Genetics328 citations Open access
Semantic Scholar
Inherited causes of clonal haematopoiesis in 97,691 whole genomes
A. Bick, J. Weinstock, Satish K. Nandakumar, Charles P. Fulco +131 more
2020Nature217 citations Open access
Semantic Scholar
APOε 4 is associated with enhanced in vivo innate immune responses in humans
Stephen C. Gale, Li Gao, C. Mikacenic, S. Coyle +15 more
2014Journal of Allergy and Clinical Immunology193 citations Open access
Semantic Scholar
Clonal hematopoiesis and risk of chronic liver disease
Wai-Hay J. Wong, C. Emdin, A. Bick, S. Zekavat +435 more
2023Nature174 citations Open access
Semantic Scholar
Telomerase mutations in smokers with severe emphysema.
S. Stanley, J. J. Chen, Joshua D. Podlevsky, J. Alder +8 more
2015Journal of Clinical Investigation174 citations Open access
Semantic Scholar
A continuum of admixture in the Western Hemisphere revealed by the African Diaspora genome
R. Mathias, M. Taub, C. Gignoux, W. Fu +58 more
2016Nature Communications161 citations Open access
Semantic Scholar
Atopic dermatitis Subjects Colonized with Staphylococcus aureus have a Distinct Phenotype and Endotype
E. Simpson, M. Villarreal, B. Jepson, N. Rafaels +9 more
2018Journal of Investigative Dermatology157 citations Open access
Semantic Scholar
A second update on mapping the human genetic architecture of COVID-19
Masahiro Shea J. Mattia Christine Benjamin M. Mark Andrea G Kanai Andrews Cordioli Stevens Neale Daly Ganna Pa, Masahiro Shea J. Mattia Christine Benjamin M. Mark Andrea Kanai Andrews Cordioli Stevens Neale Daly Ganna, Masahiro Kanai, S. Andrews +496 more
2022Nature108 citations Open access
Semantic Scholar
Serum endostatin is a genetically determined predictor of survival in pulmonary arterial hypertension.
R. Damico, T. Kolb, Lidenys Valera, Lan Wang +17 more
2015American Journal of Respiratory and Critical Care Medicine102 citations Open access
Semantic Scholar
Association study in African-admixed populations across the Americas recapitulates asthma risk loci in non-African populations
M. Daya, N. Rafaels, T. Brunetti, S. Chavan +61 more
2019Nature Communications86 citations Open access
Semantic Scholar
DO “COPD SUBTYPES” REALLY EXIST?
P. Castaldi, M. Benet, H. Petersen, N. Rafaels +25 more
2017Thorax84 citations Open access
Semantic Scholar
Critical Role for Mast Cell Stat5 Activity in Skin Inflammation
T. Ando, W. Xiao, Pei-Song Gao, S. Namiranian +15 more
2014Cell Reports81 citations Open access
Semantic Scholar
Ethnic-specific associations of rare and low-frequency DNA sequence variants with asthma
C. Igartua, Rachel A. Myers, R. Mathias, M. Pino-Yanes +28 more
2015Nature Communications78 citations Open access
Semantic Scholar
Genome-Wide Association Study of Lung Function Phenotypes in a Founder Population
T. Yao, G. Du, Li-De Han, Ying Sun +21 more
2013Journal of Allergy and Clinical Immunology68 citations Open access
Semantic Scholar
Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed
M. Taub, Matthew P. Conomos, Rebecca Keener, K. Iyer +144 more
2022Cell Genomics67 citations Open access
Semantic Scholar
Genome-wide study identifies two loci associated with lung function decline in mild to moderate COPD
N. Hansel, I. Ruczinski, N. Rafaels, D. Sin +36 more
2012Human Genetics57 citations Open access
Semantic Scholar
Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole-genome sequencing studies
Xi-Hao Li, Corbin Quick, Hufeng Zhou, Sheila M. Gaynor +420 more
2022Nature Genetics55 citations Open access
Semantic Scholar
African Ancestry is a Risk Factor for Asthma and High Total IgE Levels in African Admixed Populations
C. Vergara, Tanda Murray, N. Rafaels, R. Lewis +18 more
2013Genetic Epidemiology54 citations Open access
Semantic Scholar
Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease
J. Nielsen, O. Rom, I. Surakka, Sarah E. Graham +103 more
2020Nature Communications53 citations Open access
Semantic Scholar
Surfactant Protein D is a Causal Risk Factor for Chronic Obstructive Pulmonary Disease: Results of Mendelian Randomization
M. Obeidat, Xuan Li, S. Burgess, Guohai Zhou +20 more
2017European Respiratory Journal51 citations Open access
Semantic Scholar
Author Correction: Inherited causes of clonal haematopoiesis in 97,691 whole genomes
A. Bick, J. Weinstock, Satish K. Nandakumar, Charles P. Fulco +131 more
2021Nature50 citations Open access
Semantic Scholar
Multi-ancestry transcriptome-wide association analyses yield insights into tobacco use biology and drug repurposing
Fang Chen, Xingyan Wang, Seonkyeong Jang, B. Quach +86 more
2023Nature Genetics47 citations Open access
Semantic Scholar
Clinical implementation of pharmacogenomics via a health system-wide research biobank: the University of Colorado experience
C. Aquilante, David P. Kao, Katy E. Trinkley, Chen-Tan Lin +15 more
2020Pharmacogenomics (London)47 citations Open access
Semantic Scholar
Whole-exome Sequencing Identifies Rare Variants in ATP8B4 as a Risk Factor for Systemic Sclerosis
Li Gao, M. Emond, T. Louie, C. Cheadle +14 more
2016Arthritis & Rheumatology46 citations Open access
Semantic Scholar
Targeted Deep Sequencing Identifies Rare ‘loss-of-function’ Variants in IFNGR1 for Risk of Atopic Dermatitis Complicated by Eczema Herpeticum
Li Gao, L. Bin, N. Rafaels, Lili Huang +12 more
2015Journal of Allergy and Clinical Immunology40 citations Open access
Semantic Scholar
An IL-13 Promoter Polymorphism Associated with Liver Fibrosis in Patients with Schistosoma japonicum
Xin Long, Qian Chen, Jian-Ping Zhao, N. Rafaels +13 more
2015PLoS ONE33 citations Open access
Semantic Scholar
Genetic variants affecting cross-sectional lung function in adults show little or no effect on longitudinal lung function decline
C. John, M. Soler Artigas, J. Hui, S. F. Nielsen +16 more
2017Thorax31 citations Open access
Semantic Scholar
Genome-Wide Association Study Identification of Novel Loci Associated with Airway Responsiveness in Chronic Obstructive Pulmonary Disease.
N. Hansel, P. Paré, N. Rafaels, D. Sin +23 more
2014American Journal of Respiratory Cell and Molecular Biology31 citations Open access
Semantic Scholar
Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk
S. Choi, S. Jurgens, Ling Xiao, M. Hill +496 more
2025Nature Genetics29 citations Open access
Semantic Scholar
Building a vertically integrated genomic learning health system: The biobank at the Colorado Center for Personalized Medicine
Laura K. Wiley, J. Shortt, E. Roberts, J. Lowery +43 more
2024American Journal of Human Genetics29 citations Open access
Semantic Scholar
Polygenic prediction of atopic dermatitis improves with atopic training and filaggrin factors
C. Arehart, M. Daya, Monica Campbell, M. Boorgula +17 more
2021Journal of Allergy and Clinical Immunology27 citations Open access
Semantic Scholar
Migrating a research data warehouse to a public cloud: challenges and opportunities
M. G. Kahn, Joyce Y. Mui, Michael J. Ames, Anoop K Yamsani +3 more
2021J. Am. Medical Informatics Assoc.27 citations Open access
Semantic Scholar
Whole genome sequencing identifies novel genetic mutations in patients with eczema herpeticum
L. Bin, C. Malley, P. Taylor, M. Boorgula +24 more
2021Allergy. European Journal of Allergy and Clinical Immunology26 citations Open access
Semantic Scholar
Novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation
V. Lo Faro, Arjun Bhattacharya, Wei Zhou, Dan Zhou +32 more
2024Cell Reports Medicine25 citations Open access
Semantic Scholar
Inherited Causes of Clonal Hematopoiesis of Indeterminate Potential in TOPMed Whole Genomes
A. Bick, J. Weinstock, Satish K. Nandakumar, Charles P. Fulco +119 more
2019bioRxiv25 citations Open access
Semantic Scholar
Replicated methylation changes associated with eczema herpeticum and allergic response
M. Boorgula, M. Taub, N. Rafaels, M. Daya +17 more
2019Clinical Epigenetics25 citations Open access
Semantic Scholar
Rare genetic variants explain missing heritability in smoking
Seonkyeong Jang, L. Evans, A. Fialkowski, D. Arnett +86 more
2022Nature Human Behaviour24 citations Open access
Semantic Scholar
The pharmacogenomics of inhaled corticosteroids and lung function decline in COPD
M. Obeidat, A. Faiz, Xuan Li, M. van den Berge +12 more
2019European Respiratory Journal21 citations Open access
Semantic Scholar
Thyroid cancer polygenic risk score improves classification of thyroid nodules as benign or malignant.
N. Pozdeyev, M. Dighe, M. Barrio, C. Raeburn +14 more
2023Journal of Clinical Endocrinology and Metabolism20 citations Open access
Semantic Scholar
Peripheral blood eosinophilia correlates with hyperplastic nasal polyp growth
Virginia E. Drake, N. Rafaels, Jean Kim
2016International Forum of Allergy and Rhinology20 citations
Semantic Scholar
ITGB5 and AGFG1 variants are associated with severity of airway responsiveness
B. Himes, W. Qiu, B. Klanderman, J. Ziniti +20 more
2013BMC Medical Genetics20 citations Open access
Semantic Scholar
Genome-wide Association study of Asthma, Total IgE, and Lung function in a Cohort of Peruvian Children
A. Akenroye, T. Brunetti, K. Romero, M. Daya +21 more
2021Journal of Allergy and Clinical Immunology19 citations Open access
Semantic Scholar
Effect of polymorphisms on TGFB1 on allergic asthma and helminth infection in an African admixed population
Ryan dos Santos Costa, C. Figueiredo, M. Barreto, N. Alcântara-Neves +9 more
2017Annals of Allergy, Asthma & Immunology18 citations Open access
Semantic Scholar
Multi-ethnic genome-wide and HLA association study of total serum IgE
M. Daya, Corey Cox, N. Acevedo, M. Boorgula +43 more
2021Journal of Allergy and Clinical Immunology17 citations Open access
Semantic Scholar
Association of HLA-DRB1*09:01 with tIgE levels among African ancestry individuals with asthma.
N. Vince, Sophie Limou, M. Daya, Wataru Morii +27 more
2020Journal of Allergy and Clinical Immunology17 citations Open access
Semantic Scholar
Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis
E. Blue, T. Louie, Jessica X. Chong, S. Hebbring +6 more
2018Annals of the American Thoracic Society16 citations Open access
Semantic Scholar
The genetics of smoking in individuals with chronic obstructive pulmonary disease
M. Obeidat, Guohai Zhou, Xuan Li, N. Hansel +7 more
2018Respiratory Research14 citations Open access
Semantic Scholar
VARIANTS IN MYCOPHENOLATE AND CMV ANTIVIRAL DRUG PHARMACOKINETIC AND PHARMACODYNAMIC GENES AND LEUKOPENIA IN HEART TRANSPLANT RECIPIENTS
K. Oreschak, L. Saba, N. Rafaels, A. Ambardekar +4 more
2021The Journal of Heart and Lung Transplantation12 citations Open access
Semantic Scholar

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