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Genetics

D-Index
54
Citations
13476
World Ranking
3628
National Ranking
1573

Overview

Nicholas Rafaels is affiliated with the University of Colorado Denver in the United States. Their research primarily focuses on the fields of Biochemistry, Genetics and Molecular Biology, with a significant portion of work also related to Medicine.

The scientist has contributed extensively to subfields including Genetics, Molecular Biology, Physiology, Immunology, and Cancer Research. Their research topics cover a range of areas such as Genetic Associations and Epidemiology, Asthma and respiratory diseases, Genomics and Rare Diseases, Epigenetics and DNA Methylation, BRCA gene mutations in cancer, Bioinformatics and Genomic Networks, and Dermatology and Skin Diseases.

Frequent publication venues for Nicholas Rafaels include:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Journal of Allergy and Clinical Immunology
  • UNC Libraries
  • Cell Genomics
  • Nature

Notable recent papers authored or co-authored by Nicholas Rafaels are:

  • Inherited causes of clonal haematopoiesis in 97,691 whole genomes, 2020, Nature
  • Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease, 2022, Cell Genomics
  • Global Biobank analyses provide lessons for developing polygenic risk scores across diverse cohorts, 2023, Cell Genomics
  • Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease, 2020, Nature Communications
  • Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed, 2022, Cell Genomics

Nicholas Rafaels frequently collaborates with colleagues such as Kathleen C. Barnes, Christopher R. Gignoux, Sameer Chavan, Kristy Crooks, and Michelle Daya. Their collaborations have contributed to advancing research across various genetic and molecular biology topics.

Best Publications

  • Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations

    Dara G. Torgerson;Dara G. Torgerson;Elizabeth J. Ampleford;Grace Y. Chiu;W. James Gauderman

  • Tight junction defects in patients with atopic dermatitis.

    Anna De Benedetto;Nicholas M. Rafaels;Laura Y. McGirt;Andrei I. Ivanov

  • Inherited causes of clonal haematopoiesis in 97,691 whole genomes.

    Alexander G Bick;Joshua S Weinstock;Satish K Nandakumar;Satish K Nandakumar;Charles P Fulco;Charles P Fulco

  • Sensitive detection of chromosomal segments of distinct ancestry in admixed populations.

    Alkes L. Price;Arti Tandon;Arti Tandon;Nick Patterson;Kathleen C Barnes

  • Variants of DENND1B Associated with Asthma in Children

    Patrick M. A. Sleiman;James Flory;Marcin Imielinski;Jonathan P. Bradfield

  • Assembly of a pan-genome from deep sequencing of 910 humans of African descent

    Rachel M. Sherman;Juliet Forman;Juliet Forman;Valentin Antonescu;Daniela Puiu

  • Genome-wide Association Analysis Identifies PDE4D as an Asthma-Susceptibility Gene

    Blanca E. Himes;Gary M. Hunninghake;James W. Baurley;Nicholas M. Rafaels

  • Filaggrin mutations that confer risk of atopic dermatitis confer greater risk for eczema herpeticum.

    Pei Song Gao;Nicholas M. Rafaels;Tracey Hand;Tanda Murray

  • Thymic Stromal Lymphopoietin Gene Promoter Polymorphisms Are Associated with Susceptibility to Bronchial Asthma

    Michishige Harada;Tomomitsu Hirota;Aya I. Jodo;Yuki Hitomi

  • A genome-wide association study on African-ancestry populations for asthma.

    Rasika A. Mathias;Audrey V. Grant;Nicholas Rafaels;Tracey Hand

  • Patients with Atopic Dermatitis Colonized with Staphylococcus aureus Have a Distinct Phenotype and Endotype

    Eric L. Simpson;Miguel Villarreal;Brett Jepson;Nick Rafaels

  • Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale

    Xihao Li;Zilin Li;Hufeng Zhou;Sheila M Gaynor

  • Genetic variants in thymic stromal lymphopoietin are associated with atopic dermatitis and eczema herpeticum.

    Pei Song Gao;Nicholas M. Rafaels;Deguang Mu;Deguang Mu;Tracey Hand

  • APOε4 is associated with enhanced in vivo innate immune responses in human subjects

    Stephen C. Gale;Li Gao;Carmen Mikacenic;Susette M. Coyle

  • A continuum of admixture in the Western Hemisphere revealed by the African Diaspora genome

    Rasika Ann Mathias;Margaret A. Taub;Christopher R. Gignoux;Wenqing Fu

  • Telomerase mutations in smokers with severe emphysema.

    Susan E. Stanley;Julian J.L. Chen;Joshua D. Podlevsky;Jonathan K. Alder

  • TSLP Polymorphisms are Associated with Asthma in a Sex-Specific Fashion

    Gary M. Hunninghake;Manuel E. Soto-Quirós;Lydiana Avila;Hong P. Kim;Hong P. Kim

  • Human atopic dermatitis complicated by eczema herpeticum is associated with abnormalities in IFN-γ response.

    Donald Y.M. Leung;Pei Song Gao;Dmitry N. Grigoryev;Nicholas M. Rafaels

  • Recombination rates in admixed individuals identified by ancestry-based inference

    Daniel Wegmann;Darren E Kessner;Krishna R Veeramah;Rasika A Mathias

  • Inherited causes of clonal haematopoiesis in 97,691 whole genomes (vol 586 , pg 763, 2020)

    Alexander G. Bick;Joshua S. Weinstock;Satish K. Nandakumar;Charles P. Fulco

Frequent Co-Authors

Kathleen C. Barnes
Kathleen C. Barnes University of Colorado Denver
Rasika A. Mathias
Rasika A. Mathias Johns Hopkins University
Ingo Ruczinski
Ingo Ruczinski Johns Hopkins University
Terri H. Beaty
Terri H. Beaty Johns Hopkins University
Nadia N. Hansel
Nadia N. Hansel Johns Hopkins University
Lisa A. Beck
Lisa A. Beck University of Rochester Medical Center
Lynda C. Schneider
Lynda C. Schneider Boston Children's Hospital
Jon M. Hanifin
Jon M. Hanifin Oregon Health & Science University
Deborah A. Meyers
Deborah A. Meyers University of Arizona
Scott T. Weiss
Scott T. Weiss Harvard University

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