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Genetics

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94
Citations
27222
World Ranking
942
National Ranking
465

Medicine

D-Index
95
Citations
27897
World Ranking
10184
National Ranking
5235

Overview

Richard A. Spritz is affiliated with the University of Colorado Denver in the United States. Their research primarily spans the field of Biochemistry, Genetics, and Molecular Biology, with a total of 34 publications in this area.

Their subfields of study include Genetics, Molecular Biology, Computer Vision and Pattern Recognition, Cell Biology, and Immunology. These disciplines reflect a multidisciplinary approach to investigating biological and genetic mechanisms.

Spritz's main topics of research cover a range of interests including:

  • Face recognition and analysis
  • Genomic variations and chromosomal abnormalities
  • Genetic and phenotypic traits in livestock
  • Melanin and skin pigmentation
  • Morphological variations and asymmetry
  • AI in cancer detection
  • Atherosclerosis and Cardiovascular Diseases

Frequent co-authors in Spritz's publications include:

  • Benedikt Hallgrímsson
  • Ophir D. Klein
  • Harold Matthews
  • Peter Claes
  • Hilde Peeters

Contributions to academic publishing are found across several venues, with repeated appearances in:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • IEEE Access
  • Journal of Medical Genetics
  • The American Journal of Human Genetics
  • UNC Libraries

Some of the recent papers authored or co-authored by Spritz include:

  • "Precise modulation of transcription factor levels identifies features underlying dosage sensitivity," published in Nature Genetics in 2023
  • "The Genetic Basis of Vitiligo," published in the Journal of Investigative Dermatology in 2020
  • "Automated syndrome diagnosis by three-dimensional facial imaging," published in Genetics in Medicine in 2020
  • "FaceBase 3: analytical tools and FAIR resources for craniofacial and dental research," published in Development in 2020
  • "Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism," published in Scientific Reports in 2021

Best Publications

  • The structure and evolution of the human β-globin gene family

    Argiris Efstratiadis;James W. Posakony;Tom Maniatis;Richard M. Lawn

  • Epidemiology of vitiligo and associated autoimmune diseases in Caucasian probands and their families.

    Asem Alkhateeb;Pamela R. Fain;Anthony Thody;Dorothy C. Bennett

  • NALP1 in Vitiligo-Associated Multiple Autoimmune Disease

    Ying Jin;Christina M Mailloux;Katherine Gowan;Sheri L Riccardi

  • The genome architecture of the collaborative cross mouse genetic reference population

    Fuad A. Iraqi;Mustafa Mahajne;Yasser Salaymah;Hani Sandovski

  • Revised classification/nomenclature of vitiligo and related issues: the Vitiligo Global Issues Consensus Conference

    K. Ezzedine;H. W. Lim;T. Suzuki;I. Katayama

  • Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome.

    Deborah L. Nagle;Mohammad A. Karim;Elizabeth A. Woolf;Lisa Holmgren

  • Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism

    Lutz B. Giebel;Richard A. Spritz

  • Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1).

    Wei Li;Qing Zhang;Naoki Oiso;Edward K Novak

  • A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism

    Eugene M. Rinchik;Scott J. Bultman;Bernhard Horsthemke;Seung Taek Lee

  • Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.

    Ying Jin;Stanca A. Birlea;Pamela R. Fain;Katherine Gowan

  • Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia.

    Koji Suzuki;Diane Hu;Tania Bustos;Joel Zlotogora

  • The Structure and Evolution of the Human /?-Globin Gene Family

    Argiris Efstratiadis;James W. Posakony;Tom Maniatis;Richard M. Lawn

  • Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles.

    Jangsuk Oh;Tu Bailin;Kazuyoshi Fukai;Guo Hong Feng

  • Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo

    Ying Jin;Stanca A Birlea;Pamela R Fain;Tracey M Ferrara

  • Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants.

    Ying Jin;Genevieve Andersen;Daniel Yorgov;Tracey M. Ferrara

  • What should the genome-wide significance threshold be? Empirical replication of borderline genetic associations

    Orestis A. Panagiotou;John P.A. Ioannidis;John P.A. Ioannidis;John P.A. Ioannidis;Joel N. Hirschhorn;Goncalo R. Abecasis

  • Base substitution in an intervening sequence of a beta+-thalassemic human globin gene

    R. A. Spritz;P. Jagadeeswaran;Prabhakara V Choudary;P. A. Biro

  • The genetics of generalized vitiligo and associated autoimmune diseases.

    Richard A. Spritz

  • Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela.

    Mehmet A. Sözen;Koji Suzuki;Marie M. Tolarova;Tania Bustos

  • Early disease onset and increased risk of other autoimmune diseases in familial generalized vitiligo.

    Greggory Laberge;Christina M. Mailloux;Katherine Gowan;Paulene Holland

Frequent Co-Authors

Benedikt Hallgrímsson
Benedikt Hallgrímsson Alberta Children's Hospital
Dorothy C. Bennett
Dorothy C. Bennett St George's, University of London
Ophir D. Klein
Ophir D. Klein University of California, San Francisco
David A. Norris
David A. Norris University of Colorado Anschutz Medical Campus
Richard T. Swank
Richard T. Swank Roswell Park Cancer Institute
Axel Visel
Axel Visel Lawrence Berkeley National Laboratory
Trevor Williams
Trevor Williams Texas A&M University
Bernard G. Forget
Bernard G. Forget Yale University
Charles A. Dinarello
Charles A. Dinarello University of Colorado Anschutz Medical Campus
Mauro Picardo
Mauro Picardo Sapienza University of Rome

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