Match tier Listed
Presence Current · Arkansas
Last published 2019
Sources OpenAlex · ORCID
Refreshed 2026-10-03

Adolfo D. Garnica

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Also affiliated: Oklahoma State University (2008); University of Iowa (1991); Arkansas Children's Hospital (2014–2018); Georgetown University (1995–1996); Columbia University Irving Medical Center (1991); Georgetown University Medical Center (1996); University of Florida Health (1977–2007); University of Florida (1977–2007); Saint Francis Hospital (2008–2011); Children's Hospital of Oklahoma (1979–1988); Oklahoma State University at Tulsa (2008); University of Oklahoma Health Sciences Center (1979–1991); University of Oklahoma (1978–1991)

17 h-index 54 pubs 2,608 cited

  • Humans
  • Male
  • Female
  • Child
  • Infant, Newborn
  • Child, Preschool
  • Adult
  • Infant
  • Copper
  • Adolescent
  • Brain Diseases, Metabolic
  • Menkes Kinky Hair Syndrome
  • Pedigree
  • Mutation
  • Phenotype

Biography and Research Information

OverviewAI-generated summary

Adolfo D. Garnica's research has focused on the study of microbial infections and disease, with a particular emphasis on understanding the mechanisms of microbial pathogenesis and the development of novel therapeutic strategies. His work has contributed to the broader understanding of infectious diseases and their impact on public health. Garnica has published in peer-reviewed journals, disseminating his findings to the scientific community.

Metrics

  • h-index: 17
  • Publications: 54
  • Citations: 2,608

Selected Publications

  • Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy (2019)
    Human Mutation 47 citations DOI OpenAlex
  • KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect (2018)
    Annals of Neurology 62 citations DOI OpenAlex
  • McArdle Disease Presenting With Muscle Pain in a Teenage Girl: The Role of Whole-Exome Sequencing in Neurogenetic Disorders (2017)
    Seminars in Pediatric Neurology 1 citation DOI OpenAlex
  • Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors (2015)
    Molecular Genetics and Metabolism 48 citations DOI OpenAlex
  • Persistent congenital hyperinsulinism in two patients with Beckwith-Wiedemann syndrome due to mosaic uniparental disomy 11p (2014)
    Journal of Pediatric Endocrinology and Metabolism 6 citations DOI OpenAlex
  • A Newborn With Complex Skeletal Abnormalities, Joint Contractures, and Bilateral Corneal Clouding With Sclerocornea (2014)
    Seminars in Pediatric Neurology 17 citations DOI OpenAlex

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Collaboration Network

79 Collaborators 48 Institutions 14 Countries

Top Collaborators

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