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Presence Current · Arkansas
Last published 2025
Sources OpenAlex · ORCID
Refreshed 2026-08-15
Elizabeth A. Sellars profile photo

Elizabeth A. Sellars

Associate Professor

Also affiliated: Cincinnati Children's Hospital Medical Center (2011); National Institutes of Health (2004); Arkansas Children's Hospital (2013–2025); Vanderbilt University (2020); University of Arkansas Medical Center (2014–2015); Eunice Kennedy Shriver National Institute of Child Health and Human Development (2004); Royal Academy of Music (2006–2008); University of Cincinnati Medical Center (2011)

Faculty Researcher

Peds Pediatrics, College of Medicine

18 h-index 38 pubs 1,438 cited

  • Humans
  • Male
  • Female
  • Phenotype
  • Child
  • Mutation
  • Child, Preschool
  • Adolescent
  • Infant
  • Genetic Association Studies
  • Animals
  • Intellectual Disability
  • Young Adult
  • Adult
  • Genotype

Biography and Research Information

OverviewAI-generated summary

Elizabeth A. Sellars is an Associate Professor in the Department of Pediatrics at the University of Arkansas for Medical Sciences. Her research focuses on the genetic basis of developmental disorders, particularly intellectual disability and neurodevelopmental delays. Sellars has published work investigating deleterious, protein-altering variants in genes such as ZMYM3 and AFF3, which are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. Her research also extends to rare genetic conditions, including ankyloblepharon-ectodermal defects-cleft lip/palate syndrome linked to novel tumor protein p63 gene variants. Additionally, Sellars has explored the implementation of pharmacogenomics testing in a clinical setting, as evidenced by her experience at Arkansas Children’s Hospital. Her scholarship metrics include an h-index of 18 with over 1,400 citations across 38 publications.

Metrics

  • h-index: 18
  • Publications: 38
  • Citations: 1,438

Selected Publications

  • Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome in monozygotic twins with a novel tumor protein p63 gene pathogenic variant (2025)
    JAAD Case Reports 1 citation DOI OpenAlex
  • P288: A review of phenotypic and genetic data in craniofacial microsomia cases from a multidisciplinary craniofacial clinic (2025)
    Genetics in Medicine Open DOI OpenAlex
  • eP238: Inner epicanthal and nasal pits as presenting feature of holoprosencephaly (2022)
    Genetics in Medicine DOI OpenAlex
  • Implementing Pharmacogenomics Testing: Single Center Experience at Arkansas Children’s Hospital (2021)
    Journal of Personalized Medicine 25 citations DOI OpenAlex
  • Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy (2021)
    The American Journal of Human Genetics 45 citations DOI OpenAlex
  • NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism (2020)
    The American Journal of Human Genetics 42 citations DOI OpenAlex
  • Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1 (2019)
    Human Mutation 137 citations DOI OpenAlex
  • Cover Image, Volume 176A, Number 4, April 2018 (2018)
    American Journal of Medical Genetics Part A DOI OpenAlex
  • Biallelic mutations in FDXR cause neurodegeneration associated with inflammation (2018)
    Journal of Human Genetics 38 citations DOI OpenAlex
  • Genetic Considerations in Infants with Congenital Anomalies (2018)
  • Natural history and genotype‐phenotype correlations in 72 individuals with <i>SATB2</i>‐associated syndrome (2018)
    American Journal of Medical Genetics Part A 76 citations DOI OpenAlex
  • Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy (2017)
    The American Journal of Human Genetics 72 citations DOI OpenAlex
  • Severe Metabolic Acidosis and Hepatopathy due to Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (2016)
    Neuropediatrics 9 citations DOI OpenAlex
  • Whole exome sequencing reveals <i><scp>EP</scp>300</i> mutation in mildly affected female: expansion of the spectrum (2016)
    Clinical Case Reports 9 citations DOI OpenAlex
  • <i>COL1A1</i> and <i>COL1A2</i> sequencing results in cohort of patients undergoing evaluation for potential child abuse (2016)
    American Journal of Medical Genetics Part A 23 citations DOI OpenAlex

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Grants & Funding

As listed on this researcher's institutional profile.

  • Arkansas Reproductive Health Services Monitoring (ARHMS) UAMS ACHRI Flow Through Principal Investigator

Collaboration Network

46 Collaborators 31 Institutions 11 Countries

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