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); Eunice Kennedy Shriver National Institute of Child Health and Human Development (2004); Arkansas Children's Research Institute (2021); University of Cincinnati (2011)
Peds Pediatrics, College of Medicine
Research Areas
Biomedical Subjects
Biography and Research Information
OverviewAI-generated summary
Elizabeth A. Sellars studies genetic factors contributing to various human conditions, with a particular focus on pediatric disorders. Her research investigates genotype-phenotype correlations, examining how specific genetic mutations manifest in observable traits and clinical symptoms. Sellars has published on conditions including PIK3CA-related overgrowth spectrum, intellectual disability caused by mutations in CAMK2A and CAMK2B, and neurofibromatosis type 1. Her work also explores rare neurodegenerative disorders linked to germline mutations in histone genes, as well as congenital muscular dystrophies and mitochondriopathies resulting from specific gene mutations. Sellars collaborates with researchers at the University of Arkansas for Medical Sciences, including Kevin Bielamowicz, Pritmohinder S. Gill, Jason E. Farrar, and Feliciano Yu, with whom she shares publications. Her scholarship metrics include an h-index of 18, 36 total publications, and 1,453 total citations.
Metrics
- h-index: 18
- Publications: 34
- Citations: 1,397
Positions
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Associate Professor publications 2014–2026University of Arkansas for Medical Sciences Peds Pediatrics, College of Medicine Institutional directory
Selected Publications
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FLVCR1-related disease presenting with retinitis pigmentosa, pain insensitivity, and immunodeficiency: a case report (2026)
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Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome in monozygotic twins with a novel tumor protein p63 gene pathogenic variant (2025)
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P288: A review of phenotypic and genetic data in craniofacial microsomia cases from a multidisciplinary craniofacial clinic (2025)
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eP238: Inner epicanthal and nasal pits as presenting feature of holoprosencephaly (2022)
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Implementing Pharmacogenomics Testing: Single Center Experience at Arkansas Children’s Hospital (2021)
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Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy (2021)
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NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism (2020)
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Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1 (2019)
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Cover Image, Volume 176A, Number 4, April 2018 (2018)
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Biallelic mutations in FDXR cause neurodegeneration associated with inflammation (2018)
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Genetic Considerations in Infants with Congenital Anomalies (2018)
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Natural history and genotype‐phenotype correlations in 72 individuals with SATB2 ‐associated syndrome (2018)
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Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy (2017)
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Severe Metabolic Acidosis and Hepatopathy due to Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (2016)
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Whole exome sequencing reveals EP 300 mutation in mildly affected female: expansion of the spectrum (2016)
Grants & Funding
As listed on this researcher's institutional profile.
- Arkansas Reproductive Health Services Monitoring (ARHMS) UAMS ACHRI Flow Through Principal Investigator
Collaboration Network
Top Collaborators
- Natural history and genotype‐phenotype correlations in 72 individuals with SATB2 ‐associated syndrome
- Further supporting evidence for the SATB2‐associated syndrome found through whole exome sequencing
- Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy
- COL1A1 and COL1A2 sequencing results in cohort of patients undergoing evaluation for potential child abuse
- Aortic dilation in pediatric patients
Showing 5 of 8 shared publications
- Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
- Natural history and genotype‐phenotype correlations in 72 individuals with SATB2 ‐associated syndrome
- COL1A1 and COL1A2 sequencing results in cohort of patients undergoing evaluation for potential child abuse
- A Newborn With Complex Skeletal Abnormalities, Joint Contractures, and Bilateral Corneal Clouding With Sclerocornea
- Severe Metabolic Acidosis and Hepatopathy due to Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate
Showing 5 of 7 shared publications
- Implementing Pharmacogenomics Testing: Single Center Experience at Arkansas Children’s Hospital
- A Newborn With Complex Skeletal Abnormalities, Joint Contractures, and Bilateral Corneal Clouding With Sclerocornea
- Whole exome sequencing reveals EP 300 mutation in mildly affected female: expansion of the spectrum
- Genetic Considerations in Infants with Congenital Anomalies
- Natural history and genotype‐phenotype correlations in 72 individuals with SATB2 ‐associated syndrome
- Biallelic mutations in FDXR cause neurodegeneration associated with inflammation
- COL1A1 and COL1A2 sequencing results in cohort of patients undergoing evaluation for potential child abuse
- Cover Image, Volume 176A, Number 4, April 2018
- A Newborn With Complex Skeletal Abnormalities, Joint Contractures, and Bilateral Corneal Clouding With Sclerocornea
- Aortic dilation in pediatric patients
- Aortic dilation, genetic testing, and associated diagnoses
- Natural history and genotype‐phenotype correlations in 72 individuals with SATB2 ‐associated syndrome
- Further supporting evidence for the SATB2‐associated syndrome found through whole exome sequencing
- Cover Image, Volume 176A, Number 4, April 2018
- Natural history and genotype‐phenotype correlations in 72 individuals with SATB2 ‐associated syndrome
- Further supporting evidence for the SATB2‐associated syndrome found through whole exome sequencing
- Cover Image, Volume 176A, Number 4, April 2018
- Natural history and genotype‐phenotype correlations in 72 individuals with SATB2 ‐associated syndrome
- Further supporting evidence for the SATB2‐associated syndrome found through whole exome sequencing
- Cover Image, Volume 176A, Number 4, April 2018
- COL1A1 and COL1A2 sequencing results in cohort of patients undergoing evaluation for potential child abuse
- Aortic dilation in pediatric patients
- Aortic dilation, genetic testing, and associated diagnoses
- Aortic dilation in pediatric patients
- Aortic dilation, genetic testing, and associated diagnoses
- Natural history and genotype‐phenotype correlations in 72 individuals with SATB2 ‐associated syndrome
- Cover Image, Volume 176A, Number 4, April 2018
- Natural history and genotype‐phenotype correlations in 72 individuals with SATB2 ‐associated syndrome
- Cover Image, Volume 176A, Number 4, April 2018
- Natural history and genotype‐phenotype correlations in 72 individuals with SATB2 ‐associated syndrome
- Cover Image, Volume 176A, Number 4, April 2018
- Natural history and genotype‐phenotype correlations in 72 individuals with SATB2 ‐associated syndrome
- Cover Image, Volume 176A, Number 4, April 2018
- Natural history and genotype‐phenotype correlations in 72 individuals with SATB2 ‐associated syndrome
- Cover Image, Volume 176A, Number 4, April 2018
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