Match tier
Listed
Presence
Current · Arkansas
Last published
2026
Sources
OpenAlex · ORCID
Refreshed
2026-10-04
V
Vikki Stefans
Professor
Also affiliated: University of Iowa (2019); Arkansas Children's Hospital (1990–2026); University of Louisville (2020); University of Michigan (1987–1990); University of Arkansas Medical Center (1990–2020); MSN Laboratories (India) (2019); Pediatrics and Genetics (2018); University of Nebraska Medical Center (1990–1995)
Peds Pediatrics, College of Medicine
11 h-index
33 pubs
416 cited
Research Areas
Biomedical Subjects
Biography and Research Information
OverviewAI-generated summary
Vikki Stefans' research focuses on the molecular and clinical aspects of rare genetic disorders, particularly those affecting children. Her work investigates the genetic underpinnings and phenotypic manifestations of conditions such as thymidine kinase 2-related mtDNA maintenance defects and GMPPB-associated dystroglycanopathy. Stefans also studies de novo variants in genes like EBF3, which are linked to hypotonia, developmental delay, and intellectual disability. Her publications explore combination molecular therapies for conditions like type 1 spinal muscular atrophy and the PI3K-AKT pathway's role in overgrowth syndromes and cardiovascular abnormalities.
Her research network includes collaborators such as Murat Gökden, Aravindhan Veerapandiyan, Erin Willis, and Akilandeswari Aravindhan, all based at the University of Arkansas for Medical Sciences. Stefans has authored 29 publications with an h-index of 9 and over 370 citations. Her work has also included studies on pediatric trauma rehabilitation and swallowing dysfunction.
Metrics
- h-index: 11
- Publications: 33
- Citations: 416
Positions
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Professor publications 1990–2026University of Arkansas for Medical Sciences Peds Pediatrics, College of Medicine Institutional directory
Selected Publications
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Access to novel therapies for Duchenne muscular dystrophy—Insights from expert treating physicians (2024)
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Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in FKRP Gene (2022)
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Combination molecular therapies for type 1 spinal muscular atrophy (2020)
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BAG3 Myopathy Presenting With Prominent Neuropathic Phenotype and No Cardiac or Respiratory Involvement: A Case Report and Literature Review (2020)
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Pseudometabolic Presentation of Dystrophinopathy in a Family Due to a Rare Nonsense Mutation (2020)
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A novel noncoding FKRP mutation in early onset limb-girdle muscular dystrophy (2019)
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Dystrophinopathy in a Family Due to a Rare Nonsense Mutation Causing Predominant Behavioral Phenotype (2019)
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Constitutive activation of the PI3K‐AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome (2019)
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GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation (2015)
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Poster 421 Primary Amoebic Meningitis Survivor Story from a Rehabilitation Point of View: A Case Report (2014)
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Experiences from the development of a comprehensive family support program for pediatric trauma and rehabilitation patients (2005)
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Pulmonary embolism in rehabilitation patients: Relation to time before return to physical therapy after diagnosis of deep vein thrombosis (1997)
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Developing anxiety-reduction procedures for a ventilator-dependent pediatric patient. (1991)
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Protocol for the Use of Videofluoroscopy in Pediatric Swallowing Dysfunction (1990)
Grants & Funding
As listed on this researcher's institutional profile.
- MDA Care Center Grant - Continuation Muscular Dystrophy Association Co-Investigator
Collaboration Network
Top Collaborators
Aravindhan Veerapandiyan
Arkansas Children's Hospital
7 shared publications
In database
- Combination molecular therapies for type 1 spinal muscular atrophy
- Access to novel therapies for Duchenne muscular dystrophy—Insights from expert treating physicians
- BAG3 Myopathy Presenting With Prominent Neuropathic Phenotype and No Cardiac or Respiratory Involvement: A Case Report and Literature Review
- Dystrophinopathy in a Family Due to a Rare Nonsense Mutation Causing Predominant Behavioral Phenotype
- A novel noncoding FKRP mutation in early onset limb-girdle muscular dystrophy
Showing 5 of 7 shared publications
Akilandeswari Aravindhan
Arkansas Children's Hospital
4 shared publications
In database
- Dystrophinopathy in a Family Due to a Rare Nonsense Mutation Causing Predominant Behavioral Phenotype
- A novel noncoding FKRP mutation in early onset limb-girdle muscular dystrophy
- Pseudometabolic Presentation of Dystrophinopathy in a Family Due to a Rare Nonsense Mutation
- Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in FKRP Gene
Mary O. Cox
University of Iowa (US)
3 shared publications
- GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation
- A novel noncoding FKRP mutation in early onset limb-girdle muscular dystrophy
- Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in FKRP Gene
Steven A. Moore
University of Iowa (US)
3 shared publications
- GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation
- A novel noncoding FKRP mutation in early onset limb-girdle muscular dystrophy
- Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in FKRP Gene
Murat Gökden
University of Arkansas for Medical Sciences
3 shared publications
In database
- BAG3 Myopathy Presenting With Prominent Neuropathic Phenotype and No Cardiac or Respiratory Involvement: A Case Report and Literature Review
- A novel noncoding FKRP mutation in early onset limb-girdle muscular dystrophy
- Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in FKRP Gene
Esther H. Tompkins
Arkansas Children's Hospital (US)
2 shared publications
- Experiences from the development of a comprehensive family support program for pediatric trauma and rehabilitation patients
- Poster 421 Primary Amoebic Meningitis Survivor Story from a Rehabilitation Point of View: A Case Report
Katherine D. Mathews
University of Iowa (US)
2 shared publications
- GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation
- Access to novel therapies for Duchenne muscular dystrophy—Insights from expert treating physicians
Ezgi Saylam
Arkansas Children's Hospital (US)
2 shared publications
- A novel noncoding FKRP mutation in early onset limb-girdle muscular dystrophy
- Pseudometabolic Presentation of Dystrophinopathy in a Family Due to a Rare Nonsense Mutation
Kapil Arya
Arkansas Children's Hospital
2 shared publications
In database
- Combination molecular therapies for type 1 spinal muscular atrophy
- BAG3 Myopathy Presenting With Prominent Neuropathic Phenotype and No Cardiac or Respiratory Involvement: A Case Report and Literature Review
Vamshi K. Rao
Northwestern University (US)
2 shared publications
- Combination molecular therapies for type 1 spinal muscular atrophy
- Access to novel therapies for Duchenne muscular dystrophy—Insights from expert treating physicians
Nancy L. Kuntz
Northwestern University (US)
2 shared publications
- Combination molecular therapies for type 1 spinal muscular atrophy
- Access to novel therapies for Duchenne muscular dystrophy—Insights from expert treating physicians
William J. Warzak
Nebraska Medical Center (US)
1 shared publication
- Developing anxiety-reduction procedures for a ventilator-dependent pediatric patient.
Lisa E. Engel
University of Michigan (US)
1 shared publication
- Developing anxiety-reduction procedures for a ventilator-dependent pediatric patient.
Lisa G. Bischoff
University of Nebraska Medical Center (US)
1 shared publication
- Developing anxiety-reduction procedures for a ventilator-dependent pediatric patient.
Thomas S. Kiser
University of Arkansas for Medical Sciences
1 shared publication
In database
- Pulmonary embolism in rehabilitation patients: Relation to time before return to physical therapy after diagnosis of deep vein thrombosis
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