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Current · Arkansas
Last published
2019
Sources
OpenAlex · ORCID
Refreshed
2026-10-05
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Katherine B. Bosanko
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Also affiliated: Arkansas Children's Hospital (2016–2017)
3 h-index
3 pubs
254 cited
Research Areas
Biomedical Subjects
Links
Biography and Research Information
OverviewAI-generated summary
Katherine B. Bosanko's research focuses on the genetic basis of neurodevelopmental disorders. Her work has investigated the role of specific gene variants, such as those in the *AGO1* and *SATB2* genes, in conditions like intellectual disability and SATB2-associated syndrome. Bosanko has studied the clinical manifestations of these syndromes across different age groups, including growth patterns, abnormalities in pharyngeal arch-derived structures, and bone health. Her research also explores the metabolic profiles and cellular energy alterations associated with SATB2-associated syndrome. Bosanko collaborates with researchers at the University of Arkansas for Medical Sciences, including Yuri A. Zárate, with whom she has co-authored 11 publications. Her scholarship metrics include an h-index of 3, with 3 total publications and 250 total citations.
Metrics
- h-index: 3
- Publications: 3
- Citations: 254
Selected Publications
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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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Pathogenic <i>SATB2</i> missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes (2024)
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Abnormalities in pharyngeal arch‐derived structures in SATB2‐associated syndrome (2024)
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Bone health in <i>SATB2</i>‐associated syndrome: Results from a large prospective cohort and recommendations for surveillance (2023)
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Quantitative Phenotype Morbidity Description of SATB2-Associated Syndrome (2023)
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P369: SATB2-associated syndrome severity score: Genotype/phenotype correlations and the SATB2 portal (2023)
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Growth in individuals with <i>SATB2</i>‐associated syndrome (2022)
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<i>De novo</i> coding variants in the <i>AGO1</i> gene cause a neurodevelopmental disorder with intellectual disability (2021)
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Case Report: SATB2-Associated Syndrome Overlapping With Clinical Mitochondrial Disease Presentation: Report of Two Cases (2021)
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<scp><i>SATB2</i>‐associated</scp> syndrome in adolescents and adults (2021)
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Individuals with SATB2-associated syndrome with and without autism have a recognizable metabolic profile and distinctive cellular energy metabolism alterations (2021)
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Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving <i>SATB2</i> (2020)
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<i>De novo</i> coding variants in the <i>AGO1</i> gene cause a neurodevelopmental disorder with intellectual disability (2020)
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JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome (2020)
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Genetic counseling graduate training to address religion and spirituality in clinical practice: A qualitative exploration of programs in North America (2020)
Collaboration Network
Top Collaborators
Yuri A. Zárate
University of Kentucky
24 shared publications
In database
- Natural history and genotype‐phenotype correlations in 72 individuals with <i>SATB2</i>‐associated syndrome
- Mutation update for the <i>SATB2</i> gene
- JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome
- Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving <i>SATB2</i>
- Description of the First Case of Adenomyomatosis of the Gallbladder in an Infant
Showing 5 of 24 shared publications
Elizabeth A. Sellars
University of Arkansas for Medical Sciences
6 shared publications
In database
- Natural history and genotype‐phenotype correlations in 72 individuals with <i>SATB2</i>‐associated syndrome
- <i>COL1A1</i> and <i>COL1A2</i> 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
- Cover Image, Volume 176A, Number 4, April 2018
Showing 5 of 6 shared publications
Aisling R. Caffrey
University of Rhode Island (US)
5 shared publications
- Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving <i>SATB2</i>
- <scp><i>SATB2</i>‐associated</scp> syndrome in adolescents and adults
- Growth in individuals with <i>SATB2</i>‐associated syndrome
- Quantitative Phenotype Morbidity Description of SATB2-Associated Syndrome
- P369: SATB2-associated syndrome severity score: Genotype/phenotype correlations and the SATB2 portal
Elaine H. Zackai
Children's Hospital of Philadelphia (US)
4 shared publications
- Natural history and genotype‐phenotype correlations in 72 individuals with <i>SATB2</i>‐associated syndrome
- Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants
- Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses
- Cover Image, Volume 176A, Number 4, April 2018
Julie Kaylor
Surdna Foundation (US)
4 shared publications
- Natural history and genotype‐phenotype correlations in 72 individuals with <i>SATB2</i>‐associated syndrome
- <i>COL1A1</i> and <i>COL1A2</i> sequencing results in cohort of patients undergoing evaluation for potential child abuse
- First clinical report of an infant with microcephaly and <i>CASC5</i> mutations
- Cover Image, Volume 176A, Number 4, April 2018
Jennifer L. Fish
University of Massachusetts Lowell (US)
4 shared publications
- Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving <i>SATB2</i>
- Dental radiographic findings in 18 individuals with SATB2-associated syndrome
- Abnormalities in pharyngeal arch‐derived structures in SATB2‐associated syndrome
- Bone health in <i>SATB2</i>‐associated syndrome: Results from a large prospective cohort and recommendations for surveillance
G. Bradley Schaefer
Arkansas Children's Hospital (US)
3 shared publications
- A Newborn With Complex Skeletal Abnormalities, Joint Contractures, and Bilateral Corneal Clouding With Sclerocornea
- Additional <i>de novo</i> missense genetic variants in <i><scp>NALCN</scp></i> associated with <scp>CLIFAHDD</scp> syndrome
- Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses
Meena Balasubramanian
Sheffield Children's NHS Foundation Trust (GB)
3 shared publications
- Natural history and genotype‐phenotype correlations in 72 individuals with <i>SATB2</i>‐associated syndrome
- Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving <i>SATB2</i>
- Cover Image, Volume 176A, Number 4, April 2018
Larry D. Hartzell
University of Arkansas for Medical Sciences
3 shared publications
In database
- Dental radiographic findings in 18 individuals with SATB2-associated syndrome
- Quantitative Phenotype Morbidity Description of SATB2-Associated Syndrome
- P369: SATB2-associated syndrome severity score: Genotype/phenotype correlations and the SATB2 portal
Amrit Kannan
University of Arkansas for Medical Sciences (US)
3 shared publications
- Growth in individuals with <i>SATB2</i>‐associated syndrome
- Quantitative Phenotype Morbidity Description of SATB2-Associated Syndrome
- P369: SATB2-associated syndrome severity score: Genotype/phenotype correlations and the SATB2 portal
Adolfo D. Garnica
University of Arkansas for Medical Sciences
2 shared publications
In database
- Recurrent arginine substitutions in the <i>ACTG2</i> gene are the primary driver of disease burden and severity in visceral myopathy
- A Newborn With Complex Skeletal Abnormalities, Joint Contractures, and Bilateral Corneal Clouding With Sclerocornea
Elizabeth Bhoj
Children's Hospital of Philadelphia (US)
2 shared publications
- Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants
- Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses
Debopam Samanta
University of Arkansas for Medical Sciences
2 shared publications
In database
- Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome
- An infant with ash-leaf and café au lait spots: a case of double phakomatosis
Constance Smith‐Hicks
Kennedy Krieger Institute (US)
2 shared publications
- Natural history and genotype‐phenotype correlations in 72 individuals with <i>SATB2</i>‐associated syndrome
- Cover Image, Volume 176A, Number 4, April 2018
Carol L. Greene
University of Maryland, Baltimore (US)
2 shared publications
- Natural history and genotype‐phenotype correlations in 72 individuals with <i>SATB2</i>‐associated syndrome
- Cover Image, Volume 176A, Number 4, April 2018
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