General information
Salina, KS
Britton Zuccarelli, MD, MHA, FCNS (Neurology & Child Neurology)
Content Editor
Britton Zuccarelli, MD, MHA, FCNS, currently serves as a content editor for neurology topics and joined Osmosis in June 2024. She practices as a child neurologist and faculty member at the University of Kansas School of Medicine in Salina, Kansas. Britton also holds a master’s degree in healthcare administration and is a Fellow of the Child Neurology Society.
Osmosis Blogs
Publications
- Tambala, D. et al. (2026). ACTA2-Related Multisystemic Smooth Muscle Dysfunction Syndrome: Clinical Features and Multidisciplinary Consensus Recommendations from a Modified Delphi Study. Genetics in Medicine.
- Bayraktutan, M. et al. (2025). ANKRD17-related neurodevelopmental syndrome (Chopra-Amiel-Gordon syndrome): Further characterization and emerging genotype-phenotype correlations. Genetics in Medicine Open, 3, 102108. https://doi.org/10.1016/j.gimo.2025.102108
- Cohen, A. et al. (2024). P868: How many lost diagnoses? Addressing inequitable access to genomic testing for rare diseases in rural populations. Genetics in Medicine Open, 2, 101782. https://doi.org/10.1016/j.gimo.2024.101782
- Cohen, A. et al. (2024). Genomic Answers for Kids: Towards more equitable access to genomic testing for rare diseases in rural populations. The American Journal of Human Genetics. PMC38636509
- McKnight, D. et al. (2022). Genetic Testing to Inform Epilepsy Treatment Management: Results from an International Study of Clinical Practice. JAMA Neurology, 79(12), 1267-1276. PMC9623482
- Wright, C.F. et al. (2021). Non-coding variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms. American Journal of Human Genetics, 108(6), 1083-1094. PMC8206381
- den Hoed, J. et al. (2021). Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction. The American Journal of Human Genetics, 108(2), 346-356. PMC7895900
- Pop, A. et al. (2017). An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CICvariants. Journal of Inherited Metabolic Disorders, 41(2), 169-180. PMC5830478
- Thiffault, T. et al. (2017). Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease. BMC Medical Genetics, 18(124), 1-5.
