Publications by authors named "Meghan N Bartos"
Direct-to-consumer genome sequencing helps a mother take her child's diagnostic odyssey into her own hands.
Am J Med Genet C Semin Med Genet
November 2024
ANK3 encodes ankyrin-G, a protein involved in neuronal development and signaling. Alternative splicing gives rise to three ankyrin-G isoforms comprising different domains with distinct expression patterns. Mono- or biallelic ANK3 variants are associated with non-specific syndromic intellectual disability in 14 individuals (seven with monoallelic and seven with biallelic variants).
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- The DIP2 gene, first found in fruit flies, is crucial for neuron branching and regeneration, with vertebrate versions (DIP2A, DIP2B, and DIP2C) being highly conserved in the central nervous system.
- Research showed that mutations in DIP2C are linked to developmental delays in expressive language and speech articulation in 23 affected individuals.
- Alongside developmental issues, some individuals with DIP2C variants also presented with various cardiac defects and minor facial anomalies, highlighting a connection between the gene's loss-of-function and neurocognitive and physical phenotypes.
Attitudes on pharmacogenomic results as secondary findings among medical geneticists.
Pharmacogenet Genomics
October 2022
Objectives: As evidence mounts supporting the utility of pharmacogenomic-guided medication management, incorporating pharmacogenomic genes into secondary finding results from sequencing panels is increasingly under consideration. We studied medical geneticists' attitudes on receiving pharmacogenomic results as secondary finding.
Methods: Four focus groups with 16 medical geneticists total were conducted followed by thematic analysis.