Publications by authors named "Catherine Kiraly-Borri"
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Synopsis of recent research by authors named "Catherine Kiraly-Borri"
- Catherine Kiraly-Borri's recent research primarily focuses on the genetic underpinnings of neurodevelopmental disorders, cancer susceptibility, and the clinical implications of genetic variants, as exemplified by her work on Kleefstra syndrome and RBM10 missense variants.
- Her findings highlight the importance of comprehensive genetic analyses, including whole-genome sequencing, to identify pathogenic variants in individuals and families with unexplained clustering of cancers and neurodevelopmental issues.
- Kiraly-Borri emphasizes a genotype-first approach in diagnostics, revealing novel genotype-phenotype correlations and enhancing the understanding of molecular mechanisms associated with various genetic disorders.
