Publications by authors named "Roser Lleuger-Pujol"
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Synopsis of recent research by authors named "Roser Lleuger-Pujol"
- Roser Lleuger-Pujol's research focuses on the genetic underpinnings of neurodevelopmental disorders and cancer syndromes, emphasizing the implications of specific gene variants and their phenotypic expressions in affected individuals
- Recent findings include the identification of ZFHX4 gene variants leading to developmental delays and intellectual disabilities in a diverse cohort, as well as a detailed analysis of cancer risks associated with the PTEN Hamartoma Tumor Syndrome, aiming for more personalized risk assessments
- Lleuger-Pujol has also contributed to the evaluation of genetic counseling services by validating the Spanish adaptation of the Genetic Counseling Outcome Scale, which enhances understanding of patient empowerment in genetic counseling contexts
