Publications by authors named "Patricia Munoz Cabello"
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Synopsis of recent research by authors named "Patricia Munoz Cabello"
- Patricia Munoz Cabello's recent research centers on understanding the genetic underpinnings and phenotypic diversity of various rare disorders, particularly those impacting intellectual function and systemic health, such as Tatton-Brown-Rahman syndrome and TANGO2-related disease.
- Her work includes evaluating the implications of secondary findings in clinical exome sequencing within a Spanish context, highlighting patient choices, prevalence rates, and factors influencing decisions regarding genetic testing outcomes.
- Additionally, Munoz Cabello has contributed to the adaptation and validation of the Genetic Counseling Outcome Scale for Spanish-speaking populations, aiming to improve the assessment of genetic counseling services and their effectiveness in empowering patients.
