Edith P. Almanza Fuerte

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

The paper identifies RNU2-2 variants as a frequent cause of neurodevelopmental disorders, both dominant and recessive, in a large cohort of individuals with rare disorders.

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature

This study evaluates genome-wide DNA methylation analysis in genetically unsolved DEEs, identifying 10 causative or candidate genetic causes and refining a CHD2 episignature.

Patient derived model of UBA5-associated encephalopathy identifies defects in neurodevelopment and highlights potential therapies

The paper develops a patient-derived cortical organoid model of UBA5-associated encephalopathy, identifies neurodevelopmental defects, and highlights potential therapeutic strategies.

Targeted long-read sequencing resolves complex structural variants and identifies missing disease-causing variants

This paper introduces targeted long-read sequencing to identify complex structural variants and disease-causing mutations missed by conventional methods, improving diagnostic accuracy in genetic disorders.