Berta Estévez‐Arias

The paper presents a framework for interpreting TTN missense variants by integrating clinical, computational, and functional evidence, identifying two variants as likely pathogenic.

The paper presents a standardized RNA-seq analysis framework for rare disease diagnosis, identifying molecular diagnoses in 7.7% of previously undiagnosed cases.

This study shows that partial loss of DOT1L causes transcriptional, morphological, and behavioral defects in neurons across multiple models.