Minas Drakos

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.

The paper investigates how ASC proneural transcription factors regulate chromatin accessibility and neural specification during neuroblast transition, showing their role in progeny fidelity.