Jelena Pozojevic

发表

GGC expansion in ZFHX3 causes SCA4 and impairs autophagy

M. Spielmann, S. Ossowski, Jeannette Hübener-Schmid, 2023, medRxiv.

A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy.

M. Spielmann, K. Figueroa, O. Riess, 2024, Nature genetics.

STIGMA: Single-cell tissue-specific gene prioritization using machine learning

M. Spielmann, E. Audain, Saranya Balachandran, 2024, American journal of human genetics.