Polygenic modifiers of expressivity in telomere biology disorders
Michael Poeschla, Uma P. Arora, Amanda J. Walne, Lisa J. McReynolds, Marena Rebekka Niewisch, Neelam Giri, Logan P Zeigler, Alexander Gusev, Mitchell J. Machiela, Hemanth Tummala, Sharon A. Savage, Vijay G. Sankaran
This study identifies polygenic modifiers of expressivity in telomere biology disorders by showing how common and rare genetic variants interact to influence clinical variability.
Journal of Clinical Investigation · Jun 3, 2025Peer-reviewedGenetic & Genomic Medicine