Multiple and novel molecular mechanisms in TUBA1A-related tubulinopathy: insights from deep clinical and neuroradiological phenotyping.
James Fasham, Rucha Pandit, Adam T. Higgins, Dowon Kim, Karl Austin‐Muttitt, Anna V. Derrick, Robert Gunn, Maya Matty, Nicola Ragge, Kate Chandler, Gabriela E. Jones, Mohnish Suri, Alison Kraus, Tabib A. Dabir, Katrina Stone, , Abhijit Dixit
The paper identifies novel TUBA1A variants and shows reduced penetrance of malformations of cortical development in tubulinopathies.
medRxiv · Mar 28, 2025 · PreprintGenetic & Genomic Medicine