Publications
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. Am J Hum Genet 97, 904-13 (2015).
Disruptions in asymmetric centrosome inheritance and WDR62-Aurora kinase B interactions in primary microcephaly. Sci Rep 7, 43708 (2017).
Mutations in Alström protein impair terminal differentiation of cardiomyocytes. Nat Commun 5, 3416 (2014).
ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy. Ann Neurol 87, 217-232 (2020).