Publications

Brock S et al. Defining the phenotypical spectrum associated with variants in TUBB2A. J Med Genet. 2021;58(1):33-40. PMID: 32571897.

Cai S et al. De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay. J Hum Genet. 2020;65(7):601-608. PMID: 32203252.

Cushion TD et al. De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy. Am J Hum Genet. 2014;94(4):634-641. PMID: 24702957.

Ejaz R et al. De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay. Am J Med Genet A. 2017;173(10):2725-2730. PMID: 28840640.

Rodan LH et al. De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria. J Child Neurol. 2017;32(1):127-131. PMID: 27770045.

Sferra A et al. Microtubule Dysfunction: A Common Feature of Neurodegenerative Diseases. Int J Mol Sci. 2020;21(19):E7354. PMID: 33027950.

Schmidt L et al. Expanding the Phenotype of TUBB2A-Related Tubulinopathy: Three Cases of a Novel, Heterozygous TUBB2A Pathogenic Variant p.Gly98Arg. MSY. 2021;12(1):33-40. PMID: 33776625.