Publications

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Author Title [ Year(Asc)]
Filters: Author is D'Gama, Alissa M  [Clear All Filters]
2021
D'Gama, A. M. et al. Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis. Am J Med Genet A 185, 203-207 (2021).
2019
Qualls, A. E. et al. Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations. Muscle Nerve 59, 357-362 (2019).
2014
Jamuar, S. S. et al. Somatic mutations in cerebral cortical malformations. N Engl J Med 371, 733-43 (2014).