Publications

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Author Title [ Year(Desc)]
Filters: Author is Madden, Jill A  [Clear All Filters]
2019
Wojcik, M. H. et al. Infant mortality: the contribution of genetic disorders. J Perinatol 39, 1611-1619 (2019).
Schmitz-Abe, K. et al. Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. Eur J Hum Genet (2019). doi:10.1038/s41431-019-0401-x
2020
Morton, S. U. et al. Congenital Heart Defects Due to Missense Variants. Circ Genom Precis Med 13, e002843 (2020).
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).