Publications

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Author Title [ Year(Desc)]
Filters: Author is Mullen, Thomas E  [Clear All Filters]
2017
Edvardson, S. et al. Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood. Am J Hum Genet 101, 267-273 (2017).
2018
Johnson, K. et al. Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness. Skelet Muscle 8, 23 (2018).
2019
Wojcik, M. H. et al. Infant mortality: the contribution of genetic disorders. J Perinatol 39, 1611-1619 (2019).