Publications

Dingemans AJM, Truijen KMG, de Vries BBA, et al.. “Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON.” European Journal of Human Genetics, 2022.

Tokita MJ, Braxton AA, Shao Y, et al.. “De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.” American Journal of Human Genetics, 2016.

Kim JH, Shinde DN, Reijnders MRF, et al.. “De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.” American Journal of Human Genetics, 2016.

Takenouchi T, Miura K, Uehara T, Mizuno S, Kosaki K. “Establishing SON in 21q22.11 as a cause of a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype.” American Journal of Medical Genetics Part A, 2016.

Zhu X, Petrovski S, Xie P, et al.. “Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.” Genetics in Medicine, 2015.