G

Researcher Profile

Ganka Douglas

2

Publications

121

Citations

10

Co-Authors

2

Active Years

Publications

Open Access Journal Article Kidney International Jun 01, 2019

SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes

Jung-Hyun Kim · Eun Young Park · David Chitayat · David L. Stachura +22 more

10.1016/j.kint.2019.01.025 23 citations

Open Access Journal Article The American Journal of Human Genetics Sep 01, 2016

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

Jung-Hyun Kim · Deepali N. Shinde · Margot R.F. Reijnders · Natalie S. Hauser +60 more

10.1016/j.ajhg.2016.06.029 98 citations

Publication Timeline

2019

1

2016

1

Frequent Co-Authors

Andrea H. Seeley

Kirsty McWalter

Kristine K. Bachman

Deepali N. Shinde

Dagmar Wieczorek