K

Researcher Profile

Kristine K. Bachman

3

Publications

123

Citations

10

Co-Authors

3

Active Years

Publications

Open Access Journal Article Nature Genetics Oct 22, 2025

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

Reza Asadollahi · Aisha Ahmad · Paranchai Boonsawat · Jasmine Shahanoor Hinzen +146 more

10.1038/s41588-025-02361-5 2 citations

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

2025

1

2019

1

2016

1

Frequent Co-Authors

Andrea H. Seeley

Kirsty McWalter

Deepali N. Shinde

Dagmar Wieczorek

Joshua K. Stone

Kristin Lindstrom