Author

Kathryn F. Oetjens

Observed name: Kathryn Oetjens

Institution: Geisinger Health System

Observed institutions: Autism & Developmental Medicine Institute, Geisinger Health System

OpenAlex ID: A5022265673

Heterozygous variants in SPTBN1 cause intellectual disability and autism

2021 · Jill A. Rosenfeld, Rui Xiao, et al. · American Journal of Medical Genetics Part A · 36

SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis

2023 · Arthur Stefanski, Eduardo Pérez-Palma, et al. · Brain · 26

The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders

2023 · Katrine M. Johannesen, Jimmi Nielsen, et al. · Frontiers in Neuroscience · 11

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification

2026 · Tobias Brünger, Ilona Krey, et al. · medRxiv

Works count: 4

Citation count: 73

H-index: 3

I10-index: 3