Stefanie Eggers

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

Stefanie Eggers, Simon Sadedin, Jocelyn A. van den Bergen et al. · Genome biology · 2016 · 382 citations · Full text

Integrated multi-omics for rapid rare disease diagnosis on a national scale

Sebastian Lunke, Sophie E. Bouffler, Chirag Patel et al. · Nature Medicine · 2023 · 122 citations · Full text

Genetic Epidemiology, Diagnosis, Pathology +23

A population‐based cost‐effectiveness study of early genetic testing in severe epilepsies of infancy

Katherine B. Howell, Stefanie Eggers, Kim Dalziel et al. · Epilepsia · 2018 · 112 citations · Full text

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Adam Bournazos, Lisa G. Riley, Shobhana Bommireddipalli et al. · Genetics in Medicine · 2021 · 99 citations

Medicine, Genetics, Rna Splicing +11

A common FADS2 promoter polymorphism increases promoter activity and facilitates binding of transcription factor ELK1

Eva Lattka, Stefanie Eggers, Gabriele Moeller et al. · Journal of Lipid Research · 2009 · 74 citations · Full text

Promoter Activity, Genetics, Genomic Mechanism +18