Concepedia

Stefanie Eggers

SE

Statistics

Publications

27

Citations

1.8K

H-Index

22

Active since

2009

Affiliations

Murdoch Children's Research Institute(Current)

The University of Melbourne

Royal Children's Hospital

Monash University

Victorian Clinical Genetics Services

Stefanie Eggers is an author at Murdoch Children's Research Institute specializing in genetics, life sciences, and molecular genetics.

Publications per year

2009–2024

27

Publications

27

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 · 397 citations · Full text

, , +17

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

Sebastian Lunke, Stefanie Eggers, Meredith Wilson et al. · JAMA · 2020 · 237 citations · Full text

, , +13

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

Sebastian Lunke, Sophie E. Bouffler, Chirag Patel et al. · Nature Medicine · 2023 · 141 citations · Full text

, , +17

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 · 116 citations · Full text

, , +16

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 · 104 citations · Full text

, , +17

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