Author

Elena Schnabel‐Besson

Heidelberg UniversityORCID 0009-0008-4342-1805Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 2 Approach:statistical model· 2 Organism:human· 1

Frequent Co-Authors

Stefan KölkeriD· 2 shared Ulrike MützeiD· 2 shared Anna T. Reischl‐HajiabadiiD· 1 shared Beate DitzeniD· 1 shared Carlotta Julia MayeriD· 1 shared Christian Patrick SchaafiD· 1 shared Elena Sophia Doll· 1 shared Eva Caroline WinkleriD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Stefan KölkerORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewedFeb 28, 2026

A multi-dimensional framework for establishing and managing a genomic newborn screening program

Elena Schnabel‐Besson, Nicola Dikow, Karla Alex…·Eva Caroline Winkler

The paper develops a multi-dimensional framework for genomic newborn screening programs by defining criteria across clinical, diagnostic, therapeutic, and program management aspects.

4 citationstop 2%

statistical modelbenchmarking

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintApr 9, 2025

Impact of newborn screening on survival and neurocognitive outcome in classic isovaleric aciduria: a meta-analysis

Anna T. Reischl‐Hajiabadi, Sven F. Garbade, Florian Gleich…·Ulrike Mütze

This meta-analysis evaluates the impact of newborn screening on mortality and neurocognitive outcomes in classic isovaleric aciduria, finding reduced symptoms and mortality but not complete prevention of decompensation.

DOI 10.1101/2025.04.09.25325525

humanstatistical model

𝕏 PostBluesky