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Sarah C. Grünert

University Medical Center Freiburg

ORCID: 0000-0001-5986-0468

166 papers and 4.7k citations.

PubIndex Score98Top 2% · mid-careerHow it's scored

166Publications

4.7kTotal Citations

First senior author: 2016

Top publicationsby citations

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

Matthias R. Baumgartner, Anupam Chakrapani, Alberto Burlina et al.|Orphanet Journal of Rare Diseases|2014

Cited by 713

A Common Mutation Is Associated with a Mild, Potentially Asymptomatic Phenotype in Patients with Isovaleric Acidemia Diagnosed by Newborn Screening

Regina Ensenauer, Dietrich Matern, Jerry Vockley et al.|The American Journal of Human Genetics|2004

Cited by 167

Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire

Sarah C. Grünert, Hester C. Schuman, Terry G. J. Derks et al.|Genetics in Medicine|2022

Cited by 64

Coupling metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and human traits

Nora Scherer, Anna Köttgen, Daniel Fässler et al.|Nature Genetics|2025

Cited by 13

Coupling of metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and resulting traits and diseases

Nora Scherer, Anna Köttgen, Daniel Fässler et al.|medRxiv|2023

Cited by 3

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