Author

Christine C. Makowski

München Klinik SchwabingORCID 0009-0002-4457-3794Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Agnès RötigiD· 2 shared Akira OhtakeiD· 2 shared Antònia RibesiD· 2 shared Charlotte L. AlstoniD· 2 shared Costanza LampertiiD· 2 shared Daniele GhezziiD· 2 shared Dominic LenziD· 2 shared Dorota Piekutowska‐AbramczukiD· 2 shared

Activity by Year

2021-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Agnès RötigORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineGenome MedicinePeer-reviewedApr 4, 2022

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Vicente A. Yépez, Mirjana Gušić, Robert Kopajtich…·Holger Prokisch

The paper implements RNA-seq in diagnostics for Mendelian diseases, achieving a 16% diagnosis rate in WES-inconclusive cases by detecting aberrant expression, splicing, and mono-allelic expression.

210 citationstop 1%

humanwhole-exome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintJun 21, 2021

Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes

Sarah L. Stenton, Masaru Shimura, Dorota Piekutowska‐Abramczuk…·Holger Prokisch

This study analyzes 2,023 pediatric exomes to diagnose mitochondrial disease, identifying 1,109 molecular diagnoses and 62 novel disease genes through exome sequencing and functional studies.

11 citations

humanwhole-exome sequencing

𝕏 PostBluesky