Author

Peter O. Bauer

Centogene (Germany)ORCID 0000-0003-2811-1354Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Assay:whole-exome sequencing· 2 Research Focus:benchmarking· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Ahmet YeşilyurtiD· 1 shared Alessandro ReaiD· 1 shared Alfredo Cabrera‐OreficeiD· 1 shared Alma Kuechler· 1 shared Alva James· 1 shared Andreas MerkenschlageriD· 1 shared Anja Finck· 1 shared Anju ShuklaiD· 1 shared

Activity by Year

2019-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 16 mutual co-author links

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Curved chords = mutual co-authorship

1 shared paperGenetic & Genomic Medicine

Ahmet YeşilyurtORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedMar 4, 2025

Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.

Huw B. Thomas, Leigh A. M. Demain, Alfredo Cabrera‐Orefice…·William G. Newman

14 citationstop 5%

humanwhole-exome sequencing

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Genetic & Genomic MedicineAnnals of NeurologyPeer-reviewedMar 1, 2025

Plasma glucosylceramide levels are regulated by ATP10D and are not involved in Parkinson's disease pathogenesis.

Emma N. Somerville, Alva James, Christian Beetz…·Ziv Gan‐Or

The paper investigates the role of ATP10D and GlcCer in Parkinson's disease, finding ATP10D regulates plasma GlcCer levels but is not involved in PD pathogenesis.

7 citations

humanstatistical model

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GeneticsbioRxivPreprintMar 26, 2019

Scientific evaluation of negative exome sequencing followed by systematic scoring of candidate genes to decipher the genetics of neurodevelopmental disorders

Benjamin Büttner, Sonja Martin, Anja Finck…·Rami Abou Jamra

The paper evaluates negative exome sequencing in neurodevelopmental disorders by systematically scoring candidate genes to improve prioritization and validation.

1 citation

humanwhole-exome sequencing

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