Author

Ekkehard Wilichowski

Universitätsmedizin Göttingen

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Johannes Adalbert MayriD· 2 shared Matias WagneriD· 2 shared Saskia Brigitte WortmanniD· 2 shared Adam C. GunningiD· 1 shared Agnès RötigiD· 1 shared Akira OhtakeiD· 1 shared Albert Zishen LimiD· 1 shared Angela PyleiD· 1 shared

Activity by Year

2020-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Johannes Adalbert MayrORCID

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2 papers

Recent·Most cited

Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes

Sarah L. Stenton, Masaru Shimura, Dorota Piekutowska‐Abramczuk, Peter Freisinger, Felix Distelmaier, Johannes Adalbert Mayr, Christine C. Makowski, Boriana Büchner, Bader Alhaddad, Charlotte L. Alston, Anna Ardissone, Rui Ban, Ivo Barić, Riccardo Berutti, Theresa Brunet, , 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.

medRxiv · Jun 21, 2021 · PreprintGenetic & Genomic Medicine

Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes

Zheng Yie Yap, YoHan Park, Saskia Brigitte Wortmann, Adam C. Gunning, Suk‐young Lee, Lita Duraine, Ekkehard Wilichowski, Kate Wilson, Johannes Adalbert Mayr, Matias Wagner, Hong Li, Usha Kini, Emily D. Black, James R. Lupski, Sian Ellard, , Wan Hee Yoon

The paper identifies and functionally characterizes new ATAD3A variants in neurological disorders using exome sequencing and Drosophila models.

bioRxiv · Oct 5, 2020 · PreprintGenetics