Author

Nicole Weisschuh

University of TübingenORCID 0000-0002-1047-6227Unclaimed 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· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Bernd WissingeriD· 1 shared Britta Feldhaus· 1 shared Ditta ZoboriD· 1 shared Frans P.M. CremersiD· 1 shared Muhammad Imran KhaniD· 1 shared Susanne KohliD· 1 shared

Activity by Year

2018-2018 · peak 1/yr

Co-Author Collaboration Network

6 top collaborators · 15 mutual co-author links

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1 shared paperGenetics

Bernd WissingerORCID

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1 paper

Recent·Most cited

GeneticsPLoS ONEPeer-reviewedDec 21, 2018

Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis

Nicole Weisschuh, Britta Feldhaus, Muhammad Imran Khan…·Ditta Zobor

This study analyzes genetic mutations in 27 German LCA patients, identifying 93% pathogenic variants using MIP-based sequencing and highlighting the importance of genetic testing in IRD diagnosis.

45 citations

humanwhole-exome sequencing

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