Author

Florian Faschingbauer

Universitätsklinikum Erlangen

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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Genetics· 1

Signature Assays, Organisms & Methods

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Approach:benchmark study· 1 Research Focus:database / resource· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

André ReisiD· 1 shared Anita M. RauchiD· 1 shared Arif Bülent EkiciiD· 1 shared Bernt PoppiD· 1 shared Christian Thomas ThieliD· 1 shared Christiane ZweieriD· 1 shared Cornelia S. KrausiD· 1 shared Georgia VasileiouiD· 1 shared

Activity by Year

2019-2019 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

André ReisORCID

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1 paper

Recent·Most cited

GeneticsPrenatal DiagnosisPeer-reviewedSep 9, 2019

Prenatal diagnosis of HNF1B-associated renal cysts: Need to differentiate intragenic variants from 17q12 microdeletion syndrome?

Georgia Vasileiou, Juliane Hoyer, Christian Thomas Thiel…·Bernt Popp

The paper describes prenatal and postnatal phenotypes of seven individuals with HNF1B aberrations and compares their clinical and genetic data to previous studies, highlighting the need for accurate variant classification.

29 citations

humanwhole-exome sequencing

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