Author

Annabelle Arlt

University Hospital BonnORCID 0009-0005-7268-1567Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alexander HustinxiD· 1 shared Alexej KnausiD· 1 shared Ekanem Nsikak EkureiD· 1 shared Hannah KlinkhammeriD· 1 shared Meghna Ahuja BhasiniD· 1 shared Peter Michael KrawitziD· 1 shared Shahida MoosaiD· 1 shared Tzung‐Chien HsiehiD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

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8 top collaborators · 28 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alexander HustinxORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineAmerican Journal of Medical Genetics Part APeer-reviewedMay 9, 2024

Next-generation phenotyping in Nigerian children with Cornelia de Lange Syndrome

Annabelle Arlt, Alexej Knaus, Tzung‐Chien Hsieh…·Ekanem Nsikak Ekure

The paper uses next-generation phenotyping to identify Cornelia de Lange Syndrome in Nigerian children through phenotypic similarity and exome sequencing.

3 citations

humanwhole-exome sequencing

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