Author

Ekanem Nsikak Ekure

University of LagosORCID 0000-0002-8257-1864Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Approach:experimental assay· 1 Assay:imaging· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alexander HustinxiD· 2 shared Alexej KnausiD· 2 shared Hannah KlinkhammeriD· 2 shared Shahida MoosaiD· 2 shared Agustí Rodríguez‐PalmeroiD· 1 shared Alessandro Mauro SpinelliiD· 1 shared Amaia Lasa‐AranzastiiD· 1 shared Amal Mohamed· 1 shared

Activity by Year

2023-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alexander HustinxORCID

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2 papers

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

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintJun 6, 2023

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

Hellen Lesmann, Alexander Hustinx, Shahida Moosa…·Miray Karakoyun

The paper introduces the GestaltMatcher Database (GMDB), a global facial phenotypic reference for rare diseases, showing improved NGP performance with diverse ancestry data.

28 citations

humanimaging

𝕏 PostBluesky