Author

Meghna Ahuja Bhasin

University Hospital BonnORCID 0009-0000-2944-6880Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Research Focus:differential expression· 1 Assay:imaging· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Hannah KlinkhammeriD· 2 shared Peter Michael KrawitziD· 2 shared Tzung‐Chien HsiehiD· 2 shared Alexander HustinxiD· 1 shared Alexej KnausiD· 1 shared Annabelle ArltiD· 1 shared Bharatendu ChandraiD· 1 shared Dimah Saade· 1 shared

Activity by Year

2024-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Hannah KlinkhammerORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintFeb 12, 2025

Leveraging next-generation phenotyping for ACMG classification from VUS to likely pathogenic in Mowat-Wilson syndrome

Tzung‐Chien Hsieh, Dylan Todd, Taylor Warner…·Bharatendu Chandra

The paper reclassifies a variant of uncertain significance as likely pathogenic in Mowat-Wilson syndrome using next-generation phenotyping and multimodal data integration.

DOI 10.1101/2025.02.12.25321927

humanimaging

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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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