Author

Daniela Choukair

Heidelberg UniversityORCID 0000-0002-1631-3883Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Research Focus:gene regulatory network inference· 2 Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Organism:Drosophila· 1 Approach:experimental assay· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alina KurolapiD· 1 shared Amy Siemon· 1 shared Anja HolziD· 1 shared Arndt BorkhardtiD· 1 shared Ashita Dave‐Wala· 1 shared Cécile LibioulleiD· 1 shared Clara van KarnebeekiD· 1 shared Claudia G. Gonzaga-JaureguiiD· 1 shared

Activity by Year

2021-2021 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alina KurolapORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineScience AdvancesPeer-reviewedMay 12, 2021

Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features

Dong Li, Qin Wang, Naihua Natalie Gong…·Hakon H. Hakonarson

The paper identifies pathogenic variants in SMARCA5 as a cause of a neurodevelopmental syndrome with mild facial dysmorphia and developmental delay.

30 citations

humanDrosophila

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Genetic & Genomic MedicineJournal of Clinical InvestigationPeer-reviewedMay 4, 2021

A human multisystem disorder with autoinflammation, leukoencephalopathy and hepatopathy is caused by mutations in C2orf69

Eva Lausberg, Sebastian Gießelmann, Joseph P. Dewulf…·Florian Kraft

The paper identifies mutations in the C2orf69 gene as the cause of a human multisystem disorder characterized by autoinflammation, leukoencephalopathy, and hepatopathy.

23 citations

humanwhole-exome sequencing

𝕏 PostBluesky