Author

Janina Gburek‐Augustat

University Hospital LeipzigORCID 0000-0003-1827-1434Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:statistical model· 2 Organism:human· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Rami Abou JamraiD· 2 shared Alex Michael PagnozziiD· 1 shared Andreas MerkenschlageriD· 1 shared Andreas RumpiD· 1 shared Anju ShuklaiD· 1 shared Bernt PoppiD· 1 shared Chiara KlöckneriD· 1 shared Christopher R. McMasteriD· 1 shared

Activity by Year

2022-2022 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Rami Abou JamraORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Genetic & Genomic MedicineClinical GeneticsPeer-reviewedOct 3, 2022

A novel syndrome caused by the constitutional gain-of-function variant p.Glu1099Lys in NSD2

Bernt Popp, Melanie Brügger, Sibylle Poschmann…·Theresa Brunet

The paper identifies a novel syndrome caused by the gain-of-function variant p.Glu1099Lys in NSD2, leading to distinct clinical features compared to loss-of-function variants.

5 citations

humanwhole-exome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicineBrainPeer-reviewedFeb 21, 2022

Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly

Chiara Klöckner, J. Pedro Fernández-Murray, Mahtab Tavasoli…·Konrad Platzer

The paper identifies bi-allelic CHKA variants causing a neurodevelopmental disorder with epilepsy and microcephaly through functional analysis in yeast.

17 citations

statistical model

𝕏 PostBluesky