Author

Sabine Kaya

Essen University Hospital

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 3 Research Focus:differential expression· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:gene regulatory network inference· 1 Approach:machine learning (classical)· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Christel DepienneiD· 3 shared Christopher SchröderiD· 2 shared Elsa LeitãoiD· 2 shared Frank J. Kaiser· 2 shared Agatha SchlüteriD· 1 shared Agnès Rastetter· 1 shared Alexander P.A. StegmanniD· 1 shared Alma Kuechler· 1 shared

Activity by Year

2021-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

3 shared papersGenetic & Genomic Medicine

Christel DepienneORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Advancing molecular, phenotypic and mechanistic insights of FGF14 pathogenic expansions (SCA27B)

Lars Mohren, Friedrich Erdlenbruch, Elsa Leitão, Fabian Kilpert, Georg Sebastian Hönes, Sabine Kaya, Christopher Schröder, Andreas Gustafsson Thieme, Marc Sturm, Joohyun Park, Agatha Schlüter, Montserrat Ruíz, Moisés Morales de la Prida, Carlos Casasnovas, Kerstin Becker, , Christel Depienne

This study identifies the complete sequences of pathogenic and non-pathogenic FGF14 repeat expansions in patients with cerebellar ataxia, revealing a lower pathogenic threshold and providing mechanistic insights into disease causation.

Nature Communications · Sep 3, 2024Peer-reviewedGenetic & Genomic Medicine

Systematic analysis and prediction of genes associated with disorders on chromosome X

Elsa Leitão, Christopher Schröder, Ilaria Parenti, Carine Dalle, Agnès Rastetter, Theresa Kühnel, Alma Kuechler, Sabine Kaya, Bénédicte Gérard, Élise Schaefer, Caroline Nava, Nathalie Drouot, Camille Engel, Juliette Piard, Bénédicte Duban‐Bedu, , Christel Depienne

The paper systematically analyzes chrX genes to predict disease associations, identifying 235 genes likely involved in disorders and reporting damaging variants in CDK16 and TRPC5 in patients with intellectual disability or autism.

Nature Communications · Nov 2, 2022Peer-reviewedGenetic & Genomic Medicine

Loss of adipocyte phospholipase gene PLAAT3 causes lipodystrophy and insulin resistance due to inactivated arachidonic acid-mediated PPAR signaling

Nika Schuermans, Salima El Chehadeh, Dimitri Hemelsoet, Elke Bogaert, Elke Debackere, Pascale Hilbert, Nike Van Doninck, Marie‐Caroline Taquet, Toon Rosseel, Griet De Clercq, Carole Van Haverbeke, Jean‐Baptiste Chanson, Benoît Funalot, François‐Jérôme Authier, Sabine Kaya, , Bart Dermaut

The paper identifies PLAAT3 loss-of-function mutations in humans causing lipodystrophy and insulin resistance by impairing arachidonic acid-mediated PPAR signaling in adipose tissue.

bioRxiv · Apr 15, 2021 · PreprintGenetics