Concepedia
Statistics
Publications
11
Citations
425
H-Index
Active since
2013
Affiliations
Essen University Hospital(Current)
University of Duisburg-Essen
Institut de génétique et de biologie moléculaire et cellulaire
Université de Strasbourg
Inserm
Sabine Kaya is an author at Essen University Hospital specializing in genetics, life sciences, and genetic disorders.
Publications per year
2013–2025
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3
Rahel T. Florian, Florian Kraft, Elsa Leitão et al. · Nature Communications · 2019 · 170 citations · Full text
Life Sciences, Genetics, Molecular Genetics +16
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X
Elsa Leitão, Christopher Schröder, Ilaria Parenti et al. · Nature Communications · 2022 · 45 citations · Full text
Life Sciences, Bioinformatics, Genetics +17
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
Caroline Nava, Benjamin Cogné, Elsa Leitão et al. · Nature Genetics · 2025 · 42 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions
Lars Mohren, Friedrich Erdlenbruch, Elsa Leitão et al. · Nature Communications · 2024 · 34 citations · Full text
The Origin of the RB1 Imprint
Deniz Kanber, Karin Buiting, Christian Roos et al. · PLoS ONE · 2013 · 25 citations · Full text
Life Sciences, Genetics, Molecular Genetics +15
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