Fabian Kilpert
5PUBLICATIONS
120CO-AUTHORS
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Publications (5)
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|Sep 03, 2025
Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing.Hannes Erdmann, Annalisa Schaub, Morghan C Lucas
|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.Caroline Nava, Benjamin Cogne, Amandine Santini
|Apr 09, 2025
Repeat Expansions with Small TTTCA Insertions in MARCHF6 Cause Familial Myoclonus without Epilepsy.Theresa Kühnel, Elsa Leitão, Renate Lunzer
|Sep 03, 2024
Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions.Lars Mohren, Friedrich Erdlenbruch, Elsa Leitão
|Jul 15, 2017
Germ line-inherited H3K27me3 restricts enhancer function during maternal-to-zygotic transition.Fides Zenk, Eva Loeser, Rosaria Schiavo
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Frequent Collaborators
4 joint publications
Christel Depienne
3 joint publications
Elsa Leitão
2 joint publications
Christopher Schröder
2 joint publications
Aurora Pujol
2 joint publications
Tobias B Haack
1 joint publications
Angela Abicht
1 joint publications
Ozren Bogdanović
1 joint publications
Nicola Iovino
1 joint publications
Friedrich Erdlenbruch
1 joint publications
G Sebastian Hönes
