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Fabian Kilpert

5PUBLICATIONS
120CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)
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Journal

Publications (5)

Sort by Publication Date:
|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

Frequent Collaborators

4 joint publications

Christel Depienne

3 joint publications

Elsa Leitão

2 joint publications

Christopher Schröder

2 joint publications

Aurora Pujol

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