List of works - Sebastian Schäfer

A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank-Starling mechanism.

scientific article published on 5 August 2016

Alternative Splicing Signatures in RNA-seq Data: Percent Spliced in (PSI).

scientific article

Author Correction: WWP2 regulates pathological cardiac fibrosis by modulating SMAD2 signaling

scientific article published on 09 September 2019

Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals

scientific article published on 27 May 2020

Coding and non-coding roles of MOCCI (C15ORF48) coordinate to regulate host inflammation and immunity

scientific article published on 09 April 2021

Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes

scientific article published on 17 February 2016

Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.

scientific article published on 13 June 2013

Genomic landscape of rat strain and substrain variation

scientific article published on 6 May 2015

IL-11 is a crucial determinant of cardiovascular fibrosis.

scientific article

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

scientific article

Interleukin-11 is a therapeutic target in idiopathic pulmonary fibrosis

scientific article published on 01 September 2019

Mimicking the inflammatory cell adhesion cascade by nucleic acid aptamer programmed cell-cell interactions.

scientific article

Natural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathy.

scientific article published on 14 September 2017

Protease inhibitor 15, a candidate gene for abdominal aortic internal elastic lamina ruptures in the rat.

scientific article

Quantitative and qualitative proteome characteristics extracted from in-depth integrated genomics and proteomics analysis.

scientific article published on 27 November 2013

RNA-binding protein RBM20 represses splicing to orchestrate cardiac pre-mRNA processing

scientific article

The GYF domain protein CD2BP2 is critical for embryogenesis and podocyte function.

scientific article published on 16 June 2015

Titin-truncating variants affect heart function in disease cohorts and the general population.

scientific article

Translational regulation shapes the molecular landscape of complex disease phenotypes.

scientific article published on 26 May 2015

WWP2 regulates pathological cardiac fibrosis by modulating SMAD2 signaling

scientific article published on 09 August 2019

Wars2 is a determinant of angiogenesis.

scientific article

ZBTB17 ( MIZ1 ) Is Important for the Cardiac Stress Response and a Novel Candidate Gene for Cardiomyopathy and Heart Failure

article

histoneHMM: Differential analysis of histone modifications with broad genomic footprints

scientific article

List of works by Sebastian Schäfer

A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank-Starling mechanism.

Alternative Splicing Signatures in RNA-seq Data: Percent Spliced in (PSI).

Author Correction: WWP2 regulates pathological cardiac fibrosis by modulating SMAD2 signaling

Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals

Coding and non-coding roles of MOCCI (C15ORF48) coordinate to regulate host inflammation and immunity

Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes

Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.

Genomic landscape of rat strain and substrain variation

IL-11 is a crucial determinant of cardiovascular fibrosis.

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

Interleukin-11 is a therapeutic target in idiopathic pulmonary fibrosis

Mimicking the inflammatory cell adhesion cascade by nucleic acid aptamer programmed cell-cell interactions.

Natural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathy.

Protease inhibitor 15, a candidate gene for abdominal aortic internal elastic lamina ruptures in the rat.

Quantitative and qualitative proteome characteristics extracted from in-depth integrated genomics and proteomics analysis.

RNA-binding protein RBM20 represses splicing to orchestrate cardiac pre-mRNA processing

The GYF domain protein CD2BP2 is critical for embryogenesis and podocyte function.

Titin-truncating variants affect heart function in disease cohorts and the general population.

Translational regulation shapes the molecular landscape of complex disease phenotypes.

WWP2 regulates pathological cardiac fibrosis by modulating SMAD2 signaling

Wars2 is a determinant of angiogenesis.

ZBTB17 ( MIZ1 ) Is Important for the Cardiac Stress Response and a Novel Candidate Gene for Cardiomyopathy and Heart Failure

histoneHMM: Differential analysis of histone modifications with broad genomic footprints