Robin Steinhaus
Overview
Explore the profile of Robin Steinhaus including associated specialties, affiliations and a list of published articles.
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15
Citations
258
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Recent Articles
1.
Hansen P, Blau H, Hecht J, Karlebach G, Krannich A, Steinhaus R, et al.
NAR Genom Bioinform
. 2024 Dec;
6(4):lqae156.
PMID: 39660253
Hi-C and capture Hi-C (CHi-C) both leverage paired-end sequencing of chimeric fragments to gauge the strength of interactions based on the total number of paired-end reads mapped to a common...
2.
Karlebach G, Steinhaus R, Danis D, Devoucoux M, Anczukow O, Sheynkman G, et al.
NPJ Genom Med
. 2024 Nov;
9(1):54.
PMID: 39496626
Numerous factors regulate alternative splicing of human genes at a co-transcriptional level. However, how alternative splicing depends on the regulation of gene expression is poorly understood. We leveraged data from...
3.
Schonberger J, Steinhaus R, Seelow D
Nucleic Acids Res
. 2024 May;
52(W1):W61-W64.
PMID: 38726873
Creating pedigree charts is a recurring task in biomedical research, but there are few online tools for drawing complex human pedigrees available and even fewer are free. With DrawPed we...
4.
Gargano M, Matentzoglu N, Coleman B, Addo-Lartey E, Anagnostopoulos A, Anderton J, et al.
Nucleic Acids Res
. 2023 Nov;
52(D1):D1333-D1346.
PMID: 37953324
The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses...
5.
Karlebach G, Steinhaus R, Danis D, Devoucoux M, Anczukow O, Sheynkman G, et al.
bioRxiv
. 2023 Jul;
PMID: 37398049
Numerous factors regulate alternative splicing of human genes at a co-transcriptional level. However, how alternative splicing depends on the regulation of gene expression is poorly understood. We leveraged data from...
6.
Ladewig M, Jacobsen J, Wagner A, Danis D, El Kassaby B, Gargano M, et al.
Adv Genet (Hoboken)
. 2023 Mar;
4(1):2200016.
PMID: 36910590
The Global Alliance for Genomics and Health (GA4GH) is developing a suite of coordinated standards for genomics for healthcare. The Phenopacket is a new GA4GH standard for sharing disease and...
7.
Jacobsen J, Baudis M, Baynam G, Beckmann J, Beltran S, Buske O, et al.
Nat Biotechnol
. 2022 Jun;
40(6):817-820.
PMID: 35705716
No abstract available.
8.
Steinhaus R, Robinson P, Seelow D
Nucleic Acids Res
. 2022 May;
50(W1):W322-W329.
PMID: 35639768
While great advances in predicting the effects of coding variants have been made, the assessment of non-coding variants remains challenging. This is especially problematic for variants within promoter regions which...
9.
Steinhaus R, Proft S, Seelow E, Schalau T, Robinson P, Seelow D
Nucleic Acids Res
. 2022 May;
50(W1):W677-W681.
PMID: 35524573
Precision medicine needs precise phenotypes. The Human Phenotype Ontology (HPO) uses clinical signs instead of diagnoses and has become the standard annotation for patients' phenotypes when describing single gene disorders....
10.
Steinhaus R, Boschann F, Vogel M, Fischer-Zirnsak B, Seelow D
Nucleic Acids Res
. 2022 Apr;
50(W1):W83-W89.
PMID: 35489060
With the shift from SNP arrays to high-throughput sequencing, most researchers studying diseases in consanguineous families do not rely on linkage analysis any longer, but simply search for deleterious variants...