Seelow D - Search Results

1

GA4GH Phenopackets: A Practical Introduction.

Ladewig MS, Jacobsen JOB, Wagner AH, Danis D, El Kassaby B, Gargano M, Groza T, Baudis M, Steinhaus R, Seelow D, Bechrakis NE, Mungall CJ, Schofield PN, Elemento O, Smith L, McMurry JA, Munoz-Torres M, Haendel MA, Robinson PN. Ladewig MS, et al. Among authors: seelow d. Adv Genet (Hoboken). 2022 Aug 25;4(1):2200016. doi: 10.1002/ggn2.202200016. eCollection 2023 Mar. Adv Genet (Hoboken). 2022. PMID: 36910590 Free PMC article.

2

AssociationDB: web-based exploration of genomic association.

Seelow D, Hoffmann K, Lindner TH. Seelow D, et al. Bioinformatics. 2007 Oct 1;23(19):2643-4. doi: 10.1093/bioinformatics/btm376. Epub 2007 Jul 27. Bioinformatics. 2007. PMID: 17660207

3

Clinical application of whole exome sequencing reveals a novel compound heterozygous TK2-mutation in two brothers with rapidly progressive combined muscle-brain atrophy, axonal neuropathy, and status epilepticus.

Knierim E, Seelow D, Gill E, von Moers A, Schuelke M. Knierim E, et al. Among authors: seelow d. Mitochondrion. 2015 Jan;20:1-6. doi: 10.1016/j.mito.2014.10.007. Epub 2014 Nov 4. Mitochondrion. 2015. PMID: 25446393

4

GrabBlur--a framework to facilitate the secure exchange of whole-exome and -genome SNV data using VCF files.

Stade B, Seelow D, Thomsen I, Krawczak M, Franke A. Stade B, et al. Among authors: seelow d. BMC Genomics. 2014;15 Suppl 4(Suppl 4):S8. doi: 10.1186/1471-2164-15-S4-S8. Epub 2014 May 20. BMC Genomics. 2014. PMID: 25055742 Free PMC article.

5

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.

Robinson PN, Köhler S, Bauer S, Seelow D, Horn D, Mundlos S. Robinson PN, et al. Among authors: seelow d. Am J Hum Genet. 2008 Nov;83(5):610-5. doi: 10.1016/j.ajhg.2008.09.017. Epub 2008 Oct 23. Am J Hum Genet. 2008. PMID: 18950739 Free PMC article.

6

Improved exome prioritization of disease genes through cross-species phenotype comparison.

Robinson PN, Köhler S, Oellrich A; Sanger Mouse Genetics Project; Wang K, Mungall CJ, Lewis SE, Washington N, Bauer S, Seelow D, Krawitz P, Gilissen C, Haendel M, Smedley D. Robinson PN, et al. Among authors: seelow d. Genome Res. 2014 Feb;24(2):340-8. doi: 10.1101/gr.160325.113. Epub 2013 Oct 25. Genome Res. 2014. PMID: 24162188 Free PMC article.

7

A systematic, large-scale comparison of transcription factor binding site models.

Hombach D, Schwarz JM, Robinson PN, Schuelke M, Seelow D. Hombach D, et al. Among authors: seelow d. BMC Genomics. 2016 May 21;17:388. doi: 10.1186/s12864-016-2729-8. BMC Genomics. 2016. PMID: 27209209 Free PMC article.

8

Erratum to: A systematic, large-scale comparison of transcription factor binding site models.

Hombach D, Schwarz JM, Robinson PN, Schuelke M, Seelow D. Hombach D, et al. Among authors: seelow d. BMC Genomics. 2016 Jul 20;17(1):502. doi: 10.1186/s12864-016-2818-8. BMC Genomics. 2016. PMID: 27440159 Free PMC article. No abstract available.

9

Harmonising phenomics information for a better interoperability in the rare disease field.

Maiella S, Olry A, Hanauer M, Lanneau V, Lourghi H, Donadille B, Rodwell C, Köhler S, Seelow D, Jupp S, Parkinson H, Groza T, Brudno M, Robinson PN, Rath A. Maiella S, et al. Among authors: seelow d. Eur J Med Genet. 2018 Nov;61(11):706-714. doi: 10.1016/j.ejmg.2018.01.013. Epub 2018 Feb 7. Eur J Med Genet. 2018. PMID: 29425702 Review.

10

Pervasive and CpG-dependent promoter-like characteristics of transcribed enhancers.

Steinhaus R, Gonzalez T, Seelow D, Robinson PN. Steinhaus R, et al. Among authors: seelow d. Nucleic Acids Res. 2020 Jun 4;48(10):5306-5317. doi: 10.1093/nar/gkaa223. Nucleic Acids Res. 2020. PMID: 32338759 Free PMC article.

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