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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.
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.
MutationDistiller: user-driven identification of pathogenic DNA variants.
Hombach D, Schuelke M, Knierim E, Ehmke N, Schwarz JM, Fischer-Zirnsak B, Seelow D. Hombach D, et al. Among authors: seelow d. Nucleic Acids Res. 2019 Jul 2;47(W1):W114-W120. doi: 10.1093/nar/gkz330. Nucleic Acids Res. 2019. PMID: 31106342 Free PMC article.
d-matrix - database exploration, visualization and analysis.
Seelow D, Galli R, Mebus S, Sperling HP, Lehrach H, Sperling S. Seelow D, et al. BMC Bioinformatics. 2004 Oct 28;5:168. doi: 10.1186/1471-2105-5-168. BMC Bioinformatics. 2004. PMID: 15511298 Free PMC article.
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.
Michalk A, Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, Botta G, Naretto VG, Janetzki C, Yaqoob N, Ott CE, Seelow D, Wieczorek D, Fiebig B, Wirth B, Hoopmann M, Walther M, Körber F, Blankenburg M, Mundlos S, Heller R, Hoffmann K. Michalk A, et al. Among authors: seelow d. Am J Hum Genet. 2008 Feb;82(2):464-76. doi: 10.1016/j.ajhg.2007.11.006. Am J Hum Genet. 2008. PMID: 18252226 Free PMC article.
59 results