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A systematic approach to mapping recessive disease genes in individuals from outbred populations.
Hildebrandt F, Heeringa SF, Rüschendorf F, Attanasio M, Nürnberg G, Becker C, Seelow D, Huebner N, Chernin G, Vlangos CN, Zhou W, O'Toole JF, Hoskins BE, Wolf MT, Hinkes BG, Chaib H, Ashraf S, Schoeb DS, Ovunc B, Allen SJ, Vega-Warner V, Wise E, Harville HM, Lyons RH, Washburn J, Macdonald J, Nürnberg P, Otto EA. Hildebrandt F, et al. Among authors: seelow d. PLoS Genet. 2009 Jan;5(1):e1000353. doi: 10.1371/journal.pgen.1000353. Epub 2009 Jan 23. PLoS Genet. 2009. PMID: 19165332 Free PMC article.
MutationTaster2021.
Steinhaus R, Proft S, Schuelke M, Cooper DN, Schwarz JM, Seelow D. Steinhaus R, et al. Among authors: seelow d. Nucleic Acids Res. 2021 Jul 2;49(W1):W446-W451. doi: 10.1093/nar/gkab266. Nucleic Acids Res. 2021. PMID: 33893808 Free PMC article.
Deep phenotyping: symptom annotation made simple with SAMS.
Steinhaus R, Proft S, Seelow E, Schalau T, Robinson PN, Seelow D. Steinhaus R, et al. Among authors: seelow d, seelow e. Nucleic Acids Res. 2022 Jul 5;50(W1):W677-W681. doi: 10.1093/nar/gkac329. Nucleic Acids Res. 2022. PMID: 35524573 Free PMC article.
58 results