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Parametric and nonparametric linkage analysis: a unified multipoint approach - PubMed

  • The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss.

    de Bruijn SE, Fadaie Z, Cremers FPM, Kremer H, Roosing S. de Bruijn SE, et al. Int J Mol Sci. 2021 Mar 14;22(6):2943. doi: 10.3390/ijms22062943. Int J Mol Sci. 2021. PMID: 33799353 Free PMC article. Review.

  • Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.

    Chaki M, Airik R, Ghosh AK, Giles RH, Chen R, Slaats GG, Wang H, Hurd TW, Zhou W, Cluckey A, Gee HY, Ramaswami G, Hong CJ, Hamilton BA, Cervenka I, Ganji RS, Bryja V, Arts HH, van Reeuwijk J, Oud MM, Letteboer SJ, Roepman R, Husson H, Ibraghimov-Beskrovnaya O, Yasunaga T, Walz G, Eley L, Sayer JA, Schermer B, Liebau MC, Benzing T, Le Corre S, Drummond I, Janssen S, Allen SJ, Natarajan S, O'Toole JF, Attanasio M, Saunier S, Antignac C, Koenekoop RK, Ren H, Lopez I, Nayir A, Stoetzel C, Dollfus H, Massoudi R, Gleeson JG, Andreoli SP, Doherty DG, Lindstrad A, Golzio C, Katsanis N, Pape L, Abboud EB, Al-Rajhi AA, Lewis RA, Omran H, Lee EY, Wang S, Sekiguchi JM, Saunders R, Johnson CA, Garner E, Vanselow K, Andersen JS, Shlomai J, Nurnberg G, Nurnberg P, Levy S, Smogorzewska A, Otto EA, Hildebrandt F. Chaki M, et al. Cell. 2012 Aug 3;150(3):533-48. doi: 10.1016/j.cell.2012.06.028. Cell. 2012. PMID: 22863007 Free PMC article.

  • Detection of susceptibility loci by genome-wide linkage analysis.

    Babron MC, Bourgain C, Leutenegger AL, Clerget-Darpoux F. Babron MC, et al. BMC Genet. 2005 Dec 30;6 Suppl 1(Suppl 1):S18. doi: 10.1186/1471-2156-6-S1-S18. BMC Genet. 2005. PMID: 16451626 Free PMC article.

  • A comparison between microsatellite and single-nucleotide polymorphism markers with respect to two measures of information content.

    Thalamuthu A, Mukhopadhyay I, Ray A, Weeks DE. Thalamuthu A, et al. BMC Genet. 2005 Dec 30;6 Suppl 1(Suppl 1):S27. doi: 10.1186/1471-2156-6-S1-S27. BMC Genet. 2005. PMID: 16451636 Free PMC article.