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Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.
Littink KW, Koenekoop RK, van den Born LI, Collin RW, Moruz L, Veltman JA, Roosing S, Zonneveld MN, Omar A, Darvish M, Lopez I, Kroes HY, van Genderen MM, Hoyng CB, Rohrschneider K, van Schooneveld MJ, Cremers FP, den Hollander AI. Littink KW, et al. Invest Ophthalmol Vis Sci. 2010 Nov;51(11):5943-51. doi: 10.1167/iovs.10-5797. Epub 2010 Jun 16. Invest Ophthalmol Vis Sci. 2010. PMID: 20554613 Free PMC article.
Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study.
McMullan DJ, Bonin M, Hehir-Kwa JY, de Vries BB, Dufke A, Rattenberry E, Steehouwer M, Moruz L, Pfundt R, de Leeuw N, Riess A, Altug-Teber O, Enders H, Singer S, Grasshoff U, Walter M, Walker JM, Lamb CV, Davison EV, Brueton L, Riess O, Veltman JA. McMullan DJ, et al. Hum Mutat. 2009 Jul;30(7):1082-92. doi: 10.1002/humu.21015. Hum Mutat. 2009. PMID: 19388127