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Whole-genome copy-number analysis identifies new leads for chromosomal aberrations involved in the oncogenesis and metastastic behavior of uveal melanomas.
van Engen-van Grunsven AC, Baar MP, Pfundt R, Rijntjes J, Küsters-Vandevelde HV, Delbecq AL, Keunen JE, Klevering JB, Wesseling P, Blokx WA, Groenen PJ. van Engen-van Grunsven AC, et al. Among authors: klevering jb. Melanoma Res. 2015 Jun;25(3):200-9. doi: 10.1097/CMR.0000000000000152. Melanoma Res. 2015. PMID: 25756553
Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa.
Olivier G, Corton M, Intartaglia D, Verbakel SK, Sergouniotis PI, Le Meur G, Dhaenens CM, Naacke H, Avila-Fernández A, Hoyng CB, Klevering J, Bocquet B, Roubertie A, Sénéchal A, Banfi S, Muller A, Hamel CL, Black GC, Conte I, Roosing S, Zanlonghi X, Ayuso C, Meunier I, Manes G. Olivier G, et al. J Med Genet. 2021 Aug;58(8):570-578. doi: 10.1136/jmedgenet-2020-107150. Epub 2020 Aug 17. J Med Genet. 2021. PMID: 32817297