Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation von Erken, H., Yariz, K.O., Duman, D., Kaya, C.T., Sayin, T., Heper, A.O., Tekin, M.

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Rare Missense and Synonymous Variants in UBE1 Are Associated with X-Linked Infantile Spinal Muscular Atrophy von Ramser, Juliane, Ahearn, Mary Ellen, Lenski, Claus, Yariz, Kemal O., Hellebrand, Heide, von Rhein, Michael, Clark, Robin D., Schmutzler, Rita K., Lichtner, Peter, Hoffman, Eric P., Meindl, Alfons, Baumbach-Reardon, Lisa

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A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation von Yariz, K.O., Sakalar, Y.B., Jin, X., Hertz, J., Sener, E.F., Akay, H., Özbek, M.N., Farooq, A., Goldberg, J., Tekin, M.

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A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss von Yariz, KO, Walsh, T, Akay, H, Duman, D, Akkaynak, AC, King, M-C, Tekin, M

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X-linked infantile spinal muscular atrophy: clinical definition and molecular mapping von Dressman, Devin, Ahearn, Mary Ellen, Yariz, Kemal O, Basterrecha, Hugo, Martínez, Francisco, Palau, Francesc, Barmada, M Michael, Clark, Robin Dawn, Meindl, Alfons, Wirth, Brunhilde, Hoffman, Eric P, Baumbach-Reardon, Lisa

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