Now showing items 1-3 of 3

    • The genetic structure of the Turkish population reveals high levels of variation and admixture 

      Kars, Meltem Ece; Başak, A. N.; Onat, Onur Emre; Bilguvar, K.; Choi, J.; Itan, Y.; Çağlar, C.; Palvadeau, R.; Casanova, J.-L.; Cooper, D. N.; Stenson, P. D.; Yavuz, A.; Buluş, H.; Günel, M.; Friedman, J. M.; Özçelik, Tayfun (National Academy of Sciences, 2020-12-18)
      The construction of population-based variomes has contributed substantially to our understanding of the genetic basis of human inherited disease. Here, we investigated the genetic structure of Turkey from 3,362 unrelated ...
    • Identification of a novel missense mutation in RAD51 in a large family with congenital mirror movements 

      Onat, Onur Emre; Gülsüner, Süleyman; Bilgen, R.; Dal, G. M.; Bilguvar, K.; Boyacı, Hüseyin; Doerschner, Katja; Uysal, H.; Günel, M.; Özçelik, Tayfun (American Society of Human Genetics, 2012-11)
      Congenital mirror movements (CMM) are a rare and heterogeneous group of disorders characterized by involuntary contralateral movements of mainly the upper extremities during intentional movements on the opposite side. ...
    • Recessive LAMC3 mutations cause malformations of occipital cortical development 

      Barak, T.; Kwan, K. Y.; Louvi, A.; Demirbilek, V.; Saygi, S.; Tüysüz, B.; Choi, M.; Boyacı, Hüseyin; Doerschner, Katja; Zhu, Y.; Kaymakçalan, H.; Yilmaz, S.; Bakircioglu, M.; Çağlayan, A. O.; Öztürk, A.K.; Yasuno, K.; Brunken W. J.; Atalar, Ergin; Yalçnkaya, C.; Dinçer, A.; Bronen, R. A.; Mane, S.; Özçelik, Tayfun; Lifton, R. P.; Šestan, N.; Bilgüvar, K.; Günel, M. (Nature Publishing Group, 2011)
      The biological basis for regional and inter-species differences in cerebral cortical morphology is poorly understood. We focused on consanguineous Turkish families with a single affected member with complex bilateral ...