Cengiz Yalçınkaya

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

Kaya Bilgüvar, Ali K. Ozturk, Angeliki Louvi et al. · Nature · 2010 · 496 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration

Ashleigh E. Schaffer, Veerle Rc Eggens, Ahmet Okay Çağlayan et al. · Cell · 2014 · 283 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration

Kaya Bilgüvar, Navneet K. Tyagi, Çiğdem Özkara et al. · Proceedings of the National Academy of Sciences · 2013 · 190 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study

Christel Depienne, Marianna Bugiani, Céline Dupuits et al. · The Lancet Neurology · 2013 · 184 citations · Full text

Medicine, Neurology, Neuroscience +13

Recessive LAMC3 mutations cause malformations of occipital cortical development

Tanyeri Barak, Kenneth Y. Kwan, Angeliki Louvi et al. · Nature Genetics · 2011 · 118 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14