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Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders G Novarino, AG Fenstermaker, MS Zaki, M Hofree, JL Silhavy, ... science 343 (6170), 506-511, 2014 | 558 | 2014 |
Impaired amino acid transport at the blood brain barrier is a cause of autism spectrum disorder DC Tărlungeanu, E Deliu, CP Dotter, M Kara, PC Janiesch, M Scalise, ... Cell 167 (6), 1481-1494. e18, 2016 | 297 | 2016 |
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration AE Schaffer, VRC Eggens, AO Caglayan, MS Reuter, E Scott, NG Coufal, ... Cell 157 (3), 651-663, 2014 | 285 | 2014 |
Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration K Bilguvar, NK Tyagi, C Ozkara, B Tuysuz, M Bakircioglu, M Choi, S Delil, ... Proceedings of the National Academy of Sciences 110 (9), 3489-3494, 2013 | 212 | 2013 |
The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis M Bakircioglu, OP Carvalho, M Khurshid, JJ Cox, B Tuysuz, T Barak, ... The American Journal of Human Genetics 88 (5), 523-535, 2011 | 186 | 2011 |
Genetic causes of syndromic and non‐syndromic autism AO Caglayan Developmental Medicine & Child Neurology 52 (2), 130-138, 2010 | 171 | 2010 |
GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex N Bahi-Buisson, K Poirier, N Boddaert, C Fallet-Bianco, N Specchio, ... Brain 133 (11), 3194-3209, 2010 | 139 | 2010 |
Recessive LAMC3 mutations cause malformations of occipital cortical development T Barak, KY Kwan, A Louvi, V Demirbilek, S Saygı, B Tüysüz, M Choi, ... Nature genetics 43 (6), 590-594, 2011 | 127 | 2011 |
Somatic POLE mutations cause an ultramutated giant cell high-grade glioma subtype with better prognosis EZ Erson-Omay, AO Çağlayan, N Schultz, N Weinhold, SB Omay, ... Neuro-oncology 17 (10), 1356-1364, 2015 | 125 | 2015 |
Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors K Mishra-Gorur, AO Çağlayan, AE Schaffer, C Chabu, O Henegariu, ... Neuron 84 (6), 1226-1239, 2014 | 120 | 2014 |
Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities F Radmanesh, AO Caglayan, JL Silhavy, C Yilmaz, V Cantagrel, T Omar, ... The American Journal of Human Genetics 92 (3), 468-474, 2013 | 110 | 2013 |
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NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy AO Caglayan, S Comu, JF Baranoski, Y Parman, H Kaymakçalan, ... European journal of medical genetics 58 (1), 39-43, 2015 | 97 | 2015 |
Mutations in MBOAT7, encoding lysophosphatidylinositol acyltransferase I, lead to intellectual disability accompanied by epilepsy and autistic features A Johansen, RO Rosti, D Musaev, E Sticca, R Harripaul, M Zaki, ... The American Journal of Human Genetics 99 (4), 912-916, 2016 | 93 | 2016 |
Apolipoprotein E3/E3 genotype decreases the risk of pituitary dysfunction after traumatic brain injury due to various causes: preliminary data F Tanriverdi, S Taheri, H Ulutabanca, AO Caglayan, Y Ozkul, M Dundar, ... Journal of neurotrauma 25 (9), 1071-1077, 2008 | 92 | 2008 |
Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing RM Lardelli, AE Schaffer, VRC Eggens, MS Zaki, S Grainger, S Sathe, ... Nature genetics 49 (3), 457-464, 2017 | 90 | 2017 |
Biallelic mutations in citron kinase link mitotic cytokinesis to human primary microcephaly H Li, SL Bielas, MS Zaki, S Ismail, D Farfara, K Um, RO Rosti, EC Scott, ... The American Journal of Human Genetics 99 (2), 501-510, 2016 | 81 | 2016 |
Inherited diseases and syndromes leading to aortic aneurysms and dissections AO Caglayan, M Dundar European Journal of Cardio-thoracic surgery 35 (6), 931-940, 2009 | 79 | 2009 |