Hülya Kayserili

Hülya Kayserili

Koç University - İstanbul / Türkiye
Medical and Health Sciences / Medical Genetics
AD Scientific Index ID: 210566
Koç Üniversitesi
person_outline Hülya Kayserili's MOST POPULAR ARTICLES
1-) Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactionsDG Lupiáñez, K Kraft, V Heinrich, P Krawitz, F Brancati, E Klopocki, ...Cell 161 (5), 1012-1025, 201518962015
2-) Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2)P Revy, T Muto, Y Levy, F Geissmann, A Plebani, O Sanal, N Catalan, ...Cell 102 (5), 565-575, 200018892000
3-) Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndromeDBV de Bernabé, S Currier, A Steinbrecher, J Celli, E Van Beusekom, ...The American Journal of Human Genetics 71 (5), 1033-1043, 20027772002
4-) Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disordersG Novarino, AG Fenstermaker, MS Zaki, M Hofree, JL Silhavy, ...science 343 (6170), 506-511, 20145712014
5-) Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesionH Vega, Q Waisfisz, M Gordillo, N Sakai, I Yanagihara, M Yamada, ...Nature genetics 37 (5), 468-470, 20054342005