Human microphthalmia associated with mutations in the retinal homeobox gene CHX10 E Ferda Percin, LA Ploder, JJ Yu, K Arici, D Jonathan Horsford, ... Nature genetics 25 (4), 397-401, 2000 | 335 | 2000 |
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome H van Bokhoven, J Celli, H Kayserili, E van Beusekom, S Balci, W Brussel, ... Nature genetics 25 (4), 423-426, 2000 | 328 | 2000 |
Blood-derived human iPS cells generate optic vesicle–like structures with the capacity to form retinal laminae and develop synapses MJ Phillips, KA Wallace, SJ Dickerson, MJ Miller, AD Verhoeven, ... Investigative ophthalmology & visual science 53 (4), 2007-2019, 2012 | 244 | 2012 |
LRP4 mutations alter Wnt/β-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome Y Li, B Pawlik, N Elcioglu, M Aglan, H Kayserili, G Yigit, F Percin, ... The American Journal of Human Genetics 86 (5), 696-706, 2010 | 185 | 2010 |
Modeling human retinal development with patient-specific induced pluripotent stem cells reveals multiple roles for visual system homeobox 2 MJ Phillips, ET Perez, JM Martin, ST Reshel, KA Wallace, EE Capowski, ... Stem cells 32 (6), 1480-1492, 2014 | 137 | 2014 |
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism JJ Reynolds, LS Bicknell, P Carroll, MR Higgs, R Shaheen, JE Murray, ... Nature genetics 49 (4), 537-549, 2017 | 102 | 2017 |
RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome N Bögershausen, IC Tsai, E Pohl, PÖS Kiper, F Beleggia, EF Percin, ... The Journal of clinical investigation 125 (9), 3585-3599, 2015 | 87 | 2015 |
Y chromosome azoospermia factor region microdeletions and recurrent pregnancy loss A Karaer, K Karaer, G Ozaksit, S Ceylaner, EF Percin American journal of obstetrics and gynecology 199 (6), 662. e1-662. e5, 2008 | 72 | 2008 |
Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis S Boppudi, N Bögershausen, HB Hove, EF Percin, D Aslan, R Dvorsky, ... Clinical genetics 90 (4), 334-342, 2016 | 67 | 2016 |
Lrp4 regulates initiation of ureteric budding and is crucial for kidney formation–a mouse model for Cenani-Lenz syndrome CM Karner, MF Dietrich, EB Johnson, N Kappesser, C Tennert, F Percin, ... PloS one 5 (4), e10418, 2010 | 65 | 2010 |
Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome MS Hussain, A Battaglia, S Szczepanski, E Kaygusuz, MR Toliat, ... The American Journal of Human Genetics 95 (5), 622-632, 2014 | 48 | 2014 |
TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia Y Alanay, B Ergüner, E Utine, O Haçarız, POS Kiper, EZ Taşkıran, ... American Journal of Medical Genetics Part A 164 (2), 291-304, 2014 | 35 | 2014 |
HACE1 deficiency leads to structural and functional neurodevelopmental defects V Nagy, R Hollstein, TP Pai, MK Herde, P Buphamalai, P Moeseneder, ... Neurology: Genetics 5 (3), e330, 2019 | 34 | 2019 |
Thiopurine methyltransferase polymorphisms and mercaptopurine tolerance in Turkish children with acute lymphoblastic leukemia M Albayrak, U Konyssova, Z Kaya, T Gursel, S Guntekin, EF Percin, ... Cancer chemotherapy and pharmacology 68, 1155-1159, 2011 | 33 | 2011 |
Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type S Malik, FE Percin, D Bornholdt, B Albrecht, A Percesepe, MC Koch, ... The American Journal of Human Genetics 95 (6), 649-659, 2014 | 31 | 2014 |
ABCB1 C3435T polymorphism is associated with susceptibility to major depression, but not with a clinical response to citalopram in a Turkish population G Ozbey, B Yucel, SE Taycan, D Kan, NE Bodur, T Arslan, F Percin, ... Pharmacological Reports 66 (2), 235-238, 2014 | 31 | 2014 |
A Turkish family with Nance-Horan Syndrome due to a novel mutation E Tug, NF Dilek, S Javadiyan, KP Burdon, FE Percin Gene 525 (1), 141-145, 2013 | 30 | 2013 |
Association of microsomal epoxide hydrolase gene polymorphism and pre‐eclampsia in Turkish women E Pinarbasi, FE Percin, M Yilmaz, E Akgun, M Cetin, A Cetin Journal of Obstetrics and Gynaecology Research 33 (1), 32-37, 2007 | 26 | 2007 |
Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13. 3 S Malik, FE Percin, W Ahmad, S Percin, NA Akarsu, MC Koch, ... American Journal of Medical Genetics Part A 134 (4), 404-408, 2005 | 26 | 2005 |
Influence of ABCB1 polymorphisms and serum concentrations on venlafaxine response in patients with major depressive disorder G Ozbey, FC Celikel, BE Cumurcu, D Kan, B Yucel, E Hasbek, F Percin, ... Nordic journal of psychiatry 71 (3), 230-237, 2017 | 25 | 2017 |