| Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease E Karaca, T Harel, D Pehlivan, SN Jhangiani, T Gambin, ZC Akdemir, ... Neuron 88 (3), 499-513, 2015 | 309 | 2015 |
| A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling D Wieczorek, N Boegershausen, F Beleggia, S Steiner-Haldenstaett, ... Human molecular genetics 22 (25), 5121-5135, 2013 | 248 | 2013 |
| Rotavirus gastroenteritis among children under five years of age in Izmir, Turkey Z Kurugöl, F Ozkinay, I Yaprak, M Bak, F Vardar, S Erensoy, F Umay, ... The Turkish journal of pediatrics 45 (4), 290-294, 2003 | 225 | 2003 |
| Evaluation of the relationship between caries indices and salivary secretory IgA, salivary pH, buffering capacity and flow rate in children with Down's syndrome D Cogulu, E Sabah, N Kutukculer, F Ozkinay Archives of oral biology 51 (1), 23-28, 2006 | 148 | 2006 |
| Testing the psychosis continuum: differential impact of genetic and nongenetic risk factors and comorbid psychopathology across the entire spectrum of psychosis T Binbay, M Drukker, H Elbi, FA Tanık, F Özkınay, H Onay, N Zağlı, ... Schizophrenia Bulletin 38 (5), 992-1002, 2012 | 139 | 2012 |
| Two genes are responsible for Griscelli syndrome at the same 15q21 locus E Pastural, F Ersoy, N Yalman, N Wulffraat, E Grillo, F Ozkinay, I Tezcan, ... Genomics 63 (3), 299-306, 2000 | 134 | 2000 |
| SMOC1 is essential for ocular and limb development in humans and mice I Okada, H Hamanoue, K Terada, T Tohma, A Megarbane, E Chouery, ... The American Journal of Human Genetics 88 (1), 30-41, 2011 | 124 | 2011 |
| Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice J Rainger, E van Beusekom, JK Ramsay, L McKie, L Al-Gazali, R Pallotta, ... PLoS genetics 7 (7), e1002114, 2011 | 99 | 2011 |
| Cytogenetic abnormalities in 179 cases with male infertility in Western Region of Turkey: report and review M Akgul, F Ozkinay, D Ercal, O Cogulu, O Dogan, B Altay, E Tavmergen, ... Journal of assisted reproduction and genetics 26, 119-122, 2009 | 90 | 2009 |
| Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patients MO Kılınç, VN Ninis, E Dağlı, M Demirkol, F Özkınay, Z Arıkan, Ö Çoğulu, ... American journal of medical genetics 113 (3), 250-257, 2002 | 90 | 2002 |
| MEFV mutations in patients with familial Mediterranean fever from the Aegean region of Turkey H Akin, H Onay, E Turker, O Cogulu, F Ozkinay Molecular biology reports 37, 93-98, 2010 | 89 | 2010 |
| The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation J Schreml, B Durmaz, O Cogulu, K Keupp, F Beleggia, E Pohl, E Milz, ... Human genetics 133, 29-39, 2014 | 84 | 2014 |
| Complications of varicella in healthy children in Izmir, Turkey G Koturoglu, Z Kurugöl, N Çetin, M Hizarcioglu, F Vardar, M Helvaci, ... Pediatrics international 47 (3), 296-299, 2005 | 84 | 2005 |
| Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes I Parenti, ME Teresa-Rodrigo, J Pozojevic, S Ruiz Gil, I Bader, ... Human genetics 136, 307-320, 2017 | 83 | 2017 |
| Comprehensive analysis of deafness genes in families with autosomal recessive nonsyndromic hearing loss T Atik, H Onay, A Aykut, G Bademci, T Kirazli, M Tekin, F Ozkinay PloS one 10 (11), e0142154, 2015 | 82 | 2015 |
| A Novel Homozygous Ala529Val LMNA Mutation in Turkish Patients with Mandibuloacral Dysplasia A Garg, O Cogulu, F Ozkinay, H Onay, AK Agarwal The Journal of Clinical Endocrinology & Metabolism 90 (9), 5259-5264, 2005 | 73 | 2005 |
| Evaluation of 80 children with prolonged fever O Cogulu, G Koturoglu, Z Kurugol, F Ozkinay, F Vardar, C Ozkinay Pediatrics international 45 (5), 564-569, 2003 | 71 | 2003 |
| A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome E Pohl, A Aykut, F Beleggia, E Karaca, B Durmaz, K Keupp, E Arslan, ... Human genetics 132, 1311-1320, 2013 | 67 | 2013 |
| Low levels of mannose-binding lectin confers protection against tuberculosis in Turkish children H Cosar, F Ozkinay, H Onay, N Bayram, AR Bakiler, M Anıl, D Can, ... European journal of clinical microbiology & infectious diseases 27, 1165-1169, 2008 | 65 | 2008 |
| Prospective evaluation of whole genome microRNA expression profiling in childhood acute lymphoblastic leukemia M Duyu, B Durmaz, C Gunduz, C Vergin, D Yilmaz Karapinar, S Aksoylar, ... BioMed research international 2014 (1), 967585, 2014 | 64 | 2014 |
