| Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly LA Lettice, T Horikoshi, SJH Heaney, MJ van Baren, HC van der Linde, ... Proceedings of the national academy of sciences 99 (11), 7548-7553, 2002 | 565 | 2002 |
| Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder R Segurado, SD Detera-Wadleigh, DF Levinson, CM Lewis, M Gill, ... The American Journal of Human Genetics 73 (1), 49-62, 2003 | 555 | 2003 |
| Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta Y Alanay, H Avaygan, N Camacho, GE Utine, K Boduroglu, D Aktas, ... The American Journal of Human Genetics 86 (4), 551-559, 2010 | 374 | 2010 |
| Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity M Sarfarazi, NA Akarsu, A Hossain, EM Turacli, GS Aktan, ... Genomics 30 (2), 171-177, 1995 | 350 | 1995 |
| 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 |
| A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7 P Bayrak‐Toydemir, J McDonald, N Akarsu, RM Toydemir, F Calderon, ... American journal of medical genetics Part A 140 (20), 2155-2162, 2006 | 293 | 2006 |
| KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes A Putoux, S Thomas, KLM Coene, EE Davis, Y Alanay, G Ogur, E Uz, ... Nature genetics 43 (6), 601-606, 2011 | 258 | 2011 |
| Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish PV Asharani, K Keupp, O Semler, W Wang, Y Li, H Thiele, G Yigit, E Pohl, ... The American Journal of Human Genetics 90 (4), 661-674, 2012 | 245 | 2012 |
| The effect of depression, BDNF gene val66met polymorphism and gender on serum BDNF levels E Ozan, H Okur, Ç Eker, ÖD Eker, AS Gönül, N Akarsu Brain research bulletin 81 (1), 61-65, 2010 | 177 | 2010 |
| Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features R Carapito, M Konantz, C Paillard, Z Miao, A Pichot, MS Leduc, Y Yang, ... The Journal of clinical investigation 127 (11), 4090-4103, 2017 | 168 | 2017 |
| Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia E Uz, Y Alanay, D Aktas, I Vargel, S Gucer, G Tuncbilek, F von Eggeling, ... The American Journal of Human Genetics 86 (5), 789-796, 2010 | 165 | 2010 |
| A specific mutation in the distant sonic hedgehog (SHH) cis‐regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications … D Wieczorek, B Pawlik, Y Li, NA Akarsu, A Caliebe, KJW May, ... Human mutation 31 (1), 81-89, 2010 | 151 | 2010 |
| ALX4 dysfunction disrupts craniofacial and epidermal development H Kayserili, E Uz, C Niessen, I Vargel, Y Alanay, G Tuncbilek, G Yigit, ... Human molecular genetics 18 (22), 4357-4366, 2009 | 146 | 2009 |
| Disruption of PTPRO causes childhood-onset nephrotic syndrome F Ozaltin, T Ibsirlioglu, EZ Taskiran, DE Baydar, F Kaymaz, M Buyukcelik, ... The American Journal of Human Genetics 89 (1), 139-147, 2011 | 142 | 2011 |
| Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy H Gundesli, B Talim, P Korkusuz, B Balci-Hayta, S Cirak, NA Akarsu, ... The American Journal of Human Genetics 87 (6), 834-841, 2010 | 138 | 2010 |
| Evidence from autoimmune thyroiditis of skewed X-chromosome inactivation in female predisposition to autoimmunity T Ozcelik, E Uz, CB Akyerli, S Bagislar, CA Mustafa, A Gursoy, N Akarsu, ... European Journal of Human Genetics 14 (6), 791-797, 2006 | 131 | 2006 |
| Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans T Ozcelik, N Akarsu, E Uz, S Caglayan, S Gulsuner, OE Onat, M Tan, ... Proceedings of the National Academy of Sciences 105 (11), 4232-4236, 2008 | 124 | 2008 |
| Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome E Kalay, O Sezgin, V Chellappa, M Mutlu, H Morsy, H Kayserili, E Kreiger, ... The American Journal of Human Genetics 90 (1), 76-85, 2012 | 119 | 2012 |
| Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36 J Zguricas, H Heus, E Morales-Peralta, G Breedveld, B Kuyt, EF Mumcu, ... Journal of Medical Genetics 36 (1), 33-40, 1999 | 108 | 1999 |
| Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon‐like craniosynostosis K Keupp, Y Li, I Vargel, A Hoischen, R Richardson, K Neveling, Y Alanay, ... Molecular genetics & genomic medicine 1 (4), 223-237, 2013 | 81 | 2013 |
