| 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 | 362 | 2010 |
| The evolution of sagittal segmental alignment of the spine during childhood A Cil, M Yazici, A Uzumcugil, U Kandemir, A Alanay, Y Alanay, ... Spine 30 (1), 93-100, 2005 | 332 | 2005 |
| 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 | 252 | 2011 |
| 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 Bögershausen, F Beleggia, S Steiner-Haldenstätt, E Pohl, ... Human molecular genetics 22 (25), 5121-5135, 2013 | 240 | 2013 |
| Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias C Le Goff, C Mahaut, LW Wang, S Allali, A Abhyankar, S Jensen, ... The American Journal of Human Genetics 89 (1), 7-14, 2011 | 240 | 2011 |
| Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly MA Lines, L Huang, J Schwartzentruber, SL Douglas, DC Lynch, ... The American Journal of Human Genetics 90 (2), 369-377, 2012 | 217 | 2012 |
| Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2 R Ha‐Vinh, Y Alanay, RA Bank, AB Campos‐Xavier, A Zankl, ... American journal of medical genetics Part A 131 (2), 115-120, 2004 | 216 | 2004 |
| Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid K Laue, HM Pogoda, PB Daniel, A van Haeringen, Y Alanay, S von Ameln, ... The American Journal of Human Genetics 89 (5), 595-606, 2011 | 187 | 2011 |
| Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity E Lausch, A Janecke, M Bros, S Trojandt, Y Alanay, C De Laet, ... Nature genetics 43 (2), 132-137, 2011 | 180 | 2011 |
| 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 | 161 | 2010 |
| Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy C Simons, LD Rash, J Crawford, L Ma, B Cristofori-Armstrong, D Miller, ... Nature genetics 47 (1), 73-77, 2015 | 149 | 2015 |
| A molecular and clinical study of Larsen syndrome caused by mutations in FLNB LS Bicknell, C Farrington-Rock, Y Shafeghati, P Rump, Y Alanay, ... Journal of medical genetics 44 (2), 89-98, 2007 | 147 | 2007 |
| 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 | 140 | 2009 |
| A mutation screen in patients with Kabuki syndrome Y Li, N Bögershausen, Y Alanay, PÖ Simsek Kiper, N Plume, K Keupp, ... Human genetics 130, 715-724, 2011 | 138 | 2011 |
| XYLT1 mutations in Desbuquois dysplasia type 2 C Bui, C Huber, B Tuysuz, Y Alanay, C Bole-Feysot, JG Leroy, G Mortier, ... The American Journal of Human Genetics 94 (3), 405-414, 2014 | 116 | 2014 |
| Evaluation of prenatal‐onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis D Krakow, Y Alanay, LP Rimoin, V Lin, WR Wilcox, RS Lachman, ... American Journal of Medical Genetics Part A 146 (15), 1917-1924, 2008 | 115 | 2008 |
| The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome PJ van der Sluijs, S Jansen, SA Vergano, M Adachi-Fukuda, Y Alanay, ... Genetics in Medicine 21 (6), 1295-1307, 2019 | 113 | 2019 |
| Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome Z Iqbal, P Cejudo-Martin, A de Brouwer, B van der Zwaag, P Ruiz-Lozano, ... The American Journal of Human Genetics 86 (2), 254-261, 2010 | 110 | 2010 |
| Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial R Savarirayan, L Tofts, M Irving, W Wilcox, CA Bacino, J Hoover-Fong, ... The Lancet 396 (10252), 684-692, 2020 | 109 | 2020 |
| Further characterization of ATP6V0A2-related autosomal recessive cutis laxa B Fischer, A Dimopoulou, J Egerer, T Gardeitchik, A Kidd, D Jost, ... Human genetics 131, 1761-1773, 2012 | 107 | 2012 |
