| 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 | 241 | 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 | 241 | 2011 |
| Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X‐Linked Kabuki Syndrome Subtype 2 N Bögershausen, V Gatinois, V Riehmer, H Kayserili, J Becker, ... Human mutation 37 (9), 847-864, 2016 | 167 | 2016 |
| 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 |
| Cortical-bone fragility—insights from sFRP4 deficiency in Pyle’s disease PO Simsek Kiper, H Saito, F Gori, S Unger, E Hesse, K Yamana, ... New England Journal of Medicine 374 (26), 2553-2562, 2016 | 135 | 2016 |
| 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 | 115 | 2019 |
| Bi-allelic CSF1R mutations cause skeletal dysplasia of dysosteosclerosis-pyle disease spectrum and degenerative encephalopathy with brain malformation L Guo, DR Bertola, A Takanohashi, A Saito, Y Segawa, T Yokota, ... The American Journal of Human Genetics 104 (5), 925-935, 2019 | 109 | 2019 |
| Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome JC Czeschik, C Voigt, Y Alanay, B Albrecht, S Avci, D Fitzpatrick, ... Human genetics 132, 885-898, 2013 | 86 | 2013 |
| 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 | 83 | 2015 |
| A Homozygous Deletion in GRID2 Causes a Human Phenotype With Cerebellar Ataxia and Atrophy GE Utine, G Haliloğlu, B Salancı, A Çetinkaya, PÖ Kiper, Y Alanay, ... Journal of child neurology 28 (7), 926-932, 2013 | 78 | 2013 |
| Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes NC Bramswig, HJ Lüdecke, Y Alanay, B Albrecht, A Barthelmie, ... Human genetics 134, 553-568, 2015 | 76 | 2015 |
| Further delineation of the KAT6B molecular and phenotypic spectrum T Gannon, R Perveen, H Schlecht, S Ramsden, B Anderson, B Kerr, ... European Journal of Human Genetics 23 (9), 1165-1170, 2015 | 62 | 2015 |
| Expanding the clinical and mutational spectrum of the Ehlers–Danlos syndrome, dermatosparaxis type T Van Damme, A Colige, D Syx, C Giunta, U Lindert, M Rohrbach, ... Genetics in Medicine 18 (9), 882-891, 2016 | 49 | 2016 |
| Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features A Arman, A Bereket, A Coker, PÖŞ Kiper, T Güran, B Özkan, Z Atay, ... Orphanet journal of rare diseases 9, 1-8, 2014 | 49 | 2014 |
| HERC1 mutations in idiopathic intellectual disability GE Utine, EZ Taşkıran, C Koşukcu, B Karaosmanoğlu, N Güleray, ... European Journal of Medical Genetics 60 (5), 279-283, 2017 | 44 | 2017 |
| Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations A Iida, PÖ Simsek‐Kiper, S Mizumoto, T Hoshino, N Elcioglu, ... Human mutation 34 (10), 1381-1386, 2013 | 40 | 2013 |
| IMPAD1 mutations in two Catel‐Manzke like patients M Nizon, Y Alanay, B Tuysuz, POS Kiper, D Geneviève, D Sillence, ... American journal of medical genetics Part A 158 (9), 2183-2187, 2012 | 38 | 2012 |
| Etiological yield of SNP microarrays in idiopathic intellectual disability GE Utine, G Haliloğlu, B Volkan-Salancı, A Çetinkaya, PÖ Kiper, Y Alanay, ... european journal of paediatric neurology 18 (3), 327-337, 2014 | 37 | 2014 |
| SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype M Motta, G Fasano, S Gredy, J Brinkmann, AA Bonnard, PO Simsek-Kiper, ... The American Journal of Human Genetics 108 (11), 2112-2129, 2021 | 36 | 2021 |
| Functional analysis of a duplication (p. E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome S Lorenz, C Lissewski, PO Simsek-Kiper, Y Alanay, K Boduroglu, ... Human molecular genetics 22 (8), 1643-1653, 2013 | 33 | 2013 |
