Mutations in WNT1 cause different forms of bone fragility K Keupp, F Beleggia, H Kayserili, AM Barnes, M Steiner, O Semler, ... The American Journal of Human Genetics 92 (4), 565-574, 2013 | 297 | 2013 |
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration AE Schaffer, VRC Eggens, AO Caglayan, MS Reuter, E Scott, NG Coufal, ... Cell 157 (3), 651-663, 2014 | 279 | 2014 |
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan T Roscioli, EJ Kamsteeg, K Buysse, I Maystadt, J van Reeuwijk, ... Nature genetics 44 (5), 581-585, 2012 | 226 | 2012 |
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 | 168 | 2016 |
RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6 E Szenker-Ravi, U Altunoglu, M Leushacke, C Bosso-Lefèvre, M Khatoo, ... Nature 557 (7706), 564-569, 2018 | 159 | 2018 |
De novo mutations in PLXND1 and REV3L cause Möbius syndrome L Tomas-Roca, A Tsaalbi-Shtylik, JG Jansen, MK Singh, JA Epstein, ... Nature communications 6 (1), 7199, 2015 | 109 | 2015 |
Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing RM Lardelli, AE Schaffer, VRC Eggens, MS Zaki, S Grainger, S Sathe, ... Nature genetics 49 (3), 457-464, 2017 | 89 | 2017 |
Natural history of congenital generalized lipodystrophy: a nationwide study from Turkey B Akinci, H Onay, T Demir, S Ozen, H Kayserili, G Akinci, B Nur, B Tuysuz, ... The Journal of Clinical Endocrinology & Metabolism 101 (7), 2759-2767, 2016 | 86 | 2016 |
Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome RO Rosti, BN Sotak, SL Bielas, G Bhat, JL Silhavy, AD Aslanger, ... Journal of medical genetics 54 (6), 399-403, 2017 | 76 | 2017 |
Mutations in CDK5RAP2 cause Seckel syndrome G Yigit, KE Brown, H Kayserili, E Pohl, A Caliebe, D Zahnleiter, E Rosser, ... Molecular genetics & genomic medicine 3 (5), 467-480, 2015 | 68 | 2015 |
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes S Roosing, M Romani, M Isrie, RO Rosti, A Micalizzi, D Musaev, T Mazza, ... Journal of medical genetics 53 (9), 608-615, 2016 | 67 | 2016 |
Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome T Atik, A Koparir, G Bademci, J Foster, U Altunoglu, GY Mutlu, S Bowdin, ... Orphanet journal of rare diseases 10, 1-10, 2015 | 55 | 2015 |
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies R Acuna-Hidalgo, P Deriziotis, M Steehouwer, C Gilissen, SA Graham, ... PLoS genetics 13 (3), e1006683, 2017 | 47 | 2017 |
A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome MM Oud, C Bonnard, DA Mans, U Altunoglu, S Tohari, AYJ Ng, A Eskin, ... Cilia 5, 1-11, 2016 | 43 | 2016 |
IL11 is elevated in systemic sclerosis and IL11-dependent ERK signalling underlies TGFβ-mediated activation of dermal fibroblasts E Adami, S Viswanathan, AA Widjaja, B Ng, S Chothani, N Zhihao, J Tan, ... Rheumatology 60 (12), 5820-5826, 2021 | 39 | 2021 |
Loss of PYCR2 causes neurodegeneration by increasing cerebral glycine levels via SHMT2 N Escande-Beillard, A Loh, SN Saleem, K Kanata, Y Hashimoto, ... Neuron 107 (1), 82-94. e6, 2020 | 36 | 2020 |
CDK10 mutations in humans and mice cause severe growth retardation, spine malformations, and developmental delays C Windpassinger, J Piard, C Bonnard, M Alfadhel, S Lim, X Bisteau, ... The American Journal of Human Genetics 101 (3), 391-403, 2017 | 33 | 2017 |
Mild nasal malformations and parietal foramina caused by homozygous ALX4 mutations H Kayserili, U Altunoglu, H Ozgur, S Basaran, ZO Uyguner American journal of medical genetics Part A 158 (1), 236-244, 2012 | 31 | 2012 |
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome) A Rad, U Altunoglu, R Miller, R Maroofian, KN James, AO Çağlayan, ... Journal of medical genetics 56 (5), 332-339, 2019 | 30 | 2019 |
A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling C Bonnard, N Navaratnam, K Ghosh, PW Chan, TT Tan, O Pomp, AYJ Ng, ... Journal of Experimental Medicine 217 (12), e20191561, 2020 | 26 | 2020 |