Follow
Umut Altunoglu
Umut Altunoglu
Medical Genetics Department, Koc University School of Medicine
Verified email at ku.edu.tr - Homepage
Title
Cited by
Cited by
Year
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
2962013
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
2792014
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
2252012
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
1672016
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
1582018
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
1072015
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
882017
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
862016
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
762017
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
682015
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
672016
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
552015
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
462017
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
432016
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
392021
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
352020
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
332017
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
312012
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
292019
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
262020
The system can't perform the operation now. Try again later.
Articles 1–20