Induced-pluripotent-stem-cell-derived primitive macrophages provide a platform for modeling tissue-resident macrophage differentiation and function K Takata, T Kozaki, CZW Lee, MS Thion, M Otsuka, S Lim, KH Utami, ... Immunity 47 (1), 183-198. e6, 2017 | 306 | 2017 |
Reversal of phenotypic abnormalities by CRISPR/Cas9-mediated gene correction in Huntington disease patient-derived induced pluripotent stem cells X Xu, Y Tay, B Sim, SI Yoon, Y Huang, J Ooi, KH Utami, A Ziaei, B Ng, ... Stem cell reports 8 (3), 619-633, 2017 | 201 | 2017 |
Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation K Osoegawa, GM Vessere, KH Utami, MA Mansilla, MK Johnson, ... Journal of medical genetics 45 (2), 81-86, 2008 | 120 | 2008 |
Unbiased profiling of isogenic Huntington disease hPSC-derived CNS and peripheral cells reveals strong cell-type specificity of CAG length effects J Ooi, SR Langley, X Xu, KH Utami, B Sim, Y Huang, NP Harmston, ... Cell Reports 26 (9), 2494-2508. e7, 2019 | 70 | 2019 |
Impaired Development of Neural‐Crest Cell‐Derived Organs and Intellectual Disability Caused by MED13L Haploinsufficiency KH Utami, CL Winata, AM Hillmer, I Aksoy, HT Long, H Liany, EGY Chew, ... Human mutation 35 (11), 1311-1320, 2014 | 65 | 2014 |
Detection of chromosomal breakpoints in patients with developmental delay and speech disorders KH Utami, AM Hillmer, I Aksoy, EGY Chew, ASM Teo, Z Zhang, CWH Lee, ... PloS one 9 (3), e90852, 2014 | 61 | 2014 |
A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability PH Chia, FL Zhong, S Niwa, C Bonnard, KH Utami, R Zeng, H Lee, ... Elife 7, e32451, 2018 | 57 | 2018 |
The nucleolar GTP-binding proteins Gnl2 and nucleostemin are required for retinal neurogenesis in developing zebrafish JTML Paridaen, E Janson, KH Utami, TC Pereboom, PB Essers, ... Developmental biology 355 (2), 286-301, 2011 | 44 | 2011 |
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy H Hengel, C Bosso-Lefèvre, G Grady, E Szenker-Ravi, H Li, S Pierce, ... Nature communications 11 (1), 595, 2020 | 40 | 2020 |
Integrative analysis identifies key molecular signatures underlying neurodevelopmental deficits in fragile X syndrome KH Utami, NH Skotte, AR Colaço, NABM Yusof, B Sim, XY Yeo, HG Bae, ... Biological Psychiatry 88 (6), 500-511, 2020 | 37 | 2020 |
Elevated de novo protein synthesis in FMRP-deficient human neurons and its correction by metformin treatment KH Utami, NABM Yusof, JE Kwa, UK Peteri, ML Castrén, MA Pouladi Molecular autism 11, 1-11, 2020 | 30 | 2020 |
Combined deletion of two Condensin II system genes (NCAPG2 and MCPH1) in a case of severe microcephaly and mental deficiency O Perche, A Menuet, M Marcos, L Liu, A Pâris, KH Utami, D Kervran, ... European journal of medical genetics 56 (11), 635-641, 2013 | 27 | 2013 |
Personalized genome sequencing coupled with iPSC technology identifies GTDC1 as a gene involved in neurodevelopmental disorders I Aksoy, KH Utami, CL Winata, AM Hillmer, SL Rouam, S Briault, S Davila, ... Human Molecular Genetics 26 (2), 367-382, 2017 | 16 | 2017 |
A micropatterned human‐specific neuroepithelial tissue for modeling gene and drug‐induced neurodevelopmental defects G Sahni, SY Chang, JTC Meng, JZY Tan, JJC Fatien, C Bonnard, ... Advanced Science 8 (5), 2001100, 2021 | 13 | 2021 |
Expanded huntingtin CAG repeats disrupt the balance between neural progenitor expansion and differentiation in human cerebral organoids J Zhang, J Ooi, KH Utami, SR Langley, OA Aning, DS Park, M Renner, ... bioRxiv, 850586, 2019 | 12 | 2019 |
Urokinase plasminogen activator mediates changes in human astrocytes modeling fragile X syndrome UK Peteri, J Pitkonen, I de Toma, O Nieminen, KH Utami, TM Strandin, ... Glia 69 (12), 2947-2962, 2021 | 11 | 2021 |
Generation of the human pluripotent stem-cell-derived astrocyte model with forebrain identity UK Peteri, J Pitkonen, KH Utami, J Paavola, L Roybon, MA Pouladi, ... Brain sciences 11 (2), 209, 2021 | 11 | 2021 |
iPS-cell-derived microglia promote brain organoid maturation via cholesterol transfer DS Park, T Kozaki, SK Tiwari, M Moreira, A Khalilnezhad, F Torta, N Olivié, ... Nature 623 (7986), 397-405, 2023 | 10 | 2023 |
Obtaining multi-electrode array recordings from human induced pluripotent stem cell–derived neurons X Xu, CI Radulescu, KH Utami, MA Pouladi Bio-protocol 7 (22), e2609-e2609, 2017 | 7 | 2017 |
Induced-pluripotent-stem-cell-derived primitive macrophages provide a platform for modeling tissue-resident macrophage differentiation and function K Takata, T Kozaki, CZW Lee, MS Thion, M Otsuka, S Lim, KH Utami, ... Immunity 52 (2), 417-418, 2020 | 5 | 2020 |