Stefan Barakat
Stefan Barakat
Assistant professor, Head of the Non-Coding Genome Research Group, Clinical Genetics, Erasmus MC
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A murine ESC-like state facilitates transgenesis and homologous recombination in human pluripotent stem cells
C Buecker, HH Chen, JM Polo, L Daheron, L Bu, TS Barakat, P Okwieka, ...
Cell stem cell 6 (6), 535-546, 2010
RNF12 is an X-Encoded dose-dependent activator of X chromosome inactivation
I Jonkers, TS Barakat, EM Achame, K Monkhorst, A Kenter, ...
Cell 139 (5), 999-1011, 2009
RNF12 initiates X-chromosome inactivation by targeting REX1 for degradation
C Gontan, EM Achame, J Demmers, TS Barakat, E Rentmeester, ...
Nature 485 (7398), 386-390, 2012
RNF12 Activates Xist and Is Essential for X Chromosome Inactivation
TS Barakat, N Gunhanlar, C Gontan Pardo, EM Achame, M Ghazvini, ...
PLoS genetics 7 (1), e1002001, 2011
Dynamics of gene silencing during X inactivation using allele-specific RNA-seq
H Marks, HHD Kerstens, TS Barakat, E Splinter, RAM Dirks, G van Mierlo, ...
Genome biology 16 (1), 1-20, 2015
Functional dissection of the enhancer repertoire in human embryonic stem cells
TS Barakat, F Halbritter, M Zhang, AF Rendeiro, E Perenthaler, C Bock, ...
Cell stem cell 23 (2), 276-288. e8, 2018
RNF12 controls embryonic stem cell fate and morphogenesis in zebrafish embryos by targeting Smad7 for degradation
L Zhang, H Huang, FF Zhou, J Schimmel, CG Pardo, T Zhang, TS Barakat, ...
Molecular cell 46 (5), 650-661, 2012
The Trans-Activator RNF12 and Cis-Acting Elements Effectuate X Chromosome Inactivation Independent of X-Pairing
TS Barakat, F Loos, S van Staveren, E Myronova, M Ghazvini, ...
Molecular cell 53 (6), 965-978, 2014
X-changing information on X inactivation
TS Barakat, I Jonkers, K Monkhorst, J Gribnau
Experimental cell research 316 (5), 679-687, 2010
Stable X chromosome reactivation in female human induced pluripotent stem cells
TS Barakat, M Ghazvini, B de Hoon, T Li, B Eussen, H Douben, ...
Stem cell reports 4 (2), 199-208, 2015
X chromosome inactivation in the cycle of life
TS Barakat, J Gribnau
Development 139 (12), 2085-2089, 2012
The pluripotency factor-bound intron 1 of Xist is dispensable for X chromosome inactivation and reactivation in vitro and in vivo
A Minkovsky, TS Barakat, N Sellami, MH Chin, N Gunhanlar, J Gribnau, ...
Cell reports 3 (3), 905-918, 2013
Beyond the exome: the non-coding genome and enhancers in neurodevelopmental disorders and malformations of cortical development
E Perenthaler, S Yousefi, E Niggl, TS Barakat
Frontiers in cellular neuroscience 13, 352, 2019
Exome sequencing of a primary ovarian insufficiency cohort reveals common molecular etiologies for a spectrum of disease
A Jolly, Y Bayram, S Turan, Z Aycan, T Tos, ZY Abali, B Hacihamdioglu, ...
The Journal of Clinical Endocrinology & Metabolism 104 (8), 3049-3067, 2019
REX1 is the critical target of RNF12 in imprinted X chromosome inactivation in mice
C Gontan, H Mira-Bontenbal, A Magaraki, C Dupont, TS Barakat, ...
Nature communications 9 (1), 1-12, 2018
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases
E Perenthaler, A Nikoncuk, S Yousefi, WM Berdowski, M Alsagob, I Capo, ...
Acta neuropathologica 139 (3), 415-442, 2020
X chromosome inactivation and embryonic stem cells
TS Barakat, J Gribnau
The Cell Biology of Stem Cells, 132-154, 2010
Structural and numerical changes of chromosome X in patients with esophageal atresia
E Brosens, EM De Jong, TS Barakat, BH Eussen, B D'haene, E De Baere, ...
European Journal of Human Genetics 22 (9), 1077-1084, 2014
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), 1-16, 2020
International consensus recommendations on the diagnostic work-up for malformations of cortical development
R Oegema, TS Barakat, M Wilke, K Stouffs, D Amrom, E Aronica, ...
Nature Reviews Neurology 16 (11), 618-635, 2020
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