Publications by authors named "Tahsin Stefan Barakat"

30Publications

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

Nat Commun 2020 01 30;11(1):595. Epub 2020 Jan 30.

Institute of Medical Biology, A*STAR, Biopolis, Singapore, 138648, Singapore.

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http://dx.doi.org/10.1038/s41467-020-14360-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6992768PMC
January 2020

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.

Acta Neuropathol 2020 03 9;139(3):415-442. Epub 2019 Dec 9.

Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00401-019-02109-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7035241PMC
March 2020

Beyond the Exome: The Non-coding Genome and Enhancers in Neurodevelopmental Disorders and Malformations of Cortical Development.

Front Cell Neurosci 2019 31;13:352. Epub 2019 Jul 31.

Department of Clinical Genetics, Erasmus MC - University Medical Center, Rotterdam, Netherlands.

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http://dx.doi.org/10.3389/fncel.2019.00352DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6685065PMC
July 2019

The evolution of Great Apes has shaped the functional enhancers' landscape in human embryonic stem cells.

Stem Cell Res 2019 05 3;37:101456. Epub 2019 May 3.

Department of Clinical Genetics, Erasmus MC, University Medical Center, Wytemaweg 80, 3015 CN Rotterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.scr.2019.101456DOI Listing
May 2019

REX1 is the critical target of RNF12 in imprinted X chromosome inactivation in mice.

Nat Commun 2018 11 12;9(1):4752. Epub 2018 Nov 12.

Department of Developmental Biology, Oncode Institute, Erasmus MC, PO Box 2040, 3000, CA, Rotterdam, The Netherlands.

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http://www.nature.com/articles/s41467-018-07060-w
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http://dx.doi.org/10.1038/s41467-018-07060-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6232137PMC
November 2018

Functional Dissection of the Enhancer Repertoire in Human Embryonic Stem Cells.

Cell Stem Cell 2018 Aug 19;23(2):276-288.e8. Epub 2018 Jul 19.

MRC Centre for Regenerative Medicine, Institute for Stem Cell Research, School of Biological Sciences, University of Edinburgh, Edinburgh, EH16 4UU, UK. Electronic address:

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http://dx.doi.org/10.1016/j.stem.2018.06.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6084406PMC
August 2018

Dynamics of gene silencing during X inactivation using allele-specific RNA-seq.

Genome Biol 2015 Aug 3;16:149. Epub 2015 Aug 3.

Radboud University, Faculty of Science, Department of Molecular Biology, Radboud Institute for Molecular Life Sciences (RIMLS), 6500HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1186/s13059-015-0698-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4546214PMC
August 2015

Stable X chromosome reactivation in female human induced pluripotent stem cells.

Stem Cell Reports 2015 Feb 29;4(2):199-208. Epub 2015 Jan 29.

Department of Developmental Biology, Erasmus MC, University Medical Center, 3015 CE Rotterdam, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.stemcr.2014.12.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4325229PMC
February 2015

Generation of knockout alleles by RFLP based BAC targeting of polymorphic embryonic stem cells.

Methods Mol Biol 2015 ;1227:143-80

Department of Reproduction and Development, Erasmus MC, University Medical Center, Room Ee 09-71, PO Box 2040, 3000 CA, Rotterdam, The Netherlands,

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http://dx.doi.org/10.1007/978-1-4939-1652-8_7DOI Listing
May 2015

Combined DNA-RNA fluorescent in situ hybridization (FISH) to study X chromosome inactivation in differentiated female mouse embryonic stem cells.

J Vis Exp 2014 Jun 14(88). Epub 2014 Jun 14.

Department of Reproduction and Development, Erasmus MC - University Medical Center.

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http://dx.doi.org/10.3791/51628DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4189555PMC
June 2014

The trans-activator RNF12 and cis-acting elements effectuate X chromosome inactivation independent of X-pairing.

Mol Cell 2014 Mar 6;53(6):965-78. Epub 2014 Mar 6.

Department of Reproduction and Development, Erasmus MC, University Medical Center, Rotterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.molcel.2014.02.006DOI Listing
March 2014

The pluripotency factor-bound intron 1 of Xist is dispensable for X chromosome inactivation and reactivation in vitro and in vivo.

Cell Rep 2013 Mar 21;3(3):905-18. Epub 2013 Mar 21.

Department of Biological Chemistry, David Geffen School of Medicine, Jonsson Comprehensive Cancer Center, Molecular Biology Institute, University of California, Los Angeles, Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1016/j.celrep.2013.02.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3615097PMC
March 2013

X chromosome inactivation in the cycle of life.

Development 2012 Jun;139(12):2085-9

Department of Reproduction and Development, Erasmus MC, University Medical Center, 3015GE Rotterdam, The Netherlands.

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http://dx.doi.org/10.1242/dev.069328DOI Listing
June 2012

RNF12 initiates X-chromosome inactivation by targeting REX1 for degradation.

Nature 2012 Apr 29;485(7398):386-90. Epub 2012 Apr 29.

Department of Reproduction and Development, Erasmus MC, University Medical Center, Dr Molewaterplein 50, 3015 GE Rotterdam, The Netherlands.

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http://www.nature.com/doifinder/10.1038/nature11070
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http://dx.doi.org/10.1038/nature11070DOI Listing
April 2012

Precise BAC targeting of genetically polymorphic mouse ES cells.

Nucleic Acids Res 2011 Oct 7;39(18):e121. Epub 2011 Jul 7.

Department of Reproduction and Development, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1093/nar/gkr550DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3185440PMC
October 2011

RNF12 activates Xist and is essential for X chromosome inactivation.

PLoS Genet 2011 Jan 27;7(1):e1002001. Epub 2011 Jan 27.

Department of Reproduction and Development, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1371/journal.pgen.1002001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3029249PMC
January 2011

X chromosome inactivation and embryonic stem cells.

Adv Exp Med Biol 2010 ;695:132-54

Department of Reproduction and Development, University Medical Center, Room Ee 09-71, Erasmus MC, 3015 GE, Rotterdam, Netherlands.

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http://dx.doi.org/10.1007/978-1-4419-7037-4_10DOI Listing
April 2016

X-changing information on X inactivation.

Exp Cell Res 2010 Mar 18;316(5):679-87. Epub 2010 Jan 18.

Department of Reproduction and Development, Room Ee 09-71, Erasmus MC, PO Box 2040, 3000 CA Rotterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.yexcr.2010.01.015DOI Listing
March 2010

RNF12 is an X-Encoded dose-dependent activator of X chromosome inactivation.

Cell 2009 Nov;139(5):999-1011

Department of Reproduction and Development, Erasmus MC, University Medical Center, 3000 CA Rotterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.cell.2009.10.034DOI Listing
November 2009