List of works - Tahsin Stefan Barakat

<i>USP27X</i>variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms

scientific article published in 2024

A murine ESC-like state facilitates transgenesis and homologous recombination in human pluripotent stem cells.

scientific article

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

scientific article published on 01 June 2020

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

scientific article published on 31 July 2019

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

publication published on 01 April 2021

Building Bridges Between the Clinic and the Laboratory: A Meeting Review - Brain Malformations: A Roadmap for Future Research

scientific article published on 27 September 2019

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

scientific article

Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance

scientific article published on 19 October 2021

Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder

scientific article published in 2024

De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy

scientific article published on 28 November 2019

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

scientific article published on 03 August 2021

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

scientific article published on 01 March 2022

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

scientific article

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

scientific article published on 5 February 2016

Exome sequencing of a primary ovarian insufficiency cohort reveals common molecular etiologies for a spectrum of disease

scientific article published on 01 August 2019

Expanding the mutational landscape and clinical phenotype of the <i>YIF1B</i> related brain disorder

scientific article published on 07 August 2021

Functional Dissection of the Enhancer Repertoire in Human Embryonic Stem Cells

scientific article published on 19 July 2018

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

scientific article

International consensus recommendations on the diagnostic work-up for malformations of cortical development

scientific article published on 07 September 2020

Lessons learned from 40 novel PIGA patients and a review of the literature

scientific article published on 26 May 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

scientific article published on 09 December 2019

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

scientific article published on 30 January 2020

Precise BAC targeting of genetically polymorphic mouse ES cells

scientific article

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

scientific article published in Nature Communications

RNF12 activates Xist and is essential for X chromosome inactivation

scientific article

RNF12 controls embryonic stem cell fate and morphogenesis in zebrafish embryos by targeting Smad7 for degradation ⬇️

scientific article published on May 3, 2012

RNF12 initiates X-chromosome inactivation by targeting REX1 for degradation

scientific article published on 29 April 2012

Stable X chromosome reactivation in female human induced pluripotent stem cells

scientific article

Structural and numerical changes of chromosome X in patients with esophageal atresia

scientific article

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

scientific article published on 03 May 2019

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

scientific article published on 21 March 2013

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

scientific journal article

Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy

scientific article published on 31 January 2020

X chromosome inactivation and embryonic stem cells.

scientific article published in January 2010

X chromosome inactivation in the cycle of life.

scientific article

List of works by Tahsin Stefan Barakat

<i>USP27X</i>variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms

A murine ESC-like state facilitates transgenesis and homologous recombination in human pluripotent stem cells.

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

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

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

Building Bridges Between the Clinic and the Laboratory: A Meeting Review - Brain Malformations: A Roadmap for Future Research

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

Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance

Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder

De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

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

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

Exome sequencing of a primary ovarian insufficiency cohort reveals common molecular etiologies for a spectrum of disease

Expanding the mutational landscape and clinical phenotype of the <i>YIF1B</i> related brain disorder

Functional Dissection of the Enhancer Repertoire in Human Embryonic Stem Cells

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

International consensus recommendations on the diagnostic work-up for malformations of cortical development

Lessons learned from 40 novel PIGA patients and a review of the literature

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

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

Precise BAC targeting of genetically polymorphic mouse ES cells

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

RNF12 activates Xist and is essential for X chromosome inactivation

RNF12 controls embryonic stem cell fate and morphogenesis in zebrafish embryos by targeting Smad7 for degradation ⬇️

RNF12 initiates X-chromosome inactivation by targeting REX1 for degradation

Stable X chromosome reactivation in female human induced pluripotent stem cells

Structural and numerical changes of chromosome X in patients with esophageal atresia

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

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

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

Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy

X chromosome inactivation and embryonic stem cells.

X chromosome inactivation in the cycle of life.