Stephanie Bielas
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View article: RNF2 Missense Variants Disrupt Polycomb Repression and Enable Ectopic Mesenchymal Lineage Conversion During Human Neural Differentiation
RNF2 Missense Variants Disrupt Polycomb Repression and Enable Ectopic Mesenchymal Lineage Conversion During Human Neural Differentiation Open
View article: CITK modulates BRCA1 recruitment at DNA double strand breaks sites through HDAC6
CITK modulates BRCA1 recruitment at DNA double strand breaks sites through HDAC6 Open
View article: Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population
Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population Open
Several genetic disorders are associated with either a permanent deficit or a delay in central nervous system myelination. We investigated 24 unrelated families (25 individuals) with deficient myelination after clinical and radiological ev…
View article: Modeling primary microcephaly with human brain organoids reveals fundamental roles of CIT kinase activity
Modeling primary microcephaly with human brain organoids reveals fundamental roles of CIT kinase activity Open
Brain size and cellular heterogeneity are tightly regulated by species-specific proliferation and differentiation of multipotent neural progenitor cells (NPCs). Errors in this process are among the mechanisms of primary hereditary microcep…
View article: RING1 missense variants reveal sensitivity of DNA damage repair to H2A monoubiquitination dosage during neurogenesis
RING1 missense variants reveal sensitivity of DNA damage repair to H2A monoubiquitination dosage during neurogenesis Open
Polycomb repressive complex 1 (PRC1) modifies chromatin through catalysis of histone H2A lysine 119 monoubiquitination (H2AK119ub1). RING1 and RNF2 interchangeably serve as the catalytic subunit within PRC1. Pathogenic missense variants in…
View article: Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations Open
CSMD1 ( Cub and Sushi Multiple Domains 1 ) is a well-recognized regulator of the complement cascade, an important component of the innate immune response. CSMD1 is highly expressed in the central nervous system (CNS) where emergent functio…
View article: Author Correction: Quiescence enables unrestricted cell fate in naive embryonic stem cells
Author Correction: Quiescence enables unrestricted cell fate in naive embryonic stem cells Open
View article: Quiescence enables unrestricted cell fate in naive embryonic stem cells
Quiescence enables unrestricted cell fate in naive embryonic stem cells Open
View article: TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome Open
View article: Genetic and phenotypic landscape of pediatric‐onset epilepsy in 142 Indian families: Counseling and therapeutic implications
Genetic and phenotypic landscape of pediatric‐onset epilepsy in 142 Indian families: Counseling and therapeutic implications Open
The application of genomic technologies has led to unraveling of the complex genetic landscape of disorders of epilepsy, gaining insights into their underlying disease mechanisms, aiding precision medicine, and providing informed genetic c…
View article: RING1 missense variants reveal sensitivity of DNA damage repair to H2A monoubiquitination dosage during neurogenesis.
RING1 missense variants reveal sensitivity of DNA damage repair to H2A monoubiquitination dosage during neurogenesis. Open
Polycomb repressive complex 1 (PRC1) modifies chromatin through catalysis of histone 2A lysine 119 monoubiquitination (H2AK119ub1). RING1 and RNF2 interchangeably serve as the catalytic subunit within PRC1. Pathogenic missense variants in …
View article: De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India Open
View article: Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome
Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome Open
View article: Further validation of craniosynostosis as a part of phenotypic spectrum of <scp><i>BCL11B</i></scp>‐related <scp>BAFopathy</scp>
Further validation of craniosynostosis as a part of phenotypic spectrum of <span><i>BCL11B</i></span>‐related <span>BAFopathy</span> Open
Heterozygous disease‐causing variants in BCL11B are the basis of a rare neurodevelopmental syndrome with craniofacial and immunological involvement. Isolated craniosynostosis, without systemic or immunological findings, has been reported i…
View article: De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder
De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder Open
View article: Mechanisms of mRNA processing defects in inherited <i>THOC6</i> intellectual disability syndrome
Mechanisms of mRNA processing defects in inherited <i>THOC6</i> intellectual disability syndrome Open
THOC6 is the genetic basis of autosomal recessive THOC6 Intellectual Disability Syndrome (TIDS). THOC6 facilitates the formation of the Transcription Export complex (TREX) tetramer, composed of four THO monomers. The TREX tetramer supports…
View article: Aberrant extracellular matrix and cardiac development in models lacking the PR-DUB component ASXL3
Aberrant extracellular matrix and cardiac development in models lacking the PR-DUB component ASXL3 Open
Background Clinical and research based genetic testing has uncovered genes that encode chromatin modifying complex components required for organogenesis. Covalent histone modifications play a key role in establishing transcriptional plasti…
View article: Molecular and functional heterogeneity in dorsal and ventral oligodendrocyte progenitor cells of the mouse forebrain in response to DNA damage
Molecular and functional heterogeneity in dorsal and ventral oligodendrocyte progenitor cells of the mouse forebrain in response to DNA damage Open
In the developing mouse forebrain, temporally distinct waves of oligodendrocyte progenitor cells (OPCs) arise from different germinal zones and eventually populate either dorsal or ventral regions, where they present as transcriptionally a…
View article: Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination
Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination Open
do Rosario, Michelle C.; Kaur, Parneet; Girisha, Katta Mohan; Bielas, Stephanie; Shukla, Anju Author Information
View article: Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities
Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities Open
Genetic disorders with predominant central nervous system white matter abnormalities (CNS WMAs), also called leukodystrophies, are heterogeneous entities. We ascertained 117 individuals with CNS WMAs from 104 unrelated families. Targeted g…
View article: Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling
Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling Open
Multilocus disease-causing genomic variations (MGVs) and multiple genetic diagnoses (MGDs) are increasingly being recognised in individuals and families with Mendelian disorders. This can be mainly attributed to the widespread use of genom…
View article: Myofibrillar Structural Variability Underlies Contractile Function in Stem Cell-Derived Cardiomyocytes
Myofibrillar Structural Variability Underlies Contractile Function in Stem Cell-Derived Cardiomyocytes Open
View article: A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians Open
Given the genomic uniqueness, a local data set is most desired for Indians, who are underrepresented in existing public databases. We hypothesize patients with rare monogenic disorders and their family members can provide a reliable source…
View article: Bi‐allelic missense variant, p. <scp>Ser35Leu</scp> in <scp> <i>EXOSC1</i> </scp> is associated with pontocerebellar hypoplasia
Bi‐allelic missense variant, p. <span>Ser35Leu</span> in <span> <i>EXOSC1</i> </span> is associated with pontocerebellar hypoplasia Open
RNA exosome is a highly conserved ribonuclease complex essential for RNA processing and degradation. Bi‐allelic variants in exosome subunits EXOSC3, EXOSC8 and EXOSC9 have been reported to cause pontocerebellar hypoplasia type 1B, type 1C …
View article: Author response for "Bi‐allelic missense variant, p. Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia"
Author response for "Bi‐allelic missense variant, p. Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia" Open
View article: CHD7 promotes neural progenitor differentiation in embryonic stem cells via altered chromatin accessibility and nascent gene expression
CHD7 promotes neural progenitor differentiation in embryonic stem cells via altered chromatin accessibility and nascent gene expression Open
View article: Myofibrillar Structural Variability Underlies Contractile Function in Stem Cell-Derived Cardiomyocytes
Myofibrillar Structural Variability Underlies Contractile Function in Stem Cell-Derived Cardiomyocytes Open
Summary Disease modeling and pharmaceutical testing using cardiomyocytes derived from induced pluripotent stem cell (iPSC-CMs) requires accurate assessment of contractile function. Micropatterning iPSC-CMs on elastic substrates controls ce…
View article: Histone Acetyltransferase MOF Blocks Acquisition of Quiescence in Ground-State ESCs through Activating Fatty Acid Oxidation
Histone Acetyltransferase MOF Blocks Acquisition of Quiescence in Ground-State ESCs through Activating Fatty Acid Oxidation Open
View article: Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature
Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature Open
The clinical phenotype of 1q21.1 microdeletion syndrome is highly heterogeneous. It is characterized by dysmorphic facial features, microcephaly, and developmental delay. Several congenital defects, including cardiac, ocular, skeletal anom…
View article: Modeling Bainbridge-Ropers Syndrome in Xenopus laevis Embryos
Modeling Bainbridge-Ropers Syndrome in Xenopus laevis Embryos Open
The Additional sex combs-like (ASXL1-3) genes are linked to human neurodevelopmental disorders. The de novo truncating variants in ASXL1-3 proteins serve as the genetic basis for severe neurodevelopmental diseases such as Boh…