List of works - Charles E. Schwartz

-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling

scientific article published in Journal of Biological Chemistry

A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.

scientific article

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

scientific article published on 17 February 2008

An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase

scientific article published on 20 February 2020

Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis

scientific article published on July 2015

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation

scientific article

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

scientific article published on 15 October 2019

Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders

article

Early detection of fragile X syndrome: applications of a novel approach for improved quantitative methylation analysis in venous blood and newborn blood spots

scientific article published on 28 April 2014

Expanding allelic and phenotypic spectrum of ZC4H2‐related disorder: A novel hypomorphic variant and high prevalence of tethered cord

scientific article published in 2022

Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study

scientific article

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

scientific article published on 23 July 2020

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

scientific article

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

scientific article published on 7 September 2018

Recurrent duplications of 17q12 associated with variable phenotypes.

scientific article published on 30 September 2015

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

scientific article

Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and pubert

scientific article

Spermine synthase and MYC cooperate to maintain colorectal cancer cell survival by repressing Bim expression

scientific article published on 26 June 2020

eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation

scientific article

List of works by Charles E. Schwartz

-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling

A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase

Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders

Early detection of fragile X syndrome: applications of a novel approach for improved quantitative methylation analysis in venous blood and newborn blood spots

Expanding allelic and phenotypic spectrum of ZC4H2‐related disorder: A novel hypomorphic variant and high prevalence of tethered cord

Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Recurrent duplications of 17q12 associated with variable phenotypes.

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and pubert

Spermine synthase and MYC cooperate to maintain colorectal cancer cell survival by repressing Bim expression

eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation