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List of works by Cindy Skinner

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

scientific article published on 17 February 2008

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

scientific article published on July 2015

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

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

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

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