List of works - Allison M Cotton

A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder

scientific article published in August 2017

Additional annotation enhances potential for biologically-relevant analysis of the Illumina Infinium HumanMethylation450 BeadChip array

scientific article published on 03 March 2013

Analysis of expressed SNPs identifies variable extents of expression from the human inactive X chromosome

scientific article

Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders

scientific article

Bone health and SATB2-associated syndrome.

scientific article published on 8 August 2017

Chromosome-wide DNA methylation analysis predicts human tissue-specific X inactivation

scientific article

DNA methylation is globally disrupted and associated with expression changes in chronic obstructive pulmonary disease small airways

scientific article

Derivation of consensus inactivation status for X-linked genes from genome-wide studies

scientific article

Different measures of "genome-wide" DNA methylation exhibit unique properties in placental and somatic tissues

scientific article

Inactive X chromosome-specific reduction in placental DNA methylation

scientific article published on 07 July 2009

Landscape of DNA methylation on the X chromosome reflects CpG density, functional chromatin state and X-chromosome inactivation

scientific article

Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction.

scientific article published on 6 February 2017

Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation

scientific article published on January 2017

Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?

scientific article published on 17 November 2015

Spread of X-chromosome inactivation into autosomal sequences: role for DNA elements, chromatin features and chromosomal domains

scientific article

Targeting of >1.5 Mb of human DNA into the mouse X chromosome reveals presence of cis-acting regulators of epigenetic silencing

scientific article

Variable escape from X-chromosome inactivation: identifying factors that tip the scales towards expression

scientific article

X chromosome inactivation: heterogeneity of heterochromatin

scientific article published on October 2008

X-Chromosome Inactivation

article from 2013

X-chromosome inactivation: molecular mechanisms from the human perspective

scientific article published on 07 May 2011

XIST-induced silencing of flanking genes is achieved by additive action of repeat a monomers in human somatic cells

scientific article published on August 2013

YY1 binding association with sex-biased transcription revealed through X-linked transcript levels and allelic binding analyses

scientific article

List of works by Allison M Cotton

A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder

Additional annotation enhances potential for biologically-relevant analysis of the Illumina Infinium HumanMethylation450 BeadChip array

Analysis of expressed SNPs identifies variable extents of expression from the human inactive X chromosome

Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders

Bone health and SATB2-associated syndrome.

Chromosome-wide DNA methylation analysis predicts human tissue-specific X inactivation

DNA methylation is globally disrupted and associated with expression changes in chronic obstructive pulmonary disease small airways

Derivation of consensus inactivation status for X-linked genes from genome-wide studies

Different measures of "genome-wide" DNA methylation exhibit unique properties in placental and somatic tissues

Inactive X chromosome-specific reduction in placental DNA methylation

Landscape of DNA methylation on the X chromosome reflects CpG density, functional chromatin state and X-chromosome inactivation

Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction.

Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation

Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?

Spread of X-chromosome inactivation into autosomal sequences: role for DNA elements, chromatin features and chromosomal domains

Targeting of >1.5 Mb of human DNA into the mouse X chromosome reveals presence of cis-acting regulators of epigenetic silencing

Variable escape from X-chromosome inactivation: identifying factors that tip the scales towards expression

X chromosome inactivation: heterogeneity of heterochromatin

X-Chromosome Inactivation

X-chromosome inactivation: molecular mechanisms from the human perspective

XIST-induced silencing of flanking genes is achieved by additive action of repeat a monomers in human somatic cells

YY1 binding association with sex-biased transcription revealed through X-linked transcript levels and allelic binding analyses