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Chloe Santos

University College London

8

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116

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Regulation of glycine metabolism by the glycine cleavage system and conjugation pathway in mouse models of Non-Ketotic Hyperglycinemia.

2020 Journal of Inherited Metabolic Disease
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Impaired folate one-carbon metabolism causes formate-preventable hydrocephalus in glycine decarboxylase-deficient mice

2019 Journal of Clinical Investigation
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Aberrant methylation of Pax3 gene and neural tube defects in association with exposure to polycyclic aromatic hydrocarbons

2019 Clinical Epigenetics
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New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1 -related developmental eye disorders

2017 Scientific Reports
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Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development

2017 bioRxiv
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Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome

2017 Genome Research
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Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders

2017 Human Genetics
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Citations (8)