Chloe X. Santos
London, ENG, United Kingdom
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 14 publications
Nrf2-mediated metabolic reprogramming drives regulatory T cell accumulation in hepatocellular carcinoma.
Journal: Nature communications
Published: May 04, 2025
Spinal neural tube formation and tail development in human embryos.
Journal: eLife
Published: December 05, 2024
AAV-mediated expression of mouse or human GLDC normalises metabolic biomarkers in a GLDC-deficient mouse model of Non-Ketotic Hyperglycinemia.
Journal: Molecular genetics and metabolism
Published: February 14, 2024
A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele.
Journal: Human molecular genetics
Published: April 10, 2023
Regulation of glycine metabolism by the glycine cleavage system and conjugation pathway in mouse models of non-ketotic hyperglycinemia.
Journal: Journal of inherited metabolic disease
Published: May 06, 2020
Aberrant methylation of Pax3 gene and neural tube defects in association with exposure to polycyclic aromatic hydrocarbons.
Journal: Clinical epigenetics
Published: August 21, 2018
Developing potential biomarkers through bedside-to-bench translation.
Journal: Journal of molecular and cellular cardiology
Published: July 21, 2018
Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development.
Journal: Birth defects research
Published: November 01, 2017
New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders.
Journal: Scientific reports
Published: March 22, 2017
Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome.
Journal: Genome research
Published: December 22, 2016
Last Updated: 09/26/2026