Browse by UCL people
Group by: Type | Date
Number of items: 10.
Article
Evrony, GD;
Cordero, DR;
Shen, J;
Partlow, JN;
Yu, TW;
Rodin, RE;
Hill, RS;
... Walsh, CA; + view all
(2017)
Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome.
Genome Research
, 27
(10)
pp. 1323-1335.
10.1101/gr.219899.116.
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Harkin, Lauren F;
Gerrelli, Dianne;
Diaz, Diana C Gold;
Santos, Chloe;
Alzu'bi, Ayman;
Austin, Caroline A;
Clowry, Gavin J;
(2016)
Distinct expression patterns for type II topoisomerases
IIA and IIB in the early foetal human telencephalon.
Journal of Anatomy
, 228
(3)
pp. 452-463.
10.1111/joa.12416.
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Holt, R;
Ceroni, F;
Bax, DA;
Broadgate, S;
Diaz, DG;
Santos, C;
Gerrelli, D;
(2017)
New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders.
Scientific Reports
, 7
, Article 7975. 10.1038/s41598-017-08397-w.
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Holt, R;
Iseri, SAU;
Wyatt, AW;
Bax, DA;
Diaz, DG;
Santos, C;
Broadgate, S;
... Ragge, N; + view all
(2017)
Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders.
Human Genetics
, 136
(1)
pp. 119-127.
10.1007/s00439-016-1745-8.
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Leung, K-Y;
De Castro, SCP;
Santos, C;
Savery, D;
Prunty, H;
Gold-Diaz, D;
Bennett, S;
... Greene, NDE; + view all
(2020)
Regulation of glycine metabolism by the glycine cleavage system and conjugation pathway in mouse models of Non-Ketotic Hyperglycinemia.
Journal of Inherited Metabolic Disease
, 43
(6)
pp. 1186-1198.
10.1002/jimd.12295.
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Leung, K-Y;
Pai, YJ;
Chen, Q;
Santos, C;
Calvani, E;
Sudiwala, S;
Savery, D;
... Greene, NDE; + view all
(2017)
Partitioning of One-Carbon Units in Folate and Methionine Metabolism Is Essential for Neural Tube Closure.
Cell Rep
, 21
(7)
pp. 1795-1808.
10.1016/j.celrep.2017.10.072.
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Lin, S;
Ren, A;
Wang, L;
Santos, C;
Huang, Y;
Jin, L;
Li, Z;
(2019)
Aberrant methylation of Pax3 gene and neural tube defects in association with exposure to polycyclic aromatic hydrocarbons.
Clinical Epigenetics
, 11
(1)
, Article 13. 10.1186/s13148-019-0611-7.
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Santos, C;
Pai, YJ;
Mahmood, MR;
Leung, K-Y;
Savery, D;
Waddington, SN;
Copp, AJ;
(2020)
Impaired folate one-carbon metabolism causes formate-preventable hydrocephalus in glycine decarboxylase-deficient mice.
Journal of Clinical Investigation
, 130
(3)
pp. 1446-1452.
10.1172/jci132360.
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Thomas, AC;
Heux, P;
Santos, C;
Arulvasan, W;
Solanky, N;
Carey, ME;
Gerrelli, D;
... Etchevers, HC; + view all
(2018)
Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development.
Birth Defects Research
, 110
(5)
pp. 443-455.
10.1002/bdr2.1183.
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Thesis
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Santos, Chloe;
(2022)
Investigating the Cause of Central Nervous System Defects in Glycine Decarboxylase-Deficient Mice.
Doctoral thesis (Ph.D), UCL (University College London).
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