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List of works by Tom R Webb

Association analyses based on false discovery rate implicate new loci for coronary artery disease ⬇️

scientific article published on 17 July 2017

Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness

scientific article published in 2014

Coronary Artery Disease-Associated LIPA Coding Variant rs1051338 Reduces Lysosomal Acid Lipase Levels and Activity in Lysosomes.

scientific article

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

scientific article

Diphthamide modification of eEF2 requires a J-domain protein and is essential for normal development

scientific article

From GWAS to new biology and treatments in CAD

scientific article published on 01 March 2019

Genetic Assessment of Potential Long-Term On-Target Side Effects of PCSK9 (Proprotein Convertase Subtilisin/Kexin Type 9) Inhibitors

scientific article published on 01 January 2019

Genomic Risk Prediction of Coronary Artery Disease in 480,000 Adults: Implications for Primary Prevention

scientific article published on 01 October 2018

HHIPL1, a Gene at the 14q32 Coronary Artery Disease Locus, Positively Regulates Hedgehog Signaling and Promotes Atherosclerosis

scientific article published on 05 June 2019

Influence of a Coronary Artery Disease-Associated Genetic Variant on FURIN Expression and Effect of Furin on Macrophage Behavior.

scientific article published in August 2018

JCAD Gene at the 10p11 Coronary Artery Disease Locus Regulates Hippo Signaling in Endothelial Cells.

scientific article

Long noncoding RNA NEXN-AS1 mitigates atherosclerosis by regulating the actin-binding protein NEXN

scientific article published on 04 February 2019

Minireview: the melanocortin 2 receptor accessory proteins.

scientific article published on 23 October 2009

Novel loss of function mutation in NOTCH1 in a family with bicuspid aortic valve, ventricular septal defect, thoracic aortic aneurysm, and aortic valve stenosis

scientific article published on 27 July 2020

The Atherosclerosis Risk Variant rs2107595 Mediates Allele-Specific Transcriptional Regulation of HDAC9 via E2F3 and Rb1

scientific article published on 10 September 2019

The Coronary Artery Disease-associated Coding Variant in Zinc Finger C3HC-type Containing 1 (ZC3HC1) Affects Cell Cycle Regulation

scientific article

X-linked cone dystrophy caused by mutation of the red and green cone opsins

scientific article

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