K. Iyer

Notch4 reveals a novel mechanism regulating Notch signal transduction.

S. Dunwoodie, G. Chapman, J. Major, 2014, Biochimica et biophysica acta.

Functional genomics and gene-environment interaction highlight the complexity of Congenital Heart Disease caused by Notch pathway variants.

S. Grieve, E. Giannoulatou, S. Dunwoodie, 2019, Human molecular genetics.

Notch1 endocytosis is induced by ligand and is required for signal transduction.

S. Dunwoodie, G. Chapman, J. Major, 2016, Biochimica et biophysica acta.

Bi-Allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.

K. Choy, S. Dunwoodie, V. Siu, 2019, American journal of human genetics.

Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.

D. Humphreys, P. Giampietro, E. Giannoulatou, 2020, Human molecular genetics.

A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder

C. Poulton, S. Lakhani, G. Chapman, 2024, The Journal of clinical investigation.