Christin S. Adamo

Fibrillin microfibril structure identifies long-range effects of inherited pathogenic mutations affecting a key regulatory latent TGFβ-binding site

A. Roseman, J. Thomson, C. Baldock, 2022, bioRxiv.

EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.

Takako Sasaki, S. Ellard, Stacey L. Cole, 2022, American journal of human genetics.

The fibrillin microfibril/elastic fibre network: A critical extracellular supramolecular scaffold to balance skin homoeostasis

G. Sengle, A. Zuk, Christin S. Adamo, 2020, Experimental dermatology.

Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.

F. Alkuraya, W. Newman, S. Efthymiou, 2021, American journal of human genetics.

Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.

F. Alkuraya, W. Newman, S. Efthymiou, 2021, American journal of human genetics.