Duncan Baker

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers–Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility

N. Burrows, M. Whiteford, D. Baker, 2019, Genetics in Medicine.

Classical-like Ehlers–Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility

A. Brady, Diana S. Johnson, V. Mcconnell, 2020, Genetics in Medicine.

Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield

Seiko Makino, Diana S. Johnson, C. Green, 2023, European Journal of Human Genetics.

Electron microscopy in the diagnosis of Ehlers–Danlos syndromes: correlation with clinical and genetic investigations

D. Baker, A. Brady, N. Ghali, 2020, The British journal of dermatology.

An exemplary model of genetic counselling for highly specialised services

Diana S. Johnson, N. Ghali, C. Green, 2023, Journal of Community Genetics.