R. Sarkany

Whole-genome sequencing of patients with rare diseases in a national health system

Keith W. Muir, William J. Astle, Mark I. McCarthy, 2020, Nature.

Ultraviolet A1 phototherapy: a British Photodermatology Group workshop report

P. Beattie, S. Ibbotson, R. Sarkany, 2012, Clinical and experimental dermatology.

British Association of Dermatologists and British Photodermatology Group guidelines for the safe and effective use of psoralen–ultraviolet A therapy 2015

M. Mustapa, L. Exton, R. Dawe, 2016, The British journal of dermatology.

The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report

Julius O. B. Jacobsen, Robert W. Taylor, Eleanor F. Dewhurst, 2021, The New England journal of medicine.

Retrospective study of efficacy and adverse events of immune checkpoint inhibitors in 22 xeroderma pigmentosum patients with metastatic or unresectable cancers

Sikandar G. Khan, H. Fassihi, D. Tamura, 2023, Frontiers in oncology.

A rare genetic disorder provides insights into mechanisms of early-onset neurodegeneration

C. Bakal, S. Nik-Zainal, A. Degasperi, 2023, medRxiv.