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The Journal of Clinical Investigation|June 10, 2014
Hypomorphic PCNA mutation underlies a human DNA repair disorderEmma L Baple, Helen Chambers, Harold E Cross, et al.
American Journal of Human Genetics|April 30, 2013
Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemiaKazuya Kashiyama, Yuka Nakazawa, Daniela T Pilz, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 18, 2016
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defectHiva Fassihi, Mieran Sethi, Heather Fawcett, et al.
Cell Reports|May 28, 2024
Insights from multi-omic modeling of neurodegeneration in xeroderma pigmentosum using an induced pluripotent stem cell systemCherif Badja, Sophie Momen, Gene Ching Chiek Koh, et al.
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