Heather Fawcett

Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy

Wim J. Kleijer, Vincent Laugel, Mark Berneburg et al. · DNA repair · 2008 · 271 citations

Life Sciences, Dermatology, Genetics +14

Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the <i>XPD</i> ( <i>ERCC</i> 2) repair/transcription gene

Elaine M. Taylor, Bernard C. Broughton, Elena Botta et al. · Proceedings of the National Academy of Sciences · 1997 · 259 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Malfunction of Nuclease ERCC1-XPF Results in Diverse Clinical Manifestations and Causes Cockayne Syndrome, Xeroderma Pigmentosum, and Fanconi Anemia

Kazuya Kashiyama, Yuka Nakazawa, Daniela T. Pilz et al. · The American Journal of Human Genetics · 2013 · 205 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect

Hiva Fassihi, Mieran Sethi, Heather Fawcett et al. · Proceedings of the National Academy of Sciences · 2016 · 194 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Molecular analysis of mutations in DNA polymerase η in xeroderma pigmentosum-variant patients

Bernard C. Broughton, Agnès Cordonnier, Wim J. Kleijer et al. · Proceedings of the National Academy of Sciences · 2002 · 165 citations

Life Sciences, Genetics, Molecular Biology +17