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

Genome Instability, Xeroderma Pigmentosum, Mendelian Disorder +7

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

Genetics, Pathology, Molecular Biology +17

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 · 203 citations · Full text

Fanconi Anemia, Genetics, Hematology +5

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 · 189 citations · Full text

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 · 164 citations · Full text