Tiziana Nardò

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

Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair

Yuka Nakazawa, Kensaku Sasaki, Norisato Mitsutake et al. · Nature Genetics · 2012 · 212 citations · Full text

Life Sciences, Genetics, Molecular Biology +15

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

A UV-sensitive syndrome patient with a specific <i>CSA</i> mutation reveals separable roles for CSA in response to UV and oxidative DNA damage

Tiziana Nardò, Roberta Oneda, Graciela Spivak et al. · Proceedings of the National Academy of Sciences · 2009 · 136 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17