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Clinical Genetics|March 29, 2019
Heterogeneity and overlaps in nucleotide excision repair disordersDebora Ferri, Donata Orioli, Elena Botta
Mutation Research. Reviews in Mutation Research|July 30, 2025
Trichothiodystrophy: Molecular insights and mechanisms of pathogenicityManuela Lanzafame, Francesca Brevi, Gaia Veniali, et al.
Clinical Genetics|January 3, 2026
Unusual Disease-Progression in Two Siblings With Xeroderma Pigmentosum Group GElena Botta, Heather Fawcett, Donata Orioli, et al.
Mechanisms of Ageing and Development|April 10, 2013
From laboratory tests to functional characterisation of Cockayne syndromeManuela Lanzafame, Bruno Vaz, Tiziana Nardo, et al.
Experimental Dermatology|February 6, 2015
Reference genes for gene expression analysis in proliferating and differentiating human keratinocytesManuela Lanzafame, Elena Botta, Massimo Teson, et al.
Human Molecular Genetics|October 24, 2002
Reduced level of the repair/transcription factor TFIIH in trichothiodystrophyElena Botta, Tiziana Nardo, Alan R Lehmann, et al.
Human Mutation|December 17, 2008
Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD geneElena Botta, Tiziana Nardo, Donata Orioli, et al.
Human Molecular Genetics|June 19, 2003
True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 productVesna Rapić-Otrin, Valentina Navazza, Tiziana Nardo, et al.
Human Molecular Genetics|December 11, 2012
XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepressionDonata Orioli, Emmanuel Compe, Tiziana Nardo, et al.
Human Mutation|October 19, 2022
TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophyManuela Lanzafame, Tiziana Nardo, Roberta Ricotti, et al.
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