Elena Botta

A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A

Giuseppina Giglia‐Mari, Frédéric Coin, Jeffrey A. Ranish et al. · Nature Genetics · 2004 · 331 citations · Full text

Genome Instability, Tenth Subunit, Genetic Disorder +8

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

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

Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy

Elena Botta · Human Molecular Genetics · 2002 · 124 citations

Xpd Gene, Genome Instability, Clinical Symptoms +14

Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome.

Bernard C. Broughton, A F Thompson, Susan A. Harcourt et al. · PubMed · 1995 · 115 citations