Dollfus, Hélène J.

Top Publications

Top Publications Authored or Co-Authored by "Dollfus, Hélène J."

• Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

  Cell, Volume 150, No. 3, Year 2012, Citations 357
• TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

  Nature Genetics, Volume 43, No. 3, Year 2011, Citations 348
• BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

  Nature Genetics, Volume 38, No. 5, Year 2006, Citations 300
• ADAMTS10 mutations in autosomal recessive weill-marchesani syndrome

  American Journal of Human Genetics, Volume 75, No. 5, Year 2004, Citations 262
• CEP152 is a genome maintenance protein disrupted in Seckel syndrome

  Nature Genetics, Volume 43, No. 1, Year 2011, Citations 233