Corinne Stoetzel
Inserm(FR)Université de Strasbourg(FR)
Publications by Year
Research Areas
Genetic and Kidney Cyst Diseases, Genetic Syndromes and Imprinting, Hedgehog Signaling Pathway Studies, Renal and related cancers, Bone and Dental Protein Studies
Most-Cited Works
- → AnnotSV: an integrated tool for structural variations annotation(2018)492 cited
- → Sequence of the twist gene and nuclear localization of its protein in endomesodermal cells of early Drosophila embryos.(1988)475 cited
- → Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome(2008)395 cited
- → Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling(2012)391 cited
- → TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum(2011)376 cited
- → Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy(2010)318 cited
- → BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus