Jean-Marc Danse

Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome

Corinne Stoetzel, Jean Muller, Virginie Laurier et al. · The American Journal of Human Genetics · 2006 · 235 citations · Full text

Protein Function, Genetic Disorder, Natural Sciences +9

Delineation of the Functional Site of α-Dendrotoxin

Sylvaine Gasparini, Jean-Marc Danse, Alain Lecoq et al. · Journal of Biological Chemistry · 1998 · 84 citations · Full text

Pitfalls of homozygosity mapping: an extended consanguineous Bardet–Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism

Virginie Laurier, Corinne Stoetzel, Jean Muller et al. · European Journal of Human Genetics · 2006 · 62 citations · Full text

Homozygosity Mapping, Extended Consanguineous Bardet–biedl, Mendelian Disorder +13

Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes

Élise Schaefer, M. Durand, Corinne Stoetzel et al. · European Journal of Medical Genetics · 2010 · 44 citations

Biology, Genetic Analysis, Allelic Variant +13

Confirmation of <i>TFAP2A</i> gene involvement in branchio‐oculo‐facial syndrome (BOFS) and report of temporal bone anomalies

Corinne Stoetzel, S. Riehm, V. Bennouna Greene et al. · American Journal of Medical Genetics Part A · 2009 · 33 citations

Genetics, Branchio‐oculo‐facial Syndrome, Pathology +17