PubRank

Corinne Stoetzel

Author PubWeight™ 32.55‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat Genet 2008 4.68
2 Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet 2010 3.99
3 TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet 2011 3.06
4 Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell 2012 2.54
5 Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes. J Med Genet 2012 1.79
6 Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation. Proc Natl Acad Sci U S A 2009 1.33
7 Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort. Clin J Am Soc Nephrol 2010 1.32
8 Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). J Med Genet 2013 1.32
9 Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly. J Med Genet 2012 1.30
10 Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. Eur J Hum Genet 2005 1.28
11 Frequent genomic abnormalities at TWIST in human pediatric osteosarcomas. Int J Cancer 2005 1.10
12 Bardet-Biedl syndrome highlights the major role of the primary cilium in efficient water reabsorption. Kidney Int 2011 0.99
13 Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism. Eur J Hum Genet 2006 0.98
14 Involvement of MET/TWIST/APC combination or the potential role of ossification factors in pediatric high-grade osteosarcoma oncogenesis. Neoplasia 2007 0.95
15 Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects. Am J Hum Genet 2011 0.93
16 BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response. Cell Metab 2012 0.93
17 Pharmacological modulation of the retinal unfolded protein response in Bardet-Biedl syndrome reduces apoptosis and preserves light detection ability. J Biol Chem 2012 0.91
18 Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes. Eur J Med Genet 2010 0.85
19 Temporospatial gene expression and protein localization of matrix metalloproteinases and their inhibitors during mouse molar tooth development. Dev Dyn 2003 0.84
20 [Bardet-Biedl syndrome: a unique family for a major gene (BBS10)]. Med Sci (Paris) 2006 0.79
21 A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype. Ophthalmic Genet 2011 0.77
22 Differential regulation of TIMP-1, -2, and -3 mRNA and protein expressions during mouse incisor development. Cell Tissue Res 2006 0.77
23 Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation. Am J Med Genet 2002 0.76
24 Recurrent insertional polydactyly and situs inversus in a Bardet-Biedl syndrome family. Am J Med Genet A 2007 0.75
25 Natural TWIST protein variants in a panel of eleven non-human primates: possible implications of TWIST gene-tree for primate species tree. Dev Genes Evol 2002 0.75