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List of works by Corinne Stoetzel

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome

scientific article published on 09 November 2020

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

scientific article

BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families

scientific article

Bardet-Biedl syndrome: a unique family for a major gene (BBS10)

scientific article

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

scientific article

Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

scholarly article published in Nature Genetics

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

scientific article

Identification and Characterization of Known Biallelic Mutations in the () Gene in a Novel Family With Bardet-Biedl Syndrome

article

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome

scientific article

Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome.

scientific article published on 14 January 2016

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

scientific article published on 29 October 2010

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

scientific article

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes

scientific article

Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort

article

Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation

scientific article

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