Leheup, Bruno P.

Top Publications

Top Publications Authored or Co-Authored by "Leheup, Bruno P."

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

  Nature Genetics, Volume 38, No. 5, Year 2006, Citations 300
• Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: An extensive international experience of 55 patients

  Journal of Clinical Endocrinology and Metabolism, Volume 96, No. 2, Year 2011, Citations 176
• Treacher Collins syndrome: A clinical and molecular study based on a large series of patients

  Genetics in Medicine, Volume 18, No. 1, Year 2016, Citations 119
• Mutation spectrum in the large gtpase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

  Human Mutation, Volume 33, No. 6, Year 2012, Citations 116
• A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

  Journal of Medical Genetics, Volume 53, No. 2, Year 2015, Citations 101