Muller, Jean Denis

Top Publications

Top Publications Authored or Co-Authored by "Muller, Jean Denis"

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

  Nature Genetics, Volume 38, No. 5, Year 2006, Citations 300
• DPY19L2 deletion as a major cause of globozoospermia

  American Journal of Human Genetics, Volume 88, No. 3, Year 2011, Citations 162
• Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: The burden of private mutations in an extensively heterogeneous disease

  Human Genetics, Volume 127, No. 5, Year 2010, Citations 123
• Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: Efficient mutation detection in Bardet-Biedl and Alström Syndromes

  Journal of Medical Genetics, Volume 49, No. 8, Year 2012, Citations 122
• Globozoospermia is mainly due to dpy19l2 deletion via non-allelic homologous recombination involving two recombination hotspots

  Human Molecular Genetics, Volume 21, No. 16, Article dds200, Year 2012, Citations 88