Bruno Copin

Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation

Seth L. Masters, Vasiliki Lagou, Isabelle Jéru et al. · Science Translational Medicine · 2016 · 311 citations

Medicine, Dermatology, Genetics +17

Recurrent Mutations in a Single Exon Encoding the Evolutionarily Conserved Olfactomedin-Homology Domain of TIGR in Familial Open-Angle Glaucoma

M F Adam, Ahmed Belmouden, P. Binisti et al. · Human Molecular Genetics · 1997 · 282 citations · Full text

Medicine, Genetics, Ophthalmology +12

Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia

Marjorie Whitfield, Lucie Thomas, Émilie Béquignon et al. · The American Journal of Human Genetics · 2019 · 195 citations · Full text

Medicine, Genetics, Molecular Genetics +10

Loss-of-Function Mutations in LRRC6 , a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia

Esther Kott, Philippe Duquesnoy, Bruno Copin et al. · The American Journal of Human Genetics · 2012 · 188 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects

Esther Kott, Marie Legendre, Bruno Copin et al. · The American Journal of Human Genetics · 2013 · 183 citations · Full text

Medicine, Molecular Genetics, Neuroscience +6