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| Clinical and genetic features of Ehlers–Danlos syndrome type IV, the vascular type M Pepin, U Schwarze, A Superti-Furga, PH Byers New England Journal of Medicine 342 (10), 673-680, 2000 | 1526 | 2000 |
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| Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta Y Alanay, H Avaygan, N Camacho, GE Utine, K Boduroglu, D Aktas, ... The American Journal of Human Genetics 86 (4), 551-559, 2010 | 368 | 2010 |
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| Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis D Krakow, SP Robertson, LM King, T Morgan, ET Sebald, C Bertolotto, ... Nature genetics 36 (4), 405-410, 2004 | 309 | 2004 |
Daniel CohnUCLAVerified email at mcdb.ucla.edu
