| Osteogenesis imperfecta A Forlino, JC Marini The Lancet 387 (10028), 1657-1671, 2016 | 893 | 2016 |
| Osteogenesis imperfecta JC Marini, WA Cabral Genetics of bone biology and skeletal disease, 397-420, 2018 | 827 | 2018 |
| New perspectives on osteogenesis imperfecta A Forlino, WA Cabral, AM Barnes, JC Marini Nature Reviews Endocrinology 7 (9), 540-557, 2011 | 819 | 2011 |
| Bent helical structure in kinetoplast DNA JC Marini, SD Levene, DM Crothers, PT Englund Proceedings of the National Academy of Sciences 79 (24), 7664-7668, 1982 | 786 | 1982 |
| Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and … JC Marini, A Forlino, WA Cabral, AM Barnes, JD San Antonio, S Milgrom, ... Human mutation 28 (3), 209-221, 2007 | 783 | 2007 |
| Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta WA Cabral, W Chang, AM Barnes, MA Weis, MA Scott, S Leikin, ... Nature genetics 39 (3), 359-365, 2007 | 548 | 2007 |
| The burden of musculoskeletal conditions at the start of the new millennium WHO Scientific Group on the Burden of Musculoskeletal Conditions at the ... World Health Organization technical report series 919, i, 2003 | 425* | 2003 |
| Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta AM Barnes, W Chang, R Morello, WA Cabral, MA Weis, DR Eyre, S Leikin, ... New England Journal of Medicine 355 (26), 2757-2764, 2006 | 408 | 2006 |
| Candidate cell and matrix interaction domains on the collagen fibril, the predominant protein of vertebrates SM Sweeney, JP Orgel, A Fertala, JD McAuliffe, KR Turner, GA Di Lullo, ... Journal of biological chemistry 283 (30), 21187-21197, 2008 | 331 | 2008 |
| The molecular biology of trypanosomes PT Englund, SL Hajduk, JC Marini Annual review of biochemistry 51 (1), 695-726, 1982 | 309 | 1982 |
| Mutations in WNT1 cause different forms of bone fragility K Keupp, F Beleggia, H Kayserili, AM Barnes, M Steiner, O Semler, ... The American Journal of Human Genetics 92 (4), 565-574, 2013 | 296 | 2013 |
| Evaluation of oral problems in an osteogenesis imperfecta population AC O’connell, JC Marini Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and …, 1999 | 282 | 1999 |
| Controlled trial of pamidronate in children with types III and IV osteogenesis imperfecta confirms vertebral gains but not short‐term functional improvement AD Letocha, HL Cintas, JF Troendle, JC Reynolds, CE Cann, EJ Chernoff, ... Journal of Bone and Mineral Research 20 (6), 977-986, 2005 | 257 | 2005 |
| New genes in bone development: what's new in osteogenesis imperfecta JC Marini, AR Blissett The Journal of Clinical Endocrinology & Metabolism 98 (8), 3095-3103, 2013 | 239 | 2013 |
| Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding AM Barnes, EM Carter, WA Cabral, MA Weis, W Chang, E Makareeva, ... New England Journal of Medicine 362 (6), 521-528, 2010 | 209 | 2010 |
| Decatenation of kinetoplast DNA by topoisomerases. JC Marini, KG Miller, PT Englund The Journal of Biological Chemistry 255 (11), 4976-4979, 1980 | 196 | 1980 |
| Do bisphosphonates make children's bones better or brittle? JC Marini New England Journal of Medicine 349 (5), 423-426, 2003 | 175 | 2003 |
| Use of the Cre/lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an α1 (I) G349C substitution: variability in phenotype in … A Forlino, FD Porter, EJ Lee, H Westphal, JC Marini Journal of Biological Chemistry 274 (53), 37923-37931, 1999 | 166 | 1999 |
| Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation JC Marini, A Reich, SM Smith Current opinion in pediatrics 26 (4), 500-507, 2014 | 165 | 2014 |
| Physical characterization of a kinetoplast DNA fragment with unusual properties. JC Marini, PN Effron, TC Goodman, CK Singleton, RD Wells, RM Wartell, ... Journal of Biological Chemistry 259 (14), 8974-8979, 1984 | 157 | 1984 |
