| Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes B Lee, M Godfrey, E Vitale, H Hori, MG Mattei, M Sarfarazi, P Tsipouras, ... Nature 352 (6333), 330-334, 1991 | 854 | 1991 |
| Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia B Lee, K Thirunavukkarasu, L Zhou, L Pastore, A Baldini, J Hecht, ... Nature genetics 16 (3), 307-310, 1997 | 693 | 1997 |
| Recurrent reciprocal 1q21. 1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities N Brunetti-Pierri, JS Berg, F Scaglia, J Belmont, CA Bacino, T Sahoo, ... Nature genetics 40 (12), 1466-1471, 2008 | 687 | 2008 |
| CRTAP is required for prolyl 3-hydroxylation and mutations cause recessive osteogenesis imperfecta R Morello, TK Bertin, Y Chen, J Hicks, L Tonachini, M Monticone, ... Cell 127 (2), 291-304, 2006 | 610 | 2006 |
| Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome H Chen, Y Lun, D Ovchinnikov, H Kokubo, KC Oberg, CV Pepicelli, L Can, ... Nature genetics 19 (1), 51-55, 1998 | 610 | 1998 |
| Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome SD Dreyer, G Zhou, A Baldini, A Winterpacht, B Zabel, W Cole, ... Nature genetics 19 (1), 47-50, 1998 | 581 | 1998 |
| Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1) J Ahn, HJ Lüdecke, S Lindow, WA Horton, B Lee, MJ Wagner, ... Nature genetics 11 (2), 137-143, 1995 | 544 | 1995 |
| Dimorphic effects of Notch signaling in bone homeostasis F Engin, Z Yao, T Yang, G Zhou, T Bertin, MM Jiang, Y Chen, L Wang, ... Nature medicine 14 (3), 299-305, 2008 | 486 | 2008 |
| Use of exome sequencing for infants in intensive care units: ascertainment of severe single-gene disorders and effect on medical management L Meng, M Pammi, A Saronwala, P Magoulas, AR Ghazi, F Vetrini, ... JAMA pediatrics 171 (12), e173438-e173438, 2017 | 444 | 2017 |
| Dominance of SOX9 function over RUNX2 during skeletogenesis G Zhou, Q Zheng, F Engin, E Munivez, Y Chen, E Sebald, D Krakow, ... Proceedings of the National Academy of Sciences 103 (50), 19004-19009, 2006 | 428 | 2006 |
| 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 | 421 | 2006 |
| WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta CM Laine, KS Joeng, PM Campeau, R Kiviranta, K Tarkkonen, M Grover, ... New England Journal of Medicine 368 (19), 1809-1816, 2013 | 403 | 2013 |
| Type X collagen gene regulation by Runx2 contributes directly to its hypertrophic chondrocyte–specific expression in vivo Q Zheng, G Zhou, R Morello, Y Chen, X Garcia-Rojas, B Lee Journal of Cell Biology 162 (5), 833-842, 2003 | 390 | 2003 |
| The osteogenic niche promotes early-stage bone colonization of disseminated breast cancer cells H Wang, C Yu, X Gao, T Welte, AM Muscarella, L Tian, H Zhao, Z Zhao, ... Cancer cell 27 (2), 193-210, 2015 | 376 | 2015 |
| 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 | 375 | 2010 |
| Effect of genetic diagnosis on patients with previously undiagnosed disease K Splinter, DR Adams, CA Bacino, HJ Bellen, JA Bernstein, ... New england journal of medicine 379 (22), 2131-2139, 2018 | 362 | 2018 |
| Excessive transforming growth factor-β signaling is a common mechanism in osteogenesis imperfecta I Grafe, T Yang, S Alexander, EP Homan, C Lietman, MM Jiang, T Bertin, ... Nature medicine 20 (6), 670-675, 2014 | 318 | 2014 |
| Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5 P Tsipouras, R Del Mastro, M Sarfarazi, B Lee, E Vitale, AH Child, ... New England Journal of Medicine 326 (14), 905-909, 1992 | 297 | 1992 |
| The genetic basis of DOORS syndrome: an exome-sequencing study PM Campeau, D Kasperaviciute, JT Lu, LC Burrage, C Kim, M Hori, ... The Lancet Neurology 13 (1), 44-58, 2014 | 291 | 2014 |
| A natural history of cleidocranial dysplasia SC Cooper, CM Flaitz, DA Johnston, B Lee, JT Hecht American journal of medical genetics 104 (1), 1-6, 2001 | 288 | 2001 |
