| LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development Y Gong, RB Slee, N Fukai, G Rawadi, S Roman-Roman, AM Reginato, ... Cell 107 (4), 513-523, 2001 | 2244 | 2001 |
| Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997 P Beighton, AD Paepe, B Steinmann, P Tsipouras, RJ Wenstrup American journal of medical genetics 77 (1), 31-37, 1998 | 1820 | 1998 |
| Articular mobility in an African population. PH Beighton, L Solomon, CL Soskolne Annals of the rheumatic diseases 32 (5), 413, 1973 | 1545 | 1973 |
| Bone Dysplasia Sclerosteosis Results from Loss of the< i> SOST</i> Gene Product, a Novel Cystine Knot–Containing Protein ME Brunkow, JC Gardner, J Van Ness, BW Paeper, BR Kovacevich, ... The American Journal of Human Genetics 68 (3), 577-589, 2001 | 900 | 2001 |
| Orthopaedic aspects of the Ehlers-Danlos syndrome PH Beighton, F Horan J Bone Joint Surg Br 51 (3), 444-453, 1969 | 573 | 1969 |
| Hypermobility of joints PH Beighton, R Grahame, H Bird Springer, 2011 | 566 | 2011 |
| A 52‐kb deletion in the SOST‐MEOX1 intergenic region on 17q12‐q21 is associated with van Buchem disease in the Dutch population K Staehling‐Hampton, S Proll, BW Paeper, L Zhao, P Charmley, A Brown, ... American journal of medical genetics 110 (2), 144-152, 2002 | 295 | 2002 |
| Split-Hand/Split-Foot Malformation Is Caused by Mutations in the< i> p63</i> Gene on 3q27 P Ianakiev, MW Kilpatrick, I Toudjarska, D Basel, P Beighton, P Tsipouras The American Journal of Human Genetics 67 (1), 59-66, 2000 | 292 | 2000 |
| Ehlers—Danlos Syndrome P Beighton, R Grahame, H Bird Hypermobility of Joints, 125-149, 1983 | 276* | 1983 |
| Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia) S Nicole, CS Davoine, H Topaloglu, L Cattolico, D Barral, P Beighton, ... Nature genetics 26 (4), 480-483, 2000 | 275 | 2000 |
| Ehlers-Danlos syndrome. P Beighton Annals of the rheumatic diseases 29 (3), 332, 1970 | 273 | 1970 |
| EHLERS-DANLOS SYNDROME ELKINGTO. SG, P BEIGHTON BRITISH MEDICAL JOURNAL 2 (5555), 843-&, 1967 | 273 | 1967 |
| Waardenberg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: First report of the WS consortium LA Farrer, KM Grundfast, J Amos, KS Arnos, JH Asher, P Beighton, ... American journal of human genetics 50 (5), 902, 1992 | 228 | 1992 |
| Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11 WJ Kimberling, CG Möller, S Davenport, IA Priluck, PH Beighton, ... Genomics 14 (4), 988-994, 1992 | 214 | 1992 |
| The natural history of sclerosteosis H Hamersma, J Gardner, P Beighton Clinical genetics 63 (3), 192-197, 2003 | 199 | 2003 |
| Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK E Reichenberger, V Tiziani, S Watanabe, L Park, Y Ueki, C Santanna, ... The American Journal of Human Genetics 68 (6), 1321-1326, 2001 | 186 | 2001 |
| Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2 B Sykes, D Ogilvie, P Wordsworth, G Wallis, C Mathew, P Beighton, ... American journal of human genetics 46 (2), 293, 1990 | 175 | 1990 |
| Bone mineral density in sclerosteosis; affected individuals and gene carriers JC Gardner, RL van Bezooijen, B Mervis, NAT Hamdy, CWGM Löwik, ... The Journal of Clinical Endocrinology & Metabolism 90 (12), 6392-6395, 2005 | 165 | 2005 |
| The dominant and recessive forms of cutis laxa. P Beighton Journal of medical genetics 9 (2), 216-221, 1972 | 165 | 1972 |
| Inherited disorders of the skeleton P Beighton Churchill Livingstone, 1988 | 158 | 1988 |
