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 | 825 | 2007 |
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3 PL Tavormina, R Shiang, LM Thompson, YZ Zhu, DJ Wilkin, RS Lachman, ... Nature genetics 9 (3), 321-328, 1995 | 697 | 1995 |
Nosology and classification of genetic skeletal disorders: 2019 revision GR Mortier, DH Cohn, V Cormier‐Daire, C Hall, D Krakow, S Mundlos, ... American journal of medical genetics Part A 179 (12), 2393-2419, 2019 | 661 | 2019 |
Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene MD Briggs, SMG Hoffman, LM King, AS Olsen, H Mohrenweiser, JG Leroy, ... Nature genetics 10 (3), 330-336, 1995 | 599 | 1995 |
Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene A Colige, AL Sieron, SW Li, U Schwarze, E Petty, W Wertelecki, W Wilcox, ... The American Journal of Human Genetics 65 (2), 308-317, 1999 | 459 | 1999 |
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 |
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis Y Gong, D Krakow, J Marcelino, D Wilkin, D Chitayat, R Babul-Hirji, ... Nature genetics 21 (3), 302-304, 1999 | 393 | 1999 |
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 |
A type X collagen mutation causes Schmid metaphyseal chondrodysplasia ML Warman, M Abbott, SS Apte, T Hefferon, I McIntosh, DH Cohn, ... Nature genetics 5 (1), 79-82, 1993 | 321 | 1993 |
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 | 320 | 2004 |
Neoplastic progression occurs through mutator pathways in hyperplastic polyposis of the colorectum JR Jass, H Iino, A Ruszkiewicz, D Painter, MJ Solomon, DJ Koorey, ... Gut 47 (1), 43-49, 2000 | 309 | 2000 |
Procollagen II amino propeptide processing by ADAMTS-3: insights on dermatosparaxis RJ Fernandes, S Hirohata, JM Engle, A Colige, DH Cohn, DR Eyre, ... Journal of Biological Chemistry 276 (34), 31502-31509, 2001 | 297 | 2001 |
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia MJ Rock, J Prenen, VA Funari, TL Funari, B Merriman, SF Nelson, ... Nature genetics 40 (8), 999-1003, 2008 | 270 | 2008 |
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta D Baldridge, U Schwarze, R Morello, J Lennington, TK Bertin, JM Pace, ... Human mutation 29 (12), 1435-1442, 2008 | 260 | 2008 |
Nosology of genetic skeletal disorders: 2023 revision S Unger, CR Ferreira, GR Mortier, H Ali, DR Bertola, A Calder, DH Cohn, ... American Journal of Medical Genetics Part A 191 (5), 1164-1209, 2023 | 252 | 2023 |
Bacterial Bioluminescence: Isolation and Expression of the Luciferase Genes from Vibrio harveyi R Belas, A Mileham, D Cohn, M Hilman, M Simon, M Silverman Science 218 (4574), 791-793, 1982 | 246 | 1982 |
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene A Superti-Furga, J Hästbacka, WR Wilcox, DH Cohn, HJ van der Harten, ... Nature genetics 12 (1), 100-102, 1996 | 237 | 1996 |
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia D Krakow, J Vriens, N Camacho, P Luong, H Deixler, TL Funari, ... The American Journal of Human Genetics 84 (3), 307-315, 2009 | 230 | 2009 |
Mutations in SERPINF1 cause osteogenesis imperfecta type VI EP Homan, F Rauch, I Grafe, C Lietman, JA Doll, B Dawson, T Bertin, ... Journal of bone and mineral research 26 (12), 2798-2803, 2011 | 219 | 2011 |
Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia–multiple epiphyseal dysplasia disease spectrum MD Briggs, GR Mortier, WG Cole, LM King, SS Golik, J Bonaventure, ... The American Journal of Human Genetics 62 (2), 311-319, 1998 | 217 | 1998 |