Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism Y Ueki, V Tiziani, C Santanna, N Fukai, C Maulik, J Garfinkle, C Ninomiya, ... Nature genetics 28 (2), 125-126, 2001 | 423 | 2001 |
Clinical genetics of familial keloids AG Marneros, JEC Norris, BR Olsen, E Reichenberger Archives of dermatology 137 (11), 1429-1434, 2001 | 383 | 2001 |
Genome scans provide evidence for keloid susceptibility loci on chromosomes 2q23 and 7p11 AG Marneros, JEC Norris, S Watanabe, E Reichenberger, BR Olsen Journal of Investigative Dermatology 122 (5), 1126-1132, 2004 | 277 | 2004 |
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 | 211 | 2001 |
Cherubism: best clinical practice ME Papadaki, SA Lietman, MA Levine, BR Olsen, LB Kaban, ... Orphanet journal of rare diseases 7, 1-14, 2012 | 198 | 2012 |
Increased myeloid cell responses to M-CSF and RANKL cause bone loss and inflammation in SH3BP2 “cherubism” mice Y Ueki, CY Lin, M Senoo, T Ebihara, N Agata, M Onji, Y Saheki, T Kawai, ... Cell 128 (1), 71-83, 2007 | 196 | 2007 |
Type X collagen expression in osteoarthritic and rheumatoid articular cartilage T Aigner, E Reichenberger, W Bertling, T Kirsch, H Stöss, K Von der Mark Virchows Archiv B 63, 205-211, 1993 | 183 | 1993 |
In situ hybridization studies on the expression of type X collagen in fetal human cartilage E Reichenberger, T Aigner, K Von Der Mark, H Stöss, W Bertling Developmental biology 148 (2), 562-572, 1991 | 168 | 1991 |
A double-deletion mutation in the Pitx3 gene causes arrested lens development in aphakia mice DK Rieger, E Reichenberger, W McLean, A Sidow, BR Olsen Genomics 72 (1), 61-72, 2001 | 153 | 2001 |
The gene for cherubism maps to chromosome 4p16 V Tiziani, E Reichenberger, CL Buzzo, S Niazi, N Fukai, M Stiller, ... The American Journal of Human Genetics 65 (1), 158-166, 1999 | 150 | 1999 |
The role of SH3BP2 in the pathophysiology of cherubism EJ Reichenberger, MA Levine, BR Olsen, ME Papadaki, SA Lietman Orphanet Journal of Rare Diseases 7, 1-12, 2012 | 114 | 2012 |
Activation of NFκB signal pathways in keloid fibroblasts DV Messadi, HS Doung, Q Zhang, AP Kelly, TL Tuan, E Reichenberger, ... Archives of dermatological research 296, 125-133, 2004 | 109 | 2004 |
3BP2-deficient mice are osteoporotic with impaired osteoblast and osteoclast functions N Levaot, PD Simoncic, ID Dimitriou, A Scotter, J La Rose, AHM Ng, ... The Journal of clinical investigation 121 (8), 3244-3257, 2011 | 78 | 2011 |
A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia Y Hu, IP Chen, S de Almeida, V Tiziani, CMR Do Amaral, K Gowrishankar, ... PloS one 8 (8), e73576, 2013 | 75 | 2013 |
Mutations in KCTD1 cause scalp-ear-nipple syndrome AG Marneros, AE Beck, EH Turner, MJ McMillin, MJ Edwards, M Field, ... The American Journal of Human Genetics 92 (4), 621-626, 2013 | 69 | 2013 |
SH3BP2 Cherubism Mutation Potentiates TNF‐α–Induced Osteoclastogenesis via NFATc1 and TNF‐α–Mediated Inflammatory Bone Loss T Mukai, S Ishida, R Ishikawa, T Yoshitaka, M Kittaka, R Gallant, YL Lin, ... Journal of Bone and Mineral Research 29 (12), 2618-2635, 2014 | 68 | 2014 |
Induced pluripotent stem cell reprogramming by integration-free Sendai virus vectors from peripheral blood of patients with craniometaphyseal dysplasia IP Chen, K Fukuda, N Fusaki, A Iida, M Hasegawa, A Lichtler, ... Cellular Reprogramming (Formerly" Cloning and Stem Cells") 15 (6), 503-513, 2013 | 62 | 2013 |
Saliva as a source of genomic DNA for genetic studies: review of current methods and applications F Sun, EJ Reichenberger Oral Health Dent Manag 13 (2), 217-22, 2014 | 60 | 2014 |
Genomic organization and full‐length cDNA sequence of human collagen X E Reichenberger, F Beier, P LuValle, BR Olsen, K von der Mark, ... FEBS letters 311 (3), 305-310, 1992 | 60 | 1992 |
A Phe377del mutation in ANK leads to impaired osteoblastogenesis and osteoclastogenesis in a mouse model for craniometaphyseal dysplasia (CMD) IP Chen, L Wang, X Jiang, HL Aguila, EJ Reichenberger Human molecular genetics 20 (5), 948-961, 2011 | 57 | 2011 |