Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1 FS Kaplan, M Xu, P Seemann, JM Connor, DL Glaser, L Carroll, P Delai, ... Human mutation 30 (3), 379-390, 2009 | 489 | 2009 |
Selenium deficiency is associated with mortality risk from COVID-19 A Moghaddam, RA Heller, Q Sun, J Seelig, A Cherkezov, L Seibert, ... Nutrients 12 (7), 2098, 2020 | 424 | 2020 |
Somatic mutation profiles of MSI and MSS colorectal cancer identified by whole exome next generation sequencing and bioinformatics analysis B Timmermann, M Kerick, C Roehr, A Fischer, M Isau, ST Boerno, ... PloS one 5 (12), e15661, 2010 | 283 | 2010 |
Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome CG Woods, S Stricker, P Seemann, R Stern, J Cox, E Sherridan, ... The American Journal of Human Genetics 79 (2), 402-408, 2006 | 276 | 2006 |
Mutations in PYCR1 cause cutis laxa with progeroid features B Reversade, N Escande-Beillard, A Dimopoulou, B Fischer, SC Chng, ... Nature genetics 41 (9), 1016-1021, 2009 | 270 | 2009 |
The fibrodysplasia ossificans progressiva R206H ACVR1 mutation activates BMP-independent chondrogenesis and zebrafish embryo ventralization Q Shen, SC Little, M Xu, J Haupt, C Ast, T Katagiri, S Mundlos, ... The Journal of clinical investigation 119 (11), 3462-3472, 2009 | 267 | 2009 |
Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2 P Seemann, R Schwappacher, KW Kjaer, D Krakow, K Lehmann, ... The Journal of clinical investigation 115 (9), 2373-2381, 2005 | 253 | 2005 |
Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2 K Dathe, KW Kjaer, A Brehm, P Meinecke, P Nürnberg, JC Neto, ... The American Journal of Human Genetics 84 (4), 483-492, 2009 | 201 | 2009 |
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2 K Lehmann, P Seemann, S Stricker, M Sammar, B Meyer, K Süring, ... Proceedings of the National Academy of Sciences 100 (21), 12277-12282, 2003 | 199 | 2003 |
Prediction of survival odds in COVID-19 by zinc, age and selenoprotein P as composite biomarker RA Heller, Q Sun, J Hackler, J Seelig, L Seibert, A Cherkezov, WB Minich, ... Redox biology 38, 101764, 2021 | 184 | 2021 |
Deletion and point mutations of PTHLH cause brachydactyly type E E Klopocki, BP Hennig, K Dathe, R Koll, T de Ravel, E Baten, E Blom, ... The American Journal of Human Genetics 86 (3), 434-439, 2010 | 147 | 2010 |
A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN K Lehmann, P Seemann, F Silan, TO Goecke, S Irgang, KW Kjaer, ... The American Journal of Human Genetics 81 (2), 388-396, 2007 | 131 | 2007 |
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis E Klopocki, S Lohan, F Brancati, R Koll, A Brehm, P Seemann, K Dathe, ... The American Journal of Human Genetics 88 (1), 70-75, 2011 | 123 | 2011 |
Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN P Seemann, A Brehm, J König, C Reissner, S Stricker, P Kuss, J Haupt, ... PLoS genetics 5 (11), e1000747, 2009 | 122 | 2009 |
BMPs in bone regeneration: Less is more effective, a paradigm-shift K Schmidt-Bleek, BM Willie, P Schwabe, P Seemann, GN Duda Cytokine & growth factor reviews 27, 141-148, 2016 | 120 | 2016 |
Skeletal metamorphosis in fibrodysplasia ossificans progressiva (FOP) FS Kaplan, Q Shen, V Lounev, P Seemann, J Groppe, T Katagiri, ... Journal of bone and mineral metabolism 26, 521-530, 2008 | 106 | 2008 |
An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression M Niedermaier, GC Schwabe, S Fees, A Helmrich, N Brieske, P Seemann, ... The Journal of clinical investigation 115 (4), 900-909, 2005 | 93 | 2005 |
A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2 K Lehmann, P Seemann, J Boergermann, G Morin, S Reif, P Knaus, ... European Journal of Human Genetics 14 (12), 1248-1254, 2006 | 83 | 2006 |
Mutant Hoxd13 induces extra digits in a mouse model of synpolydactyly directly and by decreasing retinoic acid synthesis P Kuss, P Villavicencio-Lorini, F Witte, J Klose, AN Albrecht, P Seemann, ... The Journal of clinical investigation 119 (1), 146-156, 2009 | 81 | 2009 |
Brachydactyly type A2 associated with a defect in proGDF5 processing F Plöger, P Seemann, M Schmidt-von Kegler, K Lehmann, J Seidel, ... Human molecular genetics 17 (9), 1222-1233, 2008 | 77 | 2008 |