| Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man U Kornak, D Kasper, MR Bösl, E Kaiser, M Schweizer, A Schulz, ... Cell 104 (2), 205-215, 2001 | 1239 | 2001 |
| Loss of the chloride channel ClC‐7 leads to lysosomal storage disease and neurodegeneration D Kasper, R Planells‐Cases, JC Fuhrmann, O Scheel, O Zeitz, K Ruether, ... The EMBO journal 24 (5), 1079-1091, 2005 | 440 | 2005 |
| Mutations in the a3 subunit of the vacuolar H+-ATPase cause infantile malignant osteopetrosis U Kornak, A Schulz, W Friedrich, S Uhlhaas, B Kremens, T Voit, C Hasan, ... Human molecular genetics 9 (13), 2059-2063, 2000 | 429 | 2000 |
| Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2 U Kornak, E Reynders, A Dimopoulou, J Van Reeuwijk, B Fischer, ... Nature genetics 40 (1), 32-34, 2008 | 426 | 2008 |
| Mutations in WNT1 cause different forms of bone fragility K Keupp, F Beleggia, H Kayserili, AM Barnes, M Steiner, O Semler, ... The American Journal of Human Genetics 92 (4), 565-574, 2013 | 318 | 2013 |
| Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome T Zemojtel, S Köhler, L Mackenroth, M Jäger, J Hecht, P Krawitz, ... Science translational medicine 6 (252), 252ra123-252ra123, 2014 | 292 | 2014 |
| 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 | 278 | 2009 |
| Cannabinoid receptor type 2 gene is associated with human osteoporosis M Karsak, M Cohen-Solal, J Freudenberg, A Ostertag, C Morieux, ... Human molecular genetics 14 (22), 3389-3396, 2005 | 273 | 2005 |
| Congenital disorders of glycosylation (CDG): Quo vadis? R Péanne, P De Lonlay, F Foulquier, U Kornak, DJ Lefeber, E Morava, ... European journal of medical genetics 61 (11), 643-663, 2018 | 268 | 2018 |
| Lysosomal pathology and osteopetrosis upon loss of H+-driven lysosomal Cl–accumulation S Weinert, S Jabs, C Supanchart, M Schweizer, N Gimber, M Richter, ... Science 328 (5984), 1401-1403, 2010 | 264 | 2010 |
| Genetic disorders of the skeleton: a developmental approach U Kornak, S Mundlos The American Journal of Human Genetics 73 (3), 447-474, 2003 | 246 | 2003 |
| Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6 M Poët, U Kornak, M Schweizer, AA Zdebik, O Scheel, S Hoelter, W Wurst, ... Proceedings of the National Academy of Sciences 103 (37), 13854-13859, 2006 | 238 | 2006 |
| Impaired gastric acidification negatively affects calcium homeostasis and bone mass T Schinke, AF Schilling, A Baranowsky, S Seitz, RP Marshall, T Linn, ... Nature medicine 15 (6), 674-681, 2009 | 229 | 2009 |
| A molecular pathogenesis for transcription factor associated poly-alanine tract expansions AN Albrecht, U Kornak, A Böddrich, K Süring, PN Robinson, AC Stiege, ... Human molecular genetics 13 (20), 2351-2359, 2004 | 198 | 2004 |
| Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin HC Hennies, U Kornak, H Zhang, J Egerer, X Zhang, W Seifert, ... Nature genetics 40 (12), 1410-1412, 2008 | 177 | 2008 |
| Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival V Hucthagowder, E Morava, U Kornak, DJ Lefeber, B Fischer, ... Human molecular genetics 18 (12), 2149-2165, 2009 | 169 | 2009 |
| Multiple roles for neurofibromin in skeletal development and growth M Kolanczyk, N Kossler, J Kühnisch, L Lavitas, S Stricker, U Wilkening, ... Human molecular genetics 16 (8), 874-886, 2007 | 158 | 2007 |
| A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis KJ Borthwick, N Kandemir, R Topaloglu, U Kornak, A Bakkaloglu, ... Journal of medical genetics 40 (2), 115-121, 2003 | 141 | 2003 |
| Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome F Brancati, P Fortugno, I Bottillo, M Lopez, E Josselin, ... The American Journal of Human Genetics 87 (2), 265-273, 2010 | 134 | 2010 |
| Inactivation of anoctamin‐6/Tmem16f, a regulator of phosphatidylserine scrambling in osteoblasts, leads to decreased mineral deposition in skeletal tissues HWA Ehlen, M Chinenkova, M Moser, HM Munter, Y Krause, S Gross, ... Journal of Bone and Mineral Research 28 (2), 246-259, 2013 | 133 | 2013 |
Stefan MundlosInstitut für Medizinische Genetik und Humangenetik, CharitéEmail verificata su molgen.mpg.de