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| MutationTaster2: mutation prediction for the deep-sequencing age JM Schwarz, DN Cooper, M Schuelke, D Seelow Nature methods 11 (4), 361-362, 2014 | 3549 | 2014 |
| MutationTaster evaluates disease-causing potential of sequence alterations JM Schwarz, C Rödelsperger, M Schuelke, D Seelow Nature methods 7 (8), 575-576, 2010 | 3164 | 2010 |
| Myostatin mutation associated with gross muscle hypertrophy in a child M Schuelke, KR Wagner, LE Stolz, C Hübner, T Riebel, W Kömen, ... New England Journal of Medicine 350 (26), 2682-2688, 2004 | 1879 | 2004 |
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| Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1 K Grohmann, M Schuelke, A Diers, K Hoffmann, B Lucke, C Adams, ... Nature genetics 29 (1), 75-77, 2001 | 400 | 2001 |
| The first nuclear-encoded complex I mutation in a patient with Leigh syndrome J Loeffen, J Smeitink, R Triepels, R Smeets, M Schuelke, R Sengers, ... The American Journal of Human Genetics 63 (6), 1598-1608, 1998 | 359 | 1998 |
| Variants in CPA1 are strongly associated with early onset chronic pancreatitis H Witt, S Beer, J Rosendahl, JM Chen, GR Chandak, A Masamune, ... Nature genetics 45 (10), 1216-1220, 2013 | 325 | 2013 |
| Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy M Schuelke, J Smeitink, E Mariman, J Loeffen, B Plecko, F Trijbels, ... Nature genetics 21 (3), 260-261, 1999 | 320 | 1999 |
| Mutations in the gene encoding gap junction protein α12 (connexin 46.6) cause Pelizaeus-Merzbacher–like disease B Uhlenberg, M Schuelke, F Rüschendorf, N Ruf, AM Kaindl, M Henneke, ... The American Journal of Human Genetics 75 (2), 251-260, 2004 | 306 | 2004 |
| 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 | 261 | 2009 |
| Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations A Rajab, V Straub, LJ McCann, D Seelow, R Varon, R Barresi, A Schulze, ... PLoS genetics 6 (3), e1000874, 2010 | 260 | 2010 |
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| Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1 (NF1) A Klose, M Reza Ahmadian, M Schuelke, K Scheffzek, S Hoffmeyer, ... Human molecular genetics 7 (8), 1261-1268, 1998 | 193 | 1998 |
| Systematic comparison of three methods for fragmentation of long-range PCR products for next generation sequencing E Knierim, B Lucke, JM Schwarz, M Schuelke, D Seelow PloS one 6 (11), e28240, 2011 | 191 | 2011 |
| Gamma oscillations in the hippocampus require high complex I gene expression and strong functional performance of mitochondria O Kann, C Huchzermeyer, R Kovacs, S Wirtz, M Schuelke Brain 134 (2), 345-358, 2011 | 187 | 2011 |
