| An economic method for the fluorescent labeling of PCR fragments M Schuelke Nature biotechnology 18 (2), 233-234, 2000 | 4484 | 2000 |
| MutationTaster2: mutation prediction for the deep-sequencing age JM Schwarz, DN Cooper, M Schuelke, D Seelow Nature methods 11 (4), 361-362, 2014 | 3758 | 2014 |
| MutationTaster evaluates disease-causing potential of sequence alterations JM Schwarz, C Rödelsperger, M Schuelke, D Seelow Nature methods 7 (8), 575-576, 2010 | 3285 | 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 | 1928 | 2004 |
| Lack of myostatin results in excessive muscle growth but impaired force generation H Amthor, R Macharia, R Navarrete, M Schuelke, SC Brown, A Otto, T Voit, ... Proceedings of the National Academy of Sciences 104 (6), 1835-1840, 2007 | 493 | 2007 |
| Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations LC López, M Schuelke, CM Quinzii, T Kanki, RJT Rodenburg, A Naini, ... The American Journal of Human Genetics 79 (6), 1125-1129, 2006 | 453 | 2006 |
| HomozygosityMapper—an interactive approach to homozygosity mapping D Seelow, M Schuelke, F Hildebrandt, P Nürnberg Nucleic acids research 37 (suppl_2), W593-W599, 2009 | 438 | 2009 |
| 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 | 413 | 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 | 366 | 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 | 340 | 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 | 326 | 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 | 314 | 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 | 276 | 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 | 273 | 2010 |
| The spectrum of WRN mutations in Werner syndrome patients S Huang, L Lee, NB Hanson, C Lenaerts, H Hoehn, M Poot, CD Rubin, ... Human mutation 27 (6), 558-567, 2006 | 254 | 2006 |
| Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing TB Haack, B Haberberger, EM Frisch, T Wieland, A Iuso, M Gorza, ... Journal of medical genetics 49 (4), 277-283, 2012 | 226 | 2012 |
| MutationTaster2021 R Steinhaus, S Proft, M Schuelke, DN Cooper, JM Schwarz, D Seelow Nucleic Acids Research 49 (W1), W446-W451, 2021 | 212 | 2021 |
| Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation MB Hartig, K Hörtnagel, B Garavaglia, G Zorzi, T Kmiec, T Klopstock, ... Annals of Neurology: Official Journal of the American Neurological …, 2006 | 209 | 2006 |
| 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 | 202 | 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 | 201 | 2011 |
