| MutationTaster2: mutation prediction for the deep-sequencing age JM Schwarz, DN Cooper, M Schuelke, D Seelow Nature methods 11 (4), 361-362, 2014 | 3701 | 2014 |
| MutationTaster evaluates disease-causing potential of sequence alterations JM Schwarz, C Rödelsperger, M Schuelke, D Seelow Nature methods 7 (8), 575-576, 2010 | 3251 | 2010 |
| The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease PN Robinson, S Köhler, S Bauer, D Seelow, D Horn, S Mundlos The American Journal of Human Genetics 83 (5), 610-615, 2008 | 1053 | 2008 |
| Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible B Hinkes, RC Wiggins, R Gbadegesin, CN Vlangos, D Seelow, ... Nature genetics 38 (12), 1397-1405, 2006 | 674 | 2006 |
| The human phenotype ontology in 2017 S Köhler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Aymé, ... Nucleic acids research 45 (D1), D865-D876, 2017 | 634 | 2017 |
| Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement M Konrad, A Schaller, D Seelow, AV Pandey, S Waldegger, A Lesslauer, ... The American Journal of Human Genetics 79 (5), 949-957, 2006 | 573 | 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 | 435 | 2009 |
| Improved exome prioritization of disease genes through cross-species phenotype comparison PN Robinson, S Köhler, A Oellrich, K Wang, CJ Mungall, SE Lewis, ... Genome research 24 (2), 340-348, 2014 | 379 | 2014 |
| RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity D Jenkins, D Seelow, FS Jehee, CA Perlyn, LG Alonso, DF Bueno, ... The American Journal of Human Genetics 80 (6), 1162-1170, 2007 | 298 | 2007 |
| Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis M Attanasio, NH Uhlenhaut, VH Sousa, JF O'Toole, E Otto, K Anlag, ... Nature genetics 39 (8), 1018-1024, 2007 | 270 | 2007 |
| 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 | 267 | 2010 |
| 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 | 200 | 2011 |
| MutationTaster2021 R Steinhaus, S Proft, M Schuelke, DN Cooper, JM Schwarz, D Seelow Nucleic Acids Research 49 (W1), W446-W451, 2021 | 194 | 2021 |
| A systematic approach to mapping recessive disease genes in individuals from outbred populations F Hildebrandt, SF Heeringa, F Rüschendorf, M Attanasio, G Nürnberg, ... PLoS genetics 5 (1), e1000353, 2009 | 193 | 2009 |
| Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy JF O’Toole, Y Liu, EE Davis, CJ Westlake, M Attanasio, EA Otto, D Seelow, ... The Journal of clinical investigation 120 (3), 791-802, 2010 | 156 | 2010 |
| Genome-wide array analysis of normal and malformed human hearts B Kaynak, A von Heydebreck, S Mebus, D Seelow, S Hennig, J Vogel, ... Circulation 107 (19), 2467-2474, 2003 | 148 | 2003 |
| Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders A Michalk, S Stricker, J Becker, R Rupps, T Pantzar, J Miertus, G Botta, ... The American Journal of Human Genetics 82 (2), 464-476, 2008 | 146 | 2008 |
| Faulty initiation of proteoglycan synthesis causes cardiac and joint defects S Baasanjav, L Al-Gazali, T Hashiguchi, S Mizumoto, B Fischer, D Horn, ... The American Journal of Human Genetics 89 (1), 15-27, 2011 | 141 | 2011 |
| GeneDistiller—distilling candidate genes from linkage intervals D Seelow, JM Schwarz, M Schuelke PloS one 3 (12), e3874, 2008 | 135 | 2008 |
| Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia C Bergmann, J Senderek, D Anhuf, CT Thiel, AB Ekici, ... The American Journal of Human Genetics 79 (6), 1105-1109, 2006 | 121 | 2006 |
Markus SchuelkeProfessor of Neuropediatrics, Charité University Hospital, BerlinVerified email at charite.de
