| The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data S Köhler, SC Doelken, CJ Mungall, S Bauer, HV Firth, I Bailleul-Forestier, ... Nucleic acids research 42 (D1), D966-D974, 2014 | 924 | 2014 |
| Clinical diagnostics in human genetics with semantic similarity searches in ontologies S Köhler, MH Schulz, P Krawitz, S Bauer, S Dölken, CE Ott, C Mundlos, ... The American Journal of Human Genetics 85 (4), 457-464, 2009 | 565 | 2009 |
| Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome PM Krawitz, MR Schweiger, C Rödelsperger, C Marcelis, U Kölsch, ... Nature genetics 42 (10), 827-829, 2010 | 379 | 2010 |
| 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 | 285 | 2014 |
| Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion E Klopocki, S Lohan, SC Doelken, S Stricker, CW Ockeloen, ... Journal of medical genetics 49 (2), 119-125, 2012 | 109 | 2012 |
| Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research S Köhler, SC Doelken, BJ Ruef, S Bauer, N Washington, M Westerfield, ... F1000Research 2, 2013 | 93 | 2013 |
| Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas‐type polysyndactyly and Laurin‐Sandrow syndrome S Lohan, M Spielmann, SC Doelken, R Flöttmann, F Muhammad, ... Clinical Genetics 86 (4), 318-325, 2014 | 91 | 2014 |
| Automatic concept recognition using the human phenotype ontology reference and test suite corpora T Groza, S Köhler, S Doelken, N Collier, A Oellrich, D Smedley, FM Couto, ... Database 2015, bav005, 2015 | 83 | 2015 |
| MouseFinder: candidate disease genes from mouse phenotype data CK Chen, CJ Mungall, GV Gkoutos, SC Doelken, S Köhler, BJ Ruef, ... Human mutation 33 (5), 858-866, 2012 | 74 | 2012 |
| Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management S Heidemann, C Fischer, C Engel, B Fischer, L Harder, B Schlegelberger, ... Breast cancer research and treatment 134, 1229-1239, 2012 | 64 | 2012 |
| Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families N Tayebi, A Jamsheer, R Flöttmann, A Sowinska-Seidler, SC Doelken, ... Orphanet journal of rare diseases 9, 1-9, 2014 | 59 | 2014 |
| Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and … SC Doelken, S Köhler, CJ Mungall, GV Gkoutos, BJ Ruef, C Smith, ... Disease Models & Mechanisms 6 (2), 358-372, 2013 | 54 | 2013 |
| Induction of macrophage chemotaxis by aortic extracts from patients with Marfan syndrome is related to elastin binding protein G Guo, P Gehle, S Doelken, JL Martin-Ventura, Y Von Kodolitsch, ... PloS one 6 (5), e20138, 2011 | 46 | 2011 |
| Ontological phenotype standards for neurogenetics S Köhler, SC Doelken, A Rath, S Aymé, PN Robinson Human mutation 33 (9), 1333-1339, 2012 | 44 | 2012 |
| A GDF5 point mutation strikes twice-causing BDA1 and SYNS2 E Degenkolbe, J König, J Zimmer, M Walther, C Reißner, J Nickel, ... PLoS genetics 9 (10), e1003846, 2013 | 41 | 2013 |
| Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations DM Ibrahim, P Hansen, C Rödelsperger, AC Stiege, SC Doelken, D Horn, ... Genome research 23 (12), 2091-2102, 2013 | 40 | 2013 |
| Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project WS Oetting, PN Robinson, MS Greenblatt, RG Cotton, T Beck, JC Carey, ... Human mutation 34 (4), 661-666, 2013 | 33 | 2013 |
| Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion A Jamsheer, T Zemojtel, M Kolanczyk, S Stricker, J Hecht, P Krawitz, ... Journal of medical genetics 50 (9), 579-584, 2013 | 31 | 2013 |
| Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe LM Graul-Neumann, A Deichsel, U Wille, N Kakar, R Koll, C Bassir, ... European Journal of Human Genetics 22 (6), 726-733, 2014 | 30 | 2014 |
| Clinical interpretation of CNVs with cross-species phenotype data S Köhler, U Schoeneberg, JC Czeschik, SC Doelken, JY Hehir-Kwa, ... Journal of medical genetics 51 (11), 766-772, 2014 | 26 | 2014 |
Peter RobinsonBerlin Institute of Health, Charité - Universitätsmedizin, Berlin, GermanyVerified email at bih-charite.de
