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| The single-cell transcriptional landscape of mammalian organogenesis J Cao, M Spielmann, X Qiu, X Huang, DM Ibrahim, AJ Hill, F Zhang, ... Nature 566 (7745), 496-502, 2019 | 2989 | 2019 |
| Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions DG Lupiáñez, K Kraft, V Heinrich, P Krawitz, F Brancati, E Klopocki, ... Cell 161 (5), 1012-1025, 2015 | 2215 | 2015 |
| Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia S Mundlos, F Otto, C Mundlos, JB Mulliken, AS Aylsworth, S Albright, ... Cell 89 (5), 773-779, 1997 | 1921 | 1997 |
| 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 | 1072 | 2008 |
| The receptor tyrosine kinase Ror2 is involved in non‐canonical Wnt5a/JNK signalling pathway I Oishi, H Suzuki, N Onishi, R Takada, S Kani, B Ohkawara, I Koshida, ... Genes to Cells 8 (7), 645-654, 2003 | 950 | 2003 |
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| Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13 Y Muragaki, S Mundlos, J Upton, BR Olsen Science 272 (5261), 548-551, 1996 | 706 | 1996 |
| A high-resolution anatomical atlas of the transcriptome in the mouse embryo G Diez-Roux, S Banfi, M Sultan, L Geffers, S Anand, D Rozado, A Magen, ... PLoS biology 9 (1), e1000582, 2011 | 687 | 2011 |
| Nosology and classification of genetic skeletal disorders: 2015 revision L Bonafe, V Cormier‐Daire, C Hall, R Lachman, G Mortier, S Mundlos, ... American journal of medical genetics Part A 167 (12), 2869-2892, 2015 | 684 | 2015 |
| Structural variation in the 3D genome M Spielmann, DG Lupiáñez, S Mundlos Nature Reviews Genetics 19 (7), 453-467, 2018 | 678 | 2018 |
| 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 | 643 | 2017 |
| Nosology and classification of genetic skeletal disorders: 2019 revision GR Mortier, DH Cohn, V Cormier‐Daire, C Hall, D Krakow, S Mundlos, ... American journal of medical genetics Part A 179 (12), 2393-2419, 2019 | 601 | 2019 |
| Regulation of chondrocyte differentiation by Cbfa1 IS Kim, F Otto, B Zabel, S Mundlos Mechanisms of development 80 (2), 159-170, 1999 | 572 | 1999 |
| 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 | 570 | 2009 |
| Cleidocranial dysplasia: clinical and molecular genetics S Mundlos Journal of medical genetics 36 (3), 177-182, 1999 | 567 | 1999 |
| Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1 FS Kaplan, M Xu, P Seemann, JM Connor, DL Glaser, L Carroll, P Delai, ... Human mutation 30 (3), 379-390, 2009 | 491 | 2009 |
| Breaking TADs: how alterations of chromatin domains result in disease DG Lupiáñez, M Spielmann, S Mundlos Trends in Genetics 32 (4), 225-237, 2016 | 477 | 2016 |
| Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporter E Turk, B Zabel, S Mundlos, J Dyer, EM Wright Nature 350 (6316), 354-356, 1991 | 454 | 1991 |
