Stefan Mundlos
Stefan Mundlos
Institut für Medizinische Genetik und Humangenetik, Charité
Verified email at - Homepage
Cited by
Cited by
Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development
F Otto, AP Thornell, T Crompton, A Denzel, KC Gilmour, IR Rosewell, ...
Cell 89 (5), 765-771, 1997
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
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
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
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
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
Nosology and classification of genetic skeletal disorders: 2010 revision
ML Warman, V Cormier‐Daire, C Hall, D Krakow, R Lachman, M LeMerrer, ...
American journal of medical genetics Part A 155 (5), 943-968, 2011
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
Formation of new chromatin domains determines pathogenicity of genomic duplications
M Franke, DM Ibrahim, G Andrey, W Schwarzer, V Heinrich, R Schöpflin, ...
Nature 538 (7624), 265-269, 2016
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
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
Structural variation in the 3D genome
M Spielmann, DG Lupiáñez, S Mundlos
Nature Reviews Genetics 19 (7), 453-467, 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
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
Regulation of chondrocyte differentiation by Cbfa1
IS Kim, F Otto, B Zabel, S Mundlos
Mechanisms of development 80 (2), 159-170, 1999
Cleidocranial dysplasia: clinical and molecular genetics
S Mundlos
Journal of medical genetics 36 (3), 177-182, 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
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
Breaking TADs: how alterations of chromatin domains result in disease
DG Lupiáñez, M Spielmann, S Mundlos
Trends in Genetics 32 (4), 225-237, 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
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