Stefan Mundlos
Stefan Mundlos
Institut für Medizinische Genetik und Humangenetik, Charité
Verified email at molgen.mpg.de - Homepage
TitleCited byYear
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
28741997
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
16021997
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
7932015
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
7142003
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
6272011
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
6011996
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
5872008
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
4732011
Regulation of chondrocyte differentiation by Cbfa1
IS Kim, F Otto, B Zabel, S Mundlos
Mechanisms of development 80 (2), 159-170, 1999
4651999
Cleidocranial dysplasia: clinical and molecular genetics
S Mundlos
Journal of medical genetics 36 (3), 177-182, 1999
4381999
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
3582015
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, 1991
3511991
Plant nitric oxide synthase: a never-ending story?
T Zemojtel, A Fröhlich, MC Palmieri, M Kolanczyk, I Mikula, LS Wyrwicz, ...
Trends in plant science 11 (11), 524-525, 2006
3332006
Nuclear localization of the protein encoded by the Wilms' tumor gene WT1 in embryonic and adult tissues
S Mundlos, J Pelletier, A Darveau, M Bachmann, A Winterpacht, B Zabel
Development 119 (4), 1329-1341, 1993
3331993
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, 2010
3182010
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
3012009
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux
CF Bartels, H Bükülmez, P Padayatti, DK Rhee, C van Ravenswaaij-Arts, ...
The American Journal of Human Genetics 75 (1), 27-34, 2004
3012004
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2
U Kornak, E Reynders, A Dimopoulou, J Van Reeuwijk, B Fischer, ...
Nature genetics 40 (1), 32, 2008
2982008
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
2892009
Mutations in the RUNX2 gene in patients with cleidocranial dysplasia
F Otto, H Kanegane, S Mundlos
Human mutation 19 (3), 209-216, 2002
2772002
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