Publications of S. Mundlos

Baasanjav, S.; Al-Gazali, L.; Hashiguchi, T.; Mizumoto, S.; Fischer, B.; Horn, D.; Seelow, D.; Ali, B. R.; Aziz, S. A.; Langer, R. et al.; Saleh, A. A.; Becker, C.; Nurnberg, G.; Cantagrel, V.; Gleeson, J. G.; Gomez, D.; Michel, J. B.; Stricker, S.; Lindner, T. H.; Nurnberg, P.; Sugahara, K.; Mundlos, S.; Hoffmann, K.: Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. Am J Hum Genet 89 (1), pp. 15 - 27 (2011)

Blau, O.; Baldus, C. D.; Hofmann, W. K.; Thiel, G.; Nolte, F.; Burmeister, T.; Turkmen, S.; Benlasfer, O.; Schumann, E.; Sindram, A. et al.; Molkentin, M.; Mundlos, S.; Keilholz, U.; Thiel, E.; Blau, I. W.: Mesenchymal stromal cells of myelodysplastic syndrome and acute myeloid leukemia patients have distinct genetic abnormalities compared with leukemic blasts. Blood 118 (20), pp. 5583 - 92 (2011)

Diez-Roux, G.; Banfi, S.; Sultan, M.; Geffers, L.; Anand, S.; Rozado, D.; Magen, A.; Canidio, E.; Pagani, M.; Peluso, I. et al.; Lin-Marq, N.; Koch, M.; Bilio, M.; Cantiello, I.; Verde, R.; De Masi, C.; Bianchi, S. A.; Cicchini, J.; Perroud, E.; Mehmeti, S.; Dagand, E.; Schrinner, S.; Nurnberger, A.; Schmidt, K.; Metz, K.; Zwingmann, C.; Brieske, N.; Springer, C.; Hernandez, A. M.; Herzog, S.; Grabbe, F.; Sieverding, C.; Fischer, B.; Schrader, K.; Brockmeyer, M.; Dettmer, S.; Helbig, C.; Alunni, V.; Battaini, M. A.; Mura, C.; Henrichsen, C. N.; Garcia-Lopez, R.; Echevarria, D.; Puelles, E.; Garcia-Calero, E.; Kruse, S.; Uhr, M.; Kauck, C.; Feng, G.; Milyaev, N.; Ong, C. K.; Kumar, L.; Lam, M.; Semple, C. A.; Gyenesei, A.; Mundlos, S.; Radelof, U.; Lehrach, H.; Sarmientos, P.; Reymond, A.; Davidson, D. R.; Dolle, P.; Antonarakis, S. E.; Yaspo, M. L.; Martinez, S.; Baldock, R. A.; Eichele, G.; Ballabio, A.: A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol 9 (1), p. e1000582 (2011)

Diez-Roux, G.; Banfi, S.; Sultan, M.; Geffers, L.; Anand, S.; Rozado, D.; Magen, A.; Canidio, E.; Pagani, M.; Peluso, I. et al.; Lin-Marq, N.; Koch, M.; Bilio, M.; Cantiello, I.; Verde, R.; De Masi, C.; Bianchi, S. A.; Cicchini, J.; Perroud, E.; Mehmeti, S.; Dagand, E.; Schrinner, S.; Nurnberger, A.; Schmidt, K.; Metz, K.; Zwingmann, C.; Brieske, N.; Springer, C.; Hernandez, A. M.; Herzog, S.; Grabbe, F.; Sieverding, C.; Fischer, B.; Schrader, K.; Brockmeyer, M.; Dettmer, S.; Helbig, C.; Alunni, V.; Battaini, M. A.; Mura, C.; Henrichsen, C. N.; Garcia-Lopez, R.; Echevarria, D.; Puelles, E.; Garcia-Calero, E.; Kruse, S.; Uhr, M.; Kauck, C.; Feng, G.; Milyaev, N.; Ong, C. K.; Kumar, L.; Lam, M.; Semple, C. A.; Gyenesei, A.; Mundlos, S.; Radelof, U.; Lehrach, H.; Sarmientos, P.; Reymond, A.; Davidson, D. R.; Dolle, P.; Antonarakis, S. E.; Yaspo, M. L.; Martinez, S.; Baldock, R. A.; Eichele, G.; Ballabio, A.: A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biology 9 (1), p. e1000582 (2011)

Heinrich, V.; Stange, J.; Dickhaus, T.; Imkeller, P.; Kruger, U.; Bauer, S.; Mundlos, S.; Robinson, P. N.; Hecht, J.; Krawitz, P. M.: The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process. Nucleic Acids Res (2011)

Jager, M.; Ott, C. E.; Grunhagen, J.; Hecht, J.; Schell, H.; Mundlos, S.; Duda, G. N.; Robinson, P. N.; Lienau, J.: Composite transcriptome assembly of RNA-seq data in a sheep model for delayed bone healing. BMC Genomics 12, p. 158 (2011)

Joss, S.; Kini, U.; Fisher, R.; Mundlos, S.; Prescott, K.; Newbury-Ecob, R.; Tolmie, J.: The face of Ulnar Mammary syndrome? Eur J Med Genet 54 (3), pp. 301 - 5 (2011)

Kerschnitzki, M.; Wagermaier, W.; Roschger, P.; Seto, J.; Shahar, R.; Duda, G. N.; Mundlos, S.; Fratzl, P.: The organization of the osteocyte network mirrors the extracellular matrix orientation in bone. J Struct Biol 173 (2), pp. 303 - 11 (2011)

Klopocki, E.; Lohan, S.; Brancati, F.; Koll, R.; Brehm, A.; Seemann, P.; Dathe, K.; Stricker, S.; Hecht, J.; Bosse, K. et al.; Betz, R. C.; Garaci, F. G.; Dallapiccola, B.; Jain, M.; Muenke, M.; Ng, V. C.; Chan, W.; Chan, D.; Mundlos, S.: Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. Am J Hum Genet 88 (1), pp. 70 - 5 (2011)

Kolanczyk, M.; Mautner, V.; Kossler, N.; Nguyen, R.; Kuhnisch, J.; Zemojtel, T.; Jamsheer, A.; Wegener, E.; Thurisch, B.; Tinschert, S. et al.; Holtkamp, N.; Park, S. J.; Birch, P.; Kendler, D.; Harder, A.; Mundlos, S.; Kluwe, L.: MIA is a potential biomarker for tumour load in neurofibromatosis type 1. BMC Med 9, p. 82 (2011)

Kolanczyk, M.; Pech, M.; Zemojte, T.; Yamamoto, H.; Mikula, I.; Calvaruso, M.-A.; van den Brand, M.; Richter, R.; Fischer, B.; Ritz, A. et al.; Kossler, N.; Thurisch, B.; Spoerle, R.; Smeitink, J.; Kornak, U.; Chan, D.; Vingron, M.; Martasek, P.; Lightowlers, R. N.; Nijtmans, L.; Schuelke, M.; Nierhaus, K. H.; Mundlos, S.: NOA1 is an essential GTPase required for mitochondrial protein synthesis. Molecular Biology of the Cell 22 (1), pp. 1 - 11 (2011)

Kossler, N.; Stricker, S.; Rodelsperger, C.; Robinson, P. N.; Kim, J.; Dietrich, C.; Osswald, M.; Kuhnisch, J.; Stevenson, D. A.; Braun, T. et al.; Mundlos, S.; Kolanczyk, M.: Neurofibromin (Nf1) is required for skeletal muscle development. Hum Mol Genet 20 (14), pp. 2697 - 709 (2011)

Lange, C.; Li, C.; Manjubala, I.; Wagermaier, W.; Kuhnisch, J.; Kolanczyk, M.; Mundlos, S.; Knaus, P.; Fratzl, P.: Fetal and postnatal mouse bone tissue contains more calcium than is present in hydroxyapatite. J Struct Biol 176 (2), pp. 159 - 67 (2011)

Marchal, J. A.; Ghani, M.; Schindler, D.; Gavvovidis, I.; Winkler, T.; Esquitino, V.; Sternberg, N.; Busche, A.; Krawitz, P.; Hecht, J. et al.; Robinson, P.; Mundlos, S.; Graul-Neumann, L.; Sperling, K.; Trimborn, M.; Neitzel, H.: Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly. Cell Cycle 10 (17), pp. 2967 - 77 (2011)

Ott, C. E.; Grunhagen, J.; Jager, M.; Horbelt, D.; Schwill, S.; Kallenbach, K.; Guo, G.; Manke, T.; Knaus, P.; Mundlos, S. et al.; Robinson, P. N.: MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3' UTR and coding-sequence binding sites. PLoS ONE 6 (1), p. e16250 (2011)

Robinson, P. N.; Krawitz, P.; Mundlos, S.: Strategies for exome and genome sequence data analysis in disease-gene discovery projects. Clin Genet 80 (2), pp. 127 - 32 (2011)

Rump, P.; Jongbloed, J. D.; Sikkema-Raddatz, B.; Mundlos, S.; Klopocki, E.; van der Luijt, R. B.: Madelung deformity in a girl with a novel and de novo mutation in the GNAS gene. Am J Med Genet A 155A (10), pp. 2566 - 70 (2011)

Spielmann, M.; Reichelt, G.; Hertzberg, C.; Trimborn, M.; Mundlos, S.; Horn, D.; Klopocki, E.: Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings. Eur J Med Genet 54 (4), pp. e441 - 5 (2011)

Stricker, S.; Mathia, S.; Haupt, J.; Seemann, P.; Meier, J.; Mundlos, S.: Odd-Skipped Related Genes Regulate Differentiation of Embryonic Limb Mesenchyme and Bone Marrow Mesenchymal Stromal Cells. Stem Cells Dev (2011)

Stricker, S.; Mundlos, S.: FGF and ROR2 receptor tyrosine kinase signaling in human skeletal development. Curr Top Dev Biol 97, pp. 179 - 206 (2011)