Publications of S. Mundlos

Krawitz, P. M.; Murakami, Y.; Hecht, J.; Kruger, U.; Holder, S. E.; Mortier, G. R.; Delle Chiaie, B.; De Baere, E.; Thompson, M. D.; Roscioli, T. et al.; Kielbasa, S. M.; Kinoshita, T.; Mundlos, S.; Robinson, P. N.; Horn, D.: Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. American Journal of Human Genetics 91 (1), pp. 146 - 151 (2012)

Ott, C. E.; Hein, H.; Lohan, S.; Hoogeboom, J.; Foulds, N.; Grunhagen, J.; Stricker, S.; Villavicencio-Lorini, P.; Klopocki, E.; Mundlos, S.: Microduplications upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasia. Journal of Medical Genetics (London) 49 (7), pp. 437 - 441 (2012)

Rosenfeld, J. A.; Traylor, R. N.; Schaefer, G. B.; McPherson, E. W.; Ballif, B. C.; Klopocki, E.; Mundlos, S.; Shaffer, L. G.; Aylsworth, A. S.: Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes. European journal og human genetics: EJHG ; the official journal of the European Society of Human Genetics 20 (7), pp. 754 - 761 (2012)

Klopocki, E.; Kaehler, C.; Foulds, N.; Shah, H.; Joseph, B.; Vogel, H.; Luttgen, S.; Bald, R.; Besoke, R.; Held, K. et al.; Mundlos, S.; Kurth, I.: Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly. European journal og human genetics: EJHG ; the official journal of the European Society of Human Genetics 20 (6), pp. 705 - 708 (2012)

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 Research (London) 40 (6), pp. 2426 - 2431 (2012)

Murakami, Y.; Kanzawa, N.; Saito, K.; Krawitz, P. M.; Mundlos, S.; Robinson, P. N.; Karadimitris, A.; Maeda, Y.; Kinoshita, T.: Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome. The Journal of Biological Chemistry 287 (9), pp. 6318 - 6325 (2012)

Klopocki, E.; Lohan, S.; Doelken, S. C.; Stricker, S.; Ockeloen, C. W.; Soares Thiele de Aguiar, R.; Lezirovitz, K.; Netto, M.; Jamsheer, A.; Shah, H. et al.; Kurth, I.; Habenicht, R.; Warman, M.; Devriendt, K.; Kordass, U.; Hempel, M.; Rajab, A.; Makitie, O.; Naveed, M.; Radhakrishna, U.; Antonarakis, S. E.; Horn, D.; Mundlos, S.: Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. Journal of Medical Genetics (London) 49 (2), pp. 119 - 125 (2012)

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 and Development 21 (4), pp. 623 - 633 (2012)

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. American Journal of Human Genetics 88 (1), pp. 70 - 75 (2011)

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)