Publications

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)

Aydin, A.; Mortensen, K.; Rybczynski, M.; Sheikhzadeh, S.; Willmann, S.; Bernhardt, A. M.; Hillebrand, M.; Stritzke, J.; Baulmann, J.; Schunkert, H. et al.; Keil, U.; Hense, H. W.; Meisinger, C.; Robinson, P. N.; Berger, J.; Willems, S.; Meinertz, T.; von Kodolitsch, Y.: Central pulse pressure and augmentation index in asymptomatic bicuspid aortic valve disease. Int J Cardiol 147 (3), pp. 466 - 8 (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)

Bauer, S.; Robinson, P. N.; Gagneur, J.: Model-based gene set analysis for Bioconductor. Bioinformatics 27 (13), pp. 1882 - 3 (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)

Busche, A.; Graul-Neumann, L. M.; Zweier, C.; Rauch, A.; Klopocki, E.; Horn, D.: Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature. Eur J Med Genet 54 (3), pp. 256 - 61 (2011)

Dharmadasa, A.; Dean, M.; Lucas, D. N.; Rao, K.; Robinson, P. N.: SAFE handovers in obstetric anaesthesia. Int J Obstet Anesth 20 (2), p. 192 (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)

Gregor, A.; Albrecht, B.; Bader, I.; Bijlsma, E. K.; Ekici, A. B.; Engels, H.; Hackmann, K.; Horn, D.; Hoyer, J.; Klapecki, J. et al.; Kohlhase, J.; Maystadt, I.; Nagl, S.; Prott, E.; Tinschert, S.; Ullmann, R.; Wohlleber, E.; Woods, G.; Reis, A.; Rauch, A.; Zweier, C.: Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. BMC Med Genet 12, p. 106 (2011)

Guo, G.; Gehle, P.; Doelken, S.; Martin-Ventura, J. L.; von Kodolitsch, Y.; Hetzer, R.; Robinson, P. N.: Induction of macrophage chemotaxis by aortic extracts from patients with Marfan syndrome is related to elastin binding protein. PLoS ONE 6 (5), p. e20138 (2011)

Hagen, A.; Bigl, A.; Wand, D.; Klopocki, E.; Heller, R.; Siekmeyer, M.; Siekmeyer, W.; Kiess, W.; Merkenschlager, A.: Combined partial trisomy 11q and partial monosomy 10p in a 19-year-old female patient: phenotypic and genotypic findings. Am J Med Genet A 155A (12), pp. 3075 - 81 (2011)

Haworth, A.; Bertram, L.; Carrera, P.; Elson, J. L.; Braastad, C. D.; Cox, D. W.; Cruts, M.; den Dunnen, J. T.; Farrer, M. J.; Fink, J. K. et al.; Hamed, S. A.; Houlden, H.; Johnson, D. R.; Nuytemans, K.; Palau, F.; Rayan, D. L.; Robinson, P. N.; Salas, A.; Schule, B.; Sweeney, M. G.; Woods, M. O.; Amigo, J.; Cotton, R. G.; Sobrido, M. J.: Call for participation in the neurogenetics consortium within the Human Variome Project. Neurogenetics 12 (3), pp. 169 - 73 (2011)

Haworth, A.; Bertram, L.; Carrera, P.; Elson, J. L.; Braastad, C. D.; Cox, D. W.; Cruts, M.; den Dunnen, J. T.; Farrer, M. J.; Fink, J. K. et al.; Hamed, S. A.; Houlden, H.; Johnson, D. R.; Nuytemans, K.; Palau, F.; Rayan, D. L.; Robinson, P. N.; Salas, A.; Schule, B.; Sweeney, M. G.; Woods, M. O.; Amigo, J.; Cotton, R. G.; Sobrido, M. J.: Call for participation in the neurogenetics consortium within the Human Variome Project. Neurogenetics 12 (3), pp. 169 - 73 (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)

Horn, D.; Robinson, P. N.: Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene. Am J Med Genet A 155A (4), pp. 721 - 4 (2011)

Huang, J.; Mirel, D.; Pugh, E.; Xing, C.; Robinson, P. N.; Pertsemlidis, A.; Ding, L.; Kozlitina, J.; Maher, J.; Rios, J. et al.; Story, M.; Marthandan, N.; Scheuermann, R. H.: Minimum Information about a Genotyping Experiment (MIGEN). Stand Genomic Sci 5 (2), pp. 224 - 9 (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)