Max Planck Institute for Molecular Genetics

Publications

The following publications were published exclusively under the affiliation of the Max Planck Society. For publications by the principal investigator outside of the Max Planck Society, see the links on the lower left.

Journal Article (51)

Journal Article

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)

MPG.PuRe

Journal Article

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)

MPG.PuRe

Journal Article

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)

MPG.PuRe

Journal Article

Bauer, S.; Robinson, P. N.; Gagneur, J.: Model-based gene set analysis for Bioconductor. Bioinformatics 27 (13), pp. 1882 - 3 (2011)

MPG.PuRe

Journal Article

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)

MPG.PuRe

Journal Article

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)

MPG.PuRe

Journal Article

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)

MPG.PuRe

Journal Article

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)

MPG.PuRe

Journal Article

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)

MPG.PuRe

Journal Article

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)

MPG.PuRe

Journal Article

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)

MPG.PuRe

Journal Article

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)

MPG.PuRe

Journal Article

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)

MPG.PuRe

Journal Article

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)

MPG.PuRe

Journal Article

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)

MPG.PuRe

Journal Article

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)

MPG.PuRe

Journal Article

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)

MPG.PuRe

Journal Article

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)

MPG.PuRe

Journal Article

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)

MPG.PuRe

Journal Article

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)

MPG.PuRe