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 (17)

Journal Article

O'Rawe, J. A.; Wu, Y.; Dorfel, M. J.; Rope, A. F.; Au, P. Y.; Parboosingh, J. S.; Moon, S.; Kousi, M.; Kosma, K.; Smith, C. S. et al.; Tzetis, M.; Schuette, J. L.; Hufnagel, R. B.; Prada, C. E.; Martinez, F.; Orellana, C.; Crain, J.; Caro-Llopis, A.; Oltra, S.; Monfort, S.; Jimenez-Barron, L. T.; Swensen, J.; Ellingwood, S.; Smith, R.; Fang, H.; Ospina, S.; Stegmann, S.; Den Hollander, N.; Mittelman, D.; Highnam, G.; Robison, R.; Yang, E.; Faivre, L.; Roubertie, A.; Riviere, J. B.; Monaghan, K. G.; Wang, K.; Davis, E. E.; Katsanis, N.; Kalscheuer, V. M.; Wang, E. H.; Metcalfe, K.; Kleefstra, T.; Innes, A. M.; Kitsiou-Tzeli, S.; Rosello, M.; Keegan, C. E.; Lyon, G. J.: TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations. The American Journal of Human Genetics 97 (6), pp. 922 - 932 (2015)

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Journal Article

Guy, M. P.; Shaw, M.; Weiner, C. L.; Hobson, L.; Stark, Z.; Rose, K.; Kalscheuer, V. M.; Gecz, J.; Phizicky, E. M.: Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1. Human Mutation 36 (12), pp. 1176 - 1187 (2015)

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Journal Article

Adegbola, A.; Musante, L.; Callewaert, B.; Maciel, P.; Hu, H.; Isidor, B.; Picker-Minh, S.; Le Caignec, C.; Delle Chiaie, B.; Vanakker, O. et al.; Menten, B.; Dheedene, A.; Bockaert, N.; Roelens, F.; Decaestecker, K.; Silva, J.; Soares, G.; Lopes, F.; Najmabadi, H.; Kahrizi, K.; Cox, G. F.; Angus, S. P.; Staropoli, J. F.; Fischer, U.; Suckow, V.; Bartsch, O.; Chess, A.; Ropers, H. H.; Wienker, T. F.; Hübner, C.; Kaindl, A. M.; Kalscheuer, V. M.: Redefining the MED13L syndrome. European journal of human genetics 23 (10), pp. 1308 - 1317 (2015)

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Journal Article

Egerer, J.; Emmerich, D.; Fischer-Zirnsak, B.; Chan, W. L.; Meierhofer, D.; Tuysuz, B.; Marschner, K.; Sauer, S.; Barr, F. A.; Mundlos, S. et al.; Kornak, U.: GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting. The Journal of Investigative Dermatology: an International Journal for Research in Cutaneous Biology 135 (10), pp. 2368 - 2376 (2015)

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Journal Article

Fischer-Zirnsak, B.; Escande-Beillard, N.; Ganesh, J.; Tan, Y. X.; Bughaili, M. A.; Lin, A. E.; Sahai, I.; Bahena, P.; Reichert, S. L.; Loh, A. et al.; Wright, G. D.; Liu, J.; Rahikkala, E.; Pivnick, E. K.; Choudhri, A. F.; Krüger, U.; Zemojtel, T.; van Ravenswaaij-Arts, C.; Mostafavi, R.; Stolte-Dijkstra, I.; Symoens, S.; Pajunen, L.; Al-Gazali, L.; Meierhofer, D.; Robinson, P. N.; Mundlos, S.; Villarroel, C. E.: Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. The American Journal of Human Genetics 97 (3), pp. 483 - 492 (2015)

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Journal Article

Flöttmann, R.; Knaus, A.; Zemojtel, T.; Robinson, P. N.; Mundlos, S.; Horn, D.; Spielmann, M.: FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies. European Journal of Medical Genetics 58 (8), pp. 376 - 380 (2015)

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Journal Article

Lelieveld, S. H.; Spielmann, M.; Mundlos, S.; Veltman, J. A.; Gilissen, C.: Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions. Human Mutations 36 (8), pp. 815 - 822 (2015)

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Journal Article

Stange, K.; Ott, C. E.; Schmidt-von Kegler, M.; Gillesen-Kaesbach, G.; Mundlos, S.; Dathe, K.; Seemann, P.: Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations? JOURNAL OF HUMAN GENETICS 60 (8), pp. 419 - 425 (2015)

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Journal Article

Flöttmann, R.; Wagner, J.; Kobus, K.; Curry, C. J.; Savarirayan, R.; Nishimura, G.; Yasui, N.; Spranger, J.; Van Esch, H.; Lyons, M. J. et al.; DuPont, B. R.; Dwivedi, A.; Klopocki, E.; Horn, D.; Mundlos, S.; Spielmann, M.: Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type. Journal of Medical Genetics 52 (7), pp. 476 - 483 (2015)

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Journal Article

Emmerich, D.; Zemojtel, T.; Hecht, J.; Krawitz, P.; Spielmann, M.; Kühnisch, J.; Kobus, K.; Oßwald, M.; Heinrich, V.; Berlien, P. et al.; Müller, U.; Mautner, V.-F.; Wimmer, K.; Robinson, P. N.; Vingron, M.; Tinschert, S.; Mundlos, S.; Kolanczyk, M.: Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient. European journal of human genetics 23 (6), pp. 1870 - 1873 (2015)

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Journal Article

Maass, P. G.; Aydin, A.; Luft, F. C.; Schachterle, C.; Weise, A.; Stricker, S.; Lindschau, C.; Vaegler, M.; Qadri, F.; Toka, H. R. et al.; Schulz, H.; Krawitz, P. M.; Parkhomchuk, D.; Hecht, J.; Hollfinger, I.; Wefeld-Neuenfeld, Y.; Bartels-Klein, E.; Muhl, A.; Kann, M.; Schuster, H.; Chitayat, D.; Bialer, M. G.; Wienker, T. F.; Ott, J.; Rittscher, K.; Liehr, T.; Jordan, J.; Plessis, G.; Tank, J.; Mai, K.; Naraghi, R.; Hodge, R.; Hopp, M.; Hattenbach, L. O.; Busjahn, A.; Rauch, A.; Vandeput, F.; Gong, M.; Ruschendorf, F.; Hübner, N.; Haller, H.; Mundlos, S.; Bilginturan, N.; Movsesian, M. A.; Klussmann, E.; Toka, O.; Bahring, S.: PDE3A mutations cause autosomal dominant hypertension with brachydactyly. Nature Genetics 47 (6), pp. 647 - 653 (2015)

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Journal Article

Sukalo, M.; Tilsen, F.; Kayserili, H.; Muller, D.; Tuysuz, B.; Ruddy, D. M.; Wakeling, E.; Orstavik, K. H.; Snape, K. M.; Trembath, R. et al.; De Smedt, M.; van der Aa, N.; Skalej, M.; Mundlos, S.; Wuyts, W.; Southgate, L.; Zenker, M.: DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies. Human Mutations 36 (6), pp. 593 - 598 (2015)

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Journal Article

Lupiáñez, D. G.; Kraft, K.; Heinrich, V.; Krawitz, P.; Brancati, F.; Klopocki, E.; Horn, D.; Kayserili, H.; Opitz, J. M.; Laxova, R. et al.; Santos-Simarro, F.; Gilbert-Dussardier, B.; Wittler, L.; Borschiwer, M.; Haas, S. A.; Osterwalder, M.; Franke, M.; Timmermann, B.; Hecht, J.; Spielmann, M.; Visel, A.; Mundlos, S.: Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions. Cell 161 (5), pp. 1012 - 1025 (2015)

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Journal Article

Degenkolbe, E.; Schwarz, C.; Ott, C. E.; Konig, J.; Schmidt-Bleek, K.; Ellinghaus, A.; Schmidt, T.; Lienau, J.; Ploger, F.; Mundlos, S. et al.; Duda, G. N.; Willie, B. M.; Seemann, P.: Improved bone defect healing by a superagonistic GDF5 variant derived from a patient with multiple synostoses syndrome. Bone 73, pp. 111 - 119 (2015)

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Journal Article

Kobus, K.; Hartl, D.; Ott, C. E.; Osswald, M.; Huebner, A.; von der Hagen, M.; Emmerich, D.; Kühnisch, J.; Morreau, H.; Hes, F. J. et al.; Mautner, V. F.; Harder, A.; Tinschert, S.; Mundlos, S.; Kolanczyk, M.: Double NF1 inactivation affects adrenocortical function in NF1Prx1 mice and a human patient. PLoS One 10 (3), e0119030 (2015)

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Journal Article

Kraft, K.; Geuer, S.; Will, A. J.; Chan, W. L.; Paliou, C.; Borschiwer, M.; Harabula, I.; Wittler, L.; Franke, M.; Ibrahim, D. et al.; Kragesteen, B. K.; Spielmann, M.; Mundlos, S.; Lupianez, D. G.; Andrey, G.: Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice. Cell Reports 10 (5), pp. 833 - 839 (2015)

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Journal Article

Kolanczyk, M.; Krawitz, P.; Hecht, J.; Hupalowska, A.; Miaczynska, M.; Marschner, K.; Schlack, C.; Emerich, D.; Kobus, K.; Kornak, U. et al.; Robinson, P. N.; Plecko, B.; Grangl, G.; Uhrig, S.; Mundlos, S.; Horn, D.: Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. European journal of human genetics 23, 720 (2015)

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Conference Paper (1)

Conference Paper

Schöpflin, R.; Andrey, G.; Heinrich, V.; Franke, M.; Ibrahim, D.; Paliou, C.; Mundlos, S.; Vingron, M.: Identification of potential regulatory elements in Capture-C interaction profiles. In: Genome Regulation in 3D. Genome Regulation in 3D, Rehovot, Israel, June 28, 2015 - June 30, 2015. Weizmann Institute, Rehovot, Israel (2015)

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Thesis (2)

Thesis

Viebig, J.: Sequenzierung des LoxP flankierten Exon 6 des Gens Piga im Mausmodell. Humboldt Universität zu Berlin, (2015)

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Thesis

Wiegmann Rollet, R.: Analyse von Mutationen monogener Erkrankungen bezüglich evolutionärer Konservierung und Transkriptionsfaktorbindungsstellen. Freie Universität Berlin (2015)

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