Publications of S. Mundlos

Spielmann, M.; Mundlos, S.: Looking beyond the genes: the role of non-coding variants in human disease. Human Molecular Genetics 25 (R2), pp. R157 - R165 (2016)

Seifert, W.; Posor, Y.; Schu, P.; Stenbeck, G.; Mundlos, S.; Klaassen, S.; Nurnberg, P.; Haucke, V.; Kornak, U.; Kühnisch, J.: The progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface. Human Molecular Genetics 25 (17), pp. 3836 - 3848 (2016)

Heinrich, V.; Kamphans, T.; Mundlos, S.; Robinson, P. N.; Krawitz, P. M.: A likelihood ratio based method to predict exact pedigrees for complex families from next-generation sequencing data. Bioinformatics 2016, btw550 (2016)

Flöttmann, R.; Sowinska-Seidler, A.; Lavie, J.; Chateil, J. F.; Lacombe, D.; Mundlos, S.; Horn, D.; Spielmann, M.: Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia. European journal of human genetics 24 (8), pp. 1132 - 1136 (2016)

Knaus, A.; Awaya, T.; Helbig, I.; Afawi, Z.; Pendziwiat, M.; Abu-Rachma, J.; Thompson, M. D.; Cole, D. E.; Skinner, S.; Annese, F. et al.; Canham, N.; Schweiger, M. R.; Robinson, P. N.; Mundlos, S.; Kinoshita, T.; Munnich, A.; Murakami, Y.; Horn, D.; Krawitz, P. M.: Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome. Human Mutations 37 (8), pp. 737 - 744 (2016)

Spielmann, M.; Marx, S.; Barbi, G.; Flottmann, R.; Kehrer-Sawatzki, H.; Konig, R.; Horn, D.; Mundlos, S.; Nader, S.; Borck, G.: Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement. American Journal of Medical Genetics Part A 170A (5), pp. 1202 - 1207 (2016)

Lupiáñez, D. G.; Spielmann, M.; Mundlos, S.: Breaking TADs: How Alterations of Chromatin Domains Result in Disease. Trends in Genetics 32 (4), pp. 225 - 237 (2016)

Mackenroth, L.; Fischer-Zirnsak, B.; Egerer, J.; Hecht, J.; Kallinich, T.; Stenzel, W.; Spors, B.; von Moers, A.; Mundlos, S.; Kornak, U. et al.; Gerhold, K.; Horn, D.: An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing. American Journal of Medical Genetics Part A 170A (4), pp. 1080 - 1085 (2016)

Ibrahim, D.; Tayebi, N.; Knaus, A.; Stiege, A. C.; Sahebzamani, A.; Hecht, J.; Mundlos, S.; Spielmann, M.: A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation. American Journal of Medical Genetics Part A 170 (3), pp. 615 - 621 (2016)

Olech, E. M.; Zemojtel, T.; Sowinska-Seidler, A.; Mundlos, S.; Robinson, P. N.; Karczewski, M.; Jamsheer, A.: Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach. Polish Journal of Pathology 67 (1), pp. 78 - 83 (2016)

Spielmann, M.; Kakar, N.; Tayebi, N.; Leettola, C.; Nürnberg, G.; Sowada, N.; Lupiáñez, D. G.; Harabula, I.; Flöttmann, R.; Horn, D. et al.; Chan, W. L.; Wittler, L.; Yilmaz, R.; Altmüller, J.; Thiele, H.; van Bokhoven,, H.; Schwartz, C. E.; Nürnberg, P.; Bowie, J. U.; Ahmad, J.; Kubisch, C.; Mundlos, S.: Exome Sequencing and CRISPR/Cas Genome Editing Identify Mutations of ZAK as a Cause of Limb Defects in Humans and Mice. Genome Research 26 (2), pp. 183 - 191 (2016)

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)

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)

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)

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)

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)

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)

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)

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)

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)