Publications

Franke, M.; Ibrahim, D.; Andrey, G.; Schwarzer, W.; Heinrich, V.; Schöpflin, R.; Kraft, K.; Kempfer, R.; Jerković, I.; Chan, W.-L. et al.; Spielmann, M.; Timmermann, B.; Wittler, L.; Kurth, I.; Cambiaso, P.; Zuffardi, O.; Houge, G.; Lambie, L.; Brancati, F.; Pombo, A.; Vingron, M.; Spitz, F.; Mundlos, S.: Formation of novel chromatin domains determines pathogenicity of genomic duplications. Nature 538 (7624), pp. 265 - 269 (2016)

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)

Knierim, E.; Hirata, H.; Wolf, N. I.; Morales-Gonzalez, S.; Schottmann, G.; Tanaka, Y.; Rudnik-Schöneborn, S.; Orgeur, M.; Zerres, K.; Vogt, S. et al.; van Riesen, A.; Gill, E.; Seifert, F.; Zwirner, A.; Kirschner, J.; Goebel, H. H.; Hübner, C.; Stricker, S.; Meierhofer, D.; Stenzel, W.; Schuelke, M.: Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures. The American Journal of Human Genetics 98, pp. 1 - 17 (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)

Kalscheuer, V. M.; James, V. M.; Himelright, M. L.; Long, P.; Oegema, R.; Jensen, C.; Bienek, M.; Hu, H.; Haas, S. A.; Topf, M. et al.; Hoogeboom, A. J.; Harvey, K.; Walikonis, R.; Harvey, R. J.: Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. Frontiers in Molecular Neuroscience 8, 8:85 (2016)

Palmer, E. E.; Leffler, M.; Rogers, C.; Shaw, M.; Carroll, R.; Earl, J.; Cheung, N. W.; Champion, B.; Hu, H.; Haas, S. A. et al.; Kalscheuer, V. M.; Gecz, J.; Field, M.: New insights into Brunner syndrome and potential for targeted therapy. Clinical Genetics: an international journal of genetics in medicine 89 (1), pp. 120 - 127 (2016)

Williams, L. S.; Kim, H. G.; Kalscheuer, V. M.; Tuck, J. M.; Chorich, L. P.; Sullivan, M. E.; Falkenstrom, A.; Reindollar, R. H.; Layman, L. C.: A balanced chromosomal translocation involving chromosomes 3 and 16 in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome reveals new candidate genes at 3p22.3 and 16p13.3. Molecular Cytogenetics 9, 9:57 (2016)

Ibrahim, D.; Lupiáñez, D. G.: LilBUBome - Why would you crowdfund a cute cat? Open Science Days 2016, Berlin (2016)