Publications of S. Mundlos

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)

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)

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)

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)

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)

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)

Ehmke, N.; Caliebe, A.; Koenig, R.; Kant, S. G.; Stark, Z.; Cormier-Daire, V.; Wieczorek, D.; Gillessen-Kaesbach, G.; Hoff, K.; Kawalia, A. et al.; Thiele, H.; Altmuller, J.; Fischer-Zirnsak, B.; Knaus, A.; Zhu, N.; Heinrich, V.; Huber, C.; Harabula, I.; Spielmann, M.; Horn, D.; Kornak, U.; Hecht, J.; Krawitz, P. M.; Nurnberg, P.; Siebert, R.; Manzke, H.; Mundlos, S.: Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome. The American Journal of Human Genetics 95 (6), pp. 763 - 770 (2014)

Ehmke, N.; Parvaneh, N.; Krawitz, P.; Ashrafi, M. R.; Karimi, P.; Mehdizadeh, M.; Kruger, U.; Hecht, J.; Mundlos, S.; Robinson, P. N.: First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature. American Journal of Medical Genetics Part A 164A (12), pp. 3170 - 3175 (2014)

Lohan, S.; Spielmann, M.; Doelken, S. C.; Flottmann, R.; Muhammad, F.; Baig, S. M.; Wajid, M.; Hulsemann, W.; Habenicht, R.; Kjaer, K. W. et al.; Patil, S. J.; Girisha, K. M.; Abarca-Barriga, H. H.; Mundlos, S.; Klopocki, E.: Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome. Clinical Genetics: an international journal of genetics in medicine 86 (4), pp. 318 - 325 (2014)

Stange, K.; Thieme, T.; Hertel, K.; Kuhfahl, S.; Janecke, A. R.; Piza-Katzer, H.; Penttinen, M.; Hietala, M.; Dathe, K.; Mundlos, S. et al.; Schwarz, E.; Seemann, P.: Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C. Journal of Molecular Biology 426 (19), pp. 3221 - 3231 (2014)

Ibn-Salem, J.; Köhler, S.; Love, M. I.; Chung, H.-R.; Huang, N.; Hurles, M. E.; Haendel, M.; Washington, N. L.; Smedley, D.; Mungall, C. J. et al.; Lewis, S. E.; Ott, C. E.; Bauer, S.; Schofield, P. N.; Mundlos, S.; Spielmann, M.; Robinson, P. N.: Deletions of chromosomal regulatory boundaries are associated with congenital disease. Genome Biology: Biology for the Post-Genomic Era 15, 15:423 (2014)

Zemojtel, T.; Köhler, S.; Mackenroth, L.; Jäger, M.; Hecht, J.; Krawitz, P.; Graul-Neumann, L.; Doelken, S.; Ehmke, N.; Spielmann, M. et al.; Oien, N. C.; Schweiger, M. R.; Krüger, U.; Frommer, G.; Fischer, B.; Kornak, U.; Flöttmann, R.; Ardeshirdavani, A.; Moreau, Y.; Lewis, S. E.; Haendel, M.; Smedley, D.; Horn, D.; Mundlos, S.; Robinson, P. N.: Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome. Science Translational Madicine 6 (252), 252ra123 (2014)

Krawitz, P. M.; Schiska, D.; Krüger, U.; Appelt, S.; Heinrich, V.; Parkhomchuk, D.; Timmermann, B.; Millan, J. M.; Robinson, P. N.; Mundlos, S. et al.; Hecht, J.; Gross, M.: Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome. Molecular Genetics and Genomic Medicine 2 (5), pp. 393 - 401 (2014)

Kühnisch, J.; Seto, J.; Lange, C.; Stumpp, S.; Kobus, K.; Grohmann, J.; Elefteriou, F.; Fratzl, P.; Mundlos, S.; Kolanczyk, M.: Neurofibromin inactivation impairs osteocyte development in Nf1Prx1 and Nf1Col1 mouse models. Bone 66, pp. 155 - 162 (2014)

Fischer, B.; Callewaert, B.; Schroter, P.; Coucke, P. J.; Schlack, C.; Ott, C. E.; Morroni, M.; Homann, W.; Mundlos, S.; Morava, E. et al.; Ficcadenti, A.; Kornak, U.: Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1. Molecular Genetics and Metabolism 112 (4), pp. 310 - 316 (2014)

Tayebi, N.; Jamsheer, A.; Flöttmann, R.; Sowinska-Seidler, A.; Doelken, S. C.; Oehl-Jaschkowitz, B.; Hülsemann, W.; Habenicht, R.; Klopocki, E.; Mundlos, S. et al.; Spielmann, M.: Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families. Orphanet Journal of Rare Diseases 2014, 9:108 (2014)

Girisha, K. M.; Bidchol, A. M.; Kamath, P. S.; Shah, K. H.; Mortier, G. R.; Mundlos, S.; Shah, H.: A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia. American Journal of Medical Genetics Part A 164A (4), pp. 898 - 906 (2014)

Jamsheer, A.; Smigiel, R.; Jakubiak, A.; Zemojtel, T.; Socha, M.; Robinson, P. N.; Mundlos, S.: Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5. Birth Defects Research Part A: Clinical and Molecular Teratology 100 (4), pp. 314 - 318 (2014)

Kornak, U.; Mademan, I.; Schinke, M.; Voigt, M.; Krawitz, P.; Hecht, J.; Barvencik, F.; Schinke, T.; Giesselmann, S.; Beil, F. T. et al.; Pou-Serradell, A.; Vilchez, J. J.; Beetz, C.; Deconinck, T.; Timmerman, V.; Kaether, C.; De Jonghe, P.; Hubner, C. A.; Gal, A.; Amling, M.; Mundlos, S.; Baets, J.; Kurth, I.: Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3. Brain 137 (3), pp. 683 - 692 (2014)