Publications of S. Mundlos

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)

Howard, M. F.; Murakami, Y.; Pagnamenta, A. T.; Daumer-Haas, C.; Fischer, B.; Hecht, J.; Keays, D. A.; Knight, S. J.; Kolsch, U.; Kruger, U. et al.; Leiz, S.; Maeda, Y.; Mitchell, D.; Mundlos, S.; Phillips, J. A.,. 3.; Robinson, P. N.; Kini, U.; Taylor, J. C.; Horn, D.; Kinoshita, T.; Krawitz, P. M.: Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation. The American Journal of Human Genetics 94 (2), pp. 278 - 287 (2014)

Kühnisch, J.; Seto, J.; Lange, C.; Schrof, S.; Stumpp, S.; Kobus, K.; Grohmann, J.; Kossler, N.; Varga, P.; Oßwald, M. et al.; Emmerich, D.; Tinschert, S.; Thielemann, F.; Duda, G.; Seifert, W.; El Khassawna, T.; Stevenson, D. A.; Elefteriou, F.; Kornak, U.; Raum, K.; Fratzl, P.; Mundlos, S.; Kolanczyk, M.: Multiscale, converging defects of macro-porosity, microstructure and matrix mineralization impact long bone fragility in NF1. PLoS One 9 (1), e86115 (2014)

Ibrahim, D.; Hansen, P.; Rödelsperger, C.; Stiege, A. C.; Doelken, S. C.; Horn, D.; Jäger, M.; Janetzki, C.; Krawitz, P.; Leschik, G. et al.; Wagner, F.; Scheuer, T.; Schmidt-von Kegler, M.; Seemann, P.; Timmermann, B.; Robinson, P. N.; Mundlos, S.; Hecht, J.: Distinct global shifts in genomic binding profiles of limb malformation associated HOXD13 mutations. Genome Research 23 (12), pp. 2091 - 2102 (2013)

Arelin, M.; Schulze, B.; Muller-Myhsok, B.; Horn, D.; Diers, A.; Uhlenberg, B.; Nurnberg, P.; Nurnberg, G.; Becker, C.; Mundlos, S. et al.; Lindner, T. H.; Sperling, K.; Hoffmann, K.: Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects. European journal og human genetics: EJHG ; the official journal of the European Society of Human Genetics 21 (4), pp. 367 - 372 (2013)

Kalsoom, U. E.; Klopocki, E.; Wasif, N.; Tariq, M.; Khan, S.; Hecht, J.; Krawitz, P.; Mundlos, S.; Ahmad, W.: Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A. Journal of Medical Genetics 50 (1), pp. 47 - 53 (2013)

Haghighi, A.; Nikuei, P.; Haghighi-Kakhki, H.; N, H. S.-G.; Baghestani, S.; Krawitz, P. M.; Hecht, J.; Mundlos, S.: Identification of a Novel Missense Mutation in EDAR Causing Autosomal Recessive Hypohidrotic Ectodermal Dysplasia with Bilateral Amastia and Palmoplantar Hyperkeratosis. British Journal of Dermatology 2012, p. e - e (2012)

Villavicencio-Lorini, P.; Klopocki, E.; Trimborn, M.; Koll, R.; Mundlos, S.; Horn, D.: Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4. European journal og human genetics: EJHG ; the official journal of the European Society of Human Genetics 2012, p. e - e (2012)

Fischer, B.; Dimopoulou, A.; Egerer, J.; Gardeitchik, T.; Kidd, A.; Jost, D.; Kayserili, H.; Alanay, Y.; Tantcheva-Poor, I.; Mangold, E. et al.; Daumer-Haas, C.; Phadke, S.; Peirano, R. I.; Heusel, J.; Desphande, C.; Gupta, N.; Nanda, A.; Felix, E.; Berry-Kravis, E.; Kabra, M.; Wevers, R. A.; van Maldergem, L.; Mundlos, S.; Morava, E.; Kornak, U.: Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Human Genetics 131 (11), pp. 1761 - 1773 (2012)

El Khassawna, T.; Toben, D.; Kolanczyk, M.; Schmidt-Bleek, K.; Koennecke, I.; Schell, H.; Mundlos, S.; Duda, G. N.: Deterioration of fracture healing in the mouse model of NF1 long bone dysplasia. Bone 51 (4), pp. 651 - 660 (2012)

Spielmann, M.; Brancati, F.; Krawitz, P. M.; Robinson, P. N.; Ibrahim, D. M.; Franke, M.; Hecht, J.; Lohan, S.; Dathe, K.; Nardone, A. M. et al.; Ferrari, P.; Landi, A.; Wittler, L.; Timmermann, B.; Chan, D.; Mennen, U.; Klopocki, E.; Mundlos, S.: Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus. American Journal of Human Genetics 91 (4), pp. 629 - 635 (2012)

Krawitz, P. M.; Murakami, Y.; Hecht, J.; Kruger, U.; Holder, S. E.; Mortier, G. R.; Delle Chiaie, B.; De Baere, E.; Thompson, M. D.; Roscioli, T. et al.; Kielbasa, S. M.; Kinoshita, T.; Mundlos, S.; Robinson, P. N.; Horn, D.: Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. American Journal of Human Genetics 91 (1), pp. 146 - 151 (2012)