Publications

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)

Ott, C. E.; Hein, H.; Lohan, S.; Hoogeboom, J.; Foulds, N.; Grunhagen, J.; Stricker, S.; Villavicencio-Lorini, P.; Klopocki, E.; Mundlos, S.: Microduplications upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasia. Journal of Medical Genetics (London) 49 (7), pp. 437 - 441 (2012)

Rosenfeld, J. A.; Traylor, R. N.; Schaefer, G. B.; McPherson, E. W.; Ballif, B. C.; Klopocki, E.; Mundlos, S.; Shaffer, L. G.; Aylsworth, A. S.: Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes. European journal og human genetics: EJHG ; the official journal of the European Society of Human Genetics 20 (7), pp. 754 - 761 (2012)

Klopocki, E.; Kaehler, C.; Foulds, N.; Shah, H.; Joseph, B.; Vogel, H.; Luttgen, S.; Bald, R.; Besoke, R.; Held, K. et al.; Mundlos, S.; Kurth, I.: Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly. European journal og human genetics: EJHG ; the official journal of the European Society of Human Genetics 20 (6), pp. 705 - 708 (2012)

Heinrich, V.; Stange, J.; Dickhaus, T.; Imkeller, P.; Kruger, U.; Bauer, S.; Mundlos, S.; Robinson, P. N.; Hecht, J.; Krawitz, P. M.: The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process. Nucleic Acids Research (London) 40 (6), pp. 2426 - 2431 (2012)

Murakami, Y.; Kanzawa, N.; Saito, K.; Krawitz, P. M.; Mundlos, S.; Robinson, P. N.; Karadimitris, A.; Maeda, Y.; Kinoshita, T.: Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome. The Journal of Biological Chemistry 287 (9), pp. 6318 - 6325 (2012)

Klopocki, E.; Lohan, S.; Doelken, S. C.; Stricker, S.; Ockeloen, C. W.; Soares Thiele de Aguiar, R.; Lezirovitz, K.; Netto, M.; Jamsheer, A.; Shah, H. et al.; Kurth, I.; Habenicht, R.; Warman, M.; Devriendt, K.; Kordass, U.; Hempel, M.; Rajab, A.; Makitie, O.; Naveed, M.; Radhakrishna, U.; Antonarakis, S. E.; Horn, D.; Mundlos, S.: Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. Journal of Medical Genetics (London) 49 (2), pp. 119 - 125 (2012)

Stricker, S.; Mathia, S.; Haupt, J.; Seemann, P.; Meier, J.; Mundlos, S.: Odd-skipped related genes regulate differentiation of embryonic limb mesenchyme and bone marrow mesenchymal stromal cells. Stem Cells and Development 21 (4), pp. 623 - 633 (2012)

Zimmer, J.: From Skeletal Diseases to Bone Regeneration: Analysis of Agonist-Antagonist Interactions for Design of tailored bone Morphogenetic Protein2 Variants with improved biological activity. Dissertation (2012)

Köhler, S.: Penotype informatics: Network approaches towards understanding the diseasome. Dissertation (2012)

Chan, W. L.: Molecular basis of Gerodermia Osteodysplastica, apremature ageing disorder. Dissertation (2012)

Brzezinka, K.: Potential downstream targets regulated by OSR I in the chicken connective tissue. Master (2012)

Fischer, R.: Untersuchung der Polydaktylie; Analyse der knock-in Mausmutante Hoxd13 +21 Alanin. Bachelor (2012)

Appelt, S.: Identification and validation of variant calls in a gene panel screen. Bachelor (2012)