Busche, A.; Klopocki, E.; Ullmann, R.; Mundlos, S.; Horn, D.: A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures. European Journal of Medical Genetics 51 (6), pp. 615 - 621 (2008)

Steichen-Gersdorf, E.; Gaßner, I. ..; Superti-Furga, A. ..; Ullmann, R.; Stricker, S.; Klopocki, E. ..; Mundlos, S.: Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4. Clinical Genetics 74 (6), pp. 560 - 565 (2008)

Steichen-Gersdorf, E.; Gaßner, I. ..; Superti-Furga, A. ..; Ullmann, R.; Stricker, S.; Klopocki, E. ..; Mundlos, S.: Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4. Clinical Genetics 74 (6), pp. 560 - 565 (2008)

Tzschach, A.; Tinschert, S.; Kaminsky, E.; Lusga, E.; Mundlos, S.; Graul-Neumann, L. M.: Czech dysplasia: report of a large family and further delineation of the phenotype. American Journal of Medical Genetics Part A 146A (14), pp. 1859 - 1864 (2008)

Tzschach, A.; Tinschert, S.; Kaminsky, E.; Lusga, E.; Mundlos, S.; Graul-Neumann, L. M.: Czech dysplasia: report of a large family and further delineation of the phenotype. American Journal of Medical Genetics Part A 146A (14), pp. 1859 - 1864 (2008)

Rajab, A.; Kornak, U.; Budde, B. S.; Hoffmann, K.; Jaeken, J.; Nürnberg, P.; Mundlos, S.: Geroderma osteodysplasticum and wrinkly skin syndrome in 22 patients from Oman. American Journal of Medical Genetics Part A 146A (8), pp. 965 - 976 (2008)

Humphrey, N.; Mundlos, S.; Türkmen, S.: Genes and quadrupedal locomotion in humans. Proceedings of the National Academy of Sciences of the United States of America 105 (21), p. E26 - E26 (2008)

Guo, G.; Bauer, S.; Hecht, J.; Schulz, M. H.; Busche, A.; Robinson, P. N.: A short ultraconserved sequence drives transcription from an alternate FBN1 promoter. The International Journal of Biochemistry & Cell Biology 40 (4), pp. 638 - 650 (2008)

Türkmen, S.; Hoffmann, K. ..; Demirhan, O.; Aruoba, D.; Humphrey, N.; Mundlos, S.: Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene. European Journal of Human Genetics 16, pp. 1070 - 1074 (2008)

Hecht, J.; Stricker, S.; Wiecha, U.; Stiege, A.; Panopoulou, G.; Podsiadlowski, L.; Poustka, A. J.; Dieterich, C.; Ehrich, S.; Suvorova, J. et al.; Mundlos, S.; Seitz, V.: Evolution of a core gene network for skeletogenesis in chordates. PLoS Genetics 4 (3), p. e1000025 - e1000025 (2008)

Raz, R.; Stricker, S.; Elizabetta Gazzerro, E.; Clor, J. L.; Witte, F.; Nistala, H.; Zabski, S.; Pereira, R. C.; Stadmeyer, L.; Wang, X. et al.; Gowen, L.; Sleeman, M. W.; Yancopoulos, G. D.; Canalis, E.; Mundlos, S.; Valenzuela, D. M. V.; Economides, A. N.: The mutation ROR2W749X, linked to human BDB, is a recessive mutation in the mouse, causing brachydactyly, mediating patterning of joints and modeling recessive Robinow syndrome. Development 135 (9), pp. 1713 - 1723 (2008)

Michalk1, A.; Stricker, S.; Becker, J.; Rupps, R.; Pantzar, T.; Miertus, J.; Botta, G.; Naretto, V. G.; Janetzki, C.; Yaqoob, N. et al.; Ott, C.-E.; Seelow, D.; Wieczorek, D.; Fiebig, B.; Wirth, B.; Hoopmann, M.; Walther, M.; Körber, F.; Blankenburg, M.; Mundlos, S.; Heller, R.; Hoffmann, K.: Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. The American Journal of Human Genetics, 82 (2), pp. 464 - 476 (2008)

Ratzka, A.; Kalus, I.; Moser, M.; Dierks, T.; Mundlos, S.; Vortkamp, A.: Redundant function of the heparan sulfate 6-O-endosulfatases Sulf1 and Sulf2 during skeletal development. Developmental Dynamics 237 (2), pp. 339 - 353 (2008)

Plöger, F.; Seemann, P.; Schmidt-von Kegler, M.; Lehmann, K.; Seidel, J.; Kjaer, K. W.; Pohl, J.; Mundlos, S.: Brachydactyly type A2 associated with a defect in proGDF5 processing. Human Molecular Genetics 17 (9), pp. 122 - 133 (2008)

Klopocki, E.; Ott, C.-E.; Benatar, N.; Ullmann, R.; Mundlos, S.; Lehmann, K.: A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome. Journal of Medical Gentics 45 (6), pp. 370 - 375 (2008)

Klopocki, E.; Ott, C.-E.; Benatar, N.; Ullmann, R.; Mundlos, S.; Lehmann, K.: A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome. Journal of Medical Gentics 45 (6), pp. 370 - 375 (2008)

Klopocki, E.; Ott, C.-E.; Benatar, N.; Ullmann, R.; Mundlos, S.; Lehmann, K.: A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome. Journal of Medical Gentics 45 (6), pp. 370 - 375 (2008)

Kornak, U.; Reynders, E.; Dimopoulou, A.; van Reeuwijk, J.; Fischer, B.; Rajab, A.; Budde, B.; Nürnberg, P.; Foulquier, F.; Lefeber, D. et al.; Urban, Z.; Gruenewald, S.; Annaert, W.; Brunner, H. G.; van Bokhoven, H.; Wevers, R.; Morava, E.; Matthijs, G.; Van Maldergem, L.; Mundlos, S.: Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nature Genetics 40 (1), pp. 32 - 34 (2008)

Raile, K.; Klopocki, E.; Wessel, T.; Deiss, D.; Horn, D.; Müller, D.; Ullmann, R.; Grüters, A.: HNF1B Abnormality (Mature-Onset Diabetes of the Young 5) in Children and Adolescents: High prevalence in autoantibody-negative type 1 diabetes with kidney defects. Diabetes Care 31, p. e83 - e83 (2008)

Schulz, M. H.; Bauer, S.; Robinson, P. N.: The generalised k-Truncated Suffix Tree for time- and space-efficient searches in multiple DNA or protein sequences. International Journal of Bioinformatics Research and Applications: Ijbra 4 (1), pp. 81 - 95 (2008)