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)

O'Rawe, J. A.; Wu, Y.; Dorfel, M. J.; Rope, A. F.; Au, P. Y.; Parboosingh, J. S.; Moon, S.; Kousi, M.; Kosma, K.; Smith, C. S. et al.; Tzetis, M.; Schuette, J. L.; Hufnagel, R. B.; Prada, C. E.; Martinez, F.; Orellana, C.; Crain, J.; Caro-Llopis, A.; Oltra, S.; Monfort, S.; Jimenez-Barron, L. T.; Swensen, J.; Ellingwood, S.; Smith, R.; Fang, H.; Ospina, S.; Stegmann, S.; Den Hollander, N.; Mittelman, D.; Highnam, G.; Robison, R.; Yang, E.; Faivre, L.; Roubertie, A.; Riviere, J. B.; Monaghan, K. G.; Wang, K.; Davis, E. E.; Katsanis, N.; Kalscheuer, V. M.; Wang, E. H.; Metcalfe, K.; Kleefstra, T.; Innes, A. M.; Kitsiou-Tzeli, S.; Rosello, M.; Keegan, C. E.; Lyon, G. J.: TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations. The American Journal of Human Genetics 97 (6), pp. 922 - 932 (2015)

Guy, M. P.; Shaw, M.; Weiner, C. L.; Hobson, L.; Stark, Z.; Rose, K.; Kalscheuer, V. M.; Gecz, J.; Phizicky, E. M.: Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1. Human Mutation 36 (12), pp. 1176 - 1187 (2015)

Adegbola, A.; Musante, L.; Callewaert, B.; Maciel, P.; Hu, H.; Isidor, B.; Picker-Minh, S.; Le Caignec, C.; Delle Chiaie, B.; Vanakker, O. et al.; Menten, B.; Dheedene, A.; Bockaert, N.; Roelens, F.; Decaestecker, K.; Silva, J.; Soares, G.; Lopes, F.; Najmabadi, H.; Kahrizi, K.; Cox, G. F.; Angus, S. P.; Staropoli, J. F.; Fischer, U.; Suckow, V.; Bartsch, O.; Chess, A.; Ropers, H. H.; Wienker, T. F.; Hübner, C.; Kaindl, A. M.; Kalscheuer, V. M.: Redefining the MED13L syndrome. European journal of human genetics 23 (10), pp. 1308 - 1317 (2015)

Egerer, J.; Emmerich, D.; Fischer-Zirnsak, B.; Chan, W. L.; Meierhofer, D.; Tuysuz, B.; Marschner, K.; Sauer, S.; Barr, F. A.; Mundlos, S. et al.; Kornak, U.: GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting. The Journal of Investigative Dermatology: an International Journal for Research in Cutaneous Biology 135 (10), pp. 2368 - 2376 (2015)

Fischer-Zirnsak, B.; Escande-Beillard, N.; Ganesh, J.; Tan, Y. X.; Bughaili, M. A.; Lin, A. E.; Sahai, I.; Bahena, P.; Reichert, S. L.; Loh, A. et al.; Wright, G. D.; Liu, J.; Rahikkala, E.; Pivnick, E. K.; Choudhri, A. F.; Krüger, U.; Zemojtel, T.; van Ravenswaaij-Arts, C.; Mostafavi, R.; Stolte-Dijkstra, I.; Symoens, S.; Pajunen, L.; Al-Gazali, L.; Meierhofer, D.; Robinson, P. N.; Mundlos, S.; Villarroel, C. E.: Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. The American Journal of Human Genetics 97 (3), pp. 483 - 492 (2015)

Flöttmann, R.; Knaus, A.; Zemojtel, T.; Robinson, P. N.; Mundlos, S.; Horn, D.; Spielmann, M.: FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies. European Journal of Medical Genetics 58 (8), pp. 376 - 380 (2015)

Lelieveld, S. H.; Spielmann, M.; Mundlos, S.; Veltman, J. A.; Gilissen, C.: Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions. Human Mutations 36 (8), pp. 815 - 822 (2015)

Stange, K.; Ott, C. E.; Schmidt-von Kegler, M.; Gillesen-Kaesbach, G.; Mundlos, S.; Dathe, K.; Seemann, P.: Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations? JOURNAL OF HUMAN GENETICS 60 (8), pp. 419 - 425 (2015)

Flöttmann, R.; Wagner, J.; Kobus, K.; Curry, C. J.; Savarirayan, R.; Nishimura, G.; Yasui, N.; Spranger, J.; Van Esch, H.; Lyons, M. J. et al.; DuPont, B. R.; Dwivedi, A.; Klopocki, E.; Horn, D.; Mundlos, S.; Spielmann, M.: Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type. Journal of Medical Genetics 52 (7), pp. 476 - 483 (2015)

Emmerich, D.; Zemojtel, T.; Hecht, J.; Krawitz, P.; Spielmann, M.; Kühnisch, J.; Kobus, K.; Oßwald, M.; Heinrich, V.; Berlien, P. et al.; Müller, U.; Mautner, V.-F.; Wimmer, K.; Robinson, P. N.; Vingron, M.; Tinschert, S.; Mundlos, S.; Kolanczyk, M.: Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient. European journal of human genetics 23 (6), pp. 1870 - 1873 (2015)

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)