The following publications were published exclusively under the affiliation of the Max Planck Society. For publications by the principal investigator outside of the Max Planck Society, see the links on the lower left.

Journal Article (452)

Journal Article
Paliou, C.; Guckelberger, P.; Schöpflin, R.; Heinrich, V.; Esposito, A.; Chiariello, A. M.; Bianco, S.; Annunziatella, C.; Helmuth, J.; Haas, S. et al.; Jerković, I.; Brieske, N.; Wittler, L.; Timmermann, B.; Nicodemi, M.; Vingron, M.; Mundlos, S.; Andrey, G.: Preformed Chromatin Topology Assists Transcriptional Robustness of Shh during Limb Development. Proceedings of the National Academy of Sciences of the United States of America 116 (25), pp. 12390 - 12399 (2019)
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Beheshtian, M.; Fattahi, Z.; Fadaee, M.; Vazehan, R.; Jamali, P.; Parsimehr, E.; Kamgar, M.; Zonooz, M. F.; Mahdavi, S. S.; Kalhor, Z. et al.; Arzhangi, S.; Abedini, S. S.; Kermani , F. S.; Mojahedi, F.; Kalscheuer, V. M.; Ropers, H.-H.; Kariminejad , A.; Najmabadi, H.; Kahrizi, K.: Identification of disease-causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families. Clinical Genetics: an international journal of genetics in medicine 95 (6), pp. 641 - 739 (2019)
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Chiou, T. T.; Long, P.; Schumann-Gillett, A.; Kanamarlapudi, V.; Haas, S. A.; Harvey, K.; O'Mara, M. L.; De Blas, A. L.; Kalscheuer, V. M.; Harvey, R. J.: Mutation p.R356Q in the Collybistin Phosphoinositide Binding Site Is Associated With Mild Intellectual Disability. Frontiers in Molecular Neuroscience 12, Article 60 (2019)
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Kraft, K.; Magg, A.; Heinrich, V.; Riemenschneider, C.; Schöpflin, R.; Markowski, J.; Ibrahim, D.; Acuna-Hidalgo, R.; Despang, A.; Andrey, G. et al.; Wittler, L.; Timmermann, B.; Vingron, M.; Mundlos, S.: Serial genomic inversions induce tissue-specific architectural stripes, gene misexpression and congenital malformations. Nature Cell Biology 21 (3), pp. 305 - 310 (2019)
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Khayat, W.; Hackett , A.; Shaw, M.; Ilie , A.; Dudding-Byth , T.; Kalscheuer, V. M.; Christie , L.; Corbett , M. A.; Juusola , J.; Friend, K. L. et al.; Kirmse , B. M.; Gecz , J.; Field, M.; Orlowski, J.: A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation. Human Molecular Genetics 28 (4), pp. 598 - 614 (2019)
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Hosseini, M.; Fattahi, Z.; Abedini, S. S.; Hu, H.; Ropers, H. H.; Kalscheuer, V. M.; Najmabadi, H.; Kahrizi, K.: GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability. Am J Med Genet A 179 (1), pp. 13 - 19 (2019)
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Kahrizi, K.; Hu, H.; Hosseini, M.; Kalscheuer, V. M.; Fattahi, Z.; Beheshtian, M.; Suckow, V.; Mohseni, M.; Lipkowitz, B.; Mehvari, S. et al.; Mehrjoo, Z.; Akhtarkhavari, T.; Ghaderi, Z.; Rahimi, M.; Arzhangi, S.; Jamali, P.; Falahat Chian, M.; Nikuei , P.; Sabbagh Kermani, F.; Sadeghinia, F.; Jazayeri , R.; Tonekaboni, S. H.; Khoshaeen, A.; Habibi, H.; Pourfatemi, F.; Mojahedi , F.; Khodaie‐Ardakani, M.; Najafipour, R.; Wienker, T. F.; Najmabadi , H.; Ropers, H.-H.: Effect of inbreeding on intellectual disability revisited by Trio sequencing. Clinical Genetics: an international journal of genetics in medicine 95 (1), pp. 151 - 159 (2019)
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Hernandez-Miranda, L. R.; Ibrahim, D.; Ruffault, P.-L.; Larrosa, M.; Balueva, K.; Müller, T.; Weerd, W. d.; Stolte-Dijkstra, I.; Hostra, R. M. W.; Brunet, J.-F. et al.; Fortin, G.; Mundlos, S.; Birchmeier, C.: Mutation in LBX1/Lbx1 precludes transcription factor cooperativity and causes congenital hypoventilation in humans and mice. Proceedings of the National Academy of Sciences of the United States of America 115 (51), pp. 13021 - 13026 (2018)
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Luther, J.; Yorgan, T. A.; Rolvien, T.; Ulsamer, L.; Koehne, T.; Liao, N.; Keller, D.; Vollersen, N.; Teufel, S.; Neven, M. et al.; Peters, S.; Schweizer, M.; Trumpp, A.; Rosigkeit, S.; Bockamp, E.; Mundlos, S.; Kornak, U.; Oheim, R.; Amling, M.; Schinke, T.; David, J.-P.: Wnt1 is an Lrp5-independent bone-anabolic Wnt ligand. Science Translational Medicine 10 (466), eaau7137 (2018)
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Kragesteen, B.; Duboule, D.; Mundlos, S.; Spielmann, M.: Response to Peron et al. GENETICS IN MEDICINE 20, pp. 1481 - 1482 (2018)
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Rolvien, T.; Stürznickel, J.; Schmidt, F. N.; Butscheidt, S.; Schmidt, T.; Busse, B.; Mundlos, S.; Schinke, T.; Kornak, U.; Amling, M. et al.; Oheim, R.: Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis. Calcified Tissue International 103 (5), pp. 512 - 521 (2018)
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Holtgrewe, M.; Knaus, A.; Hildebrand, G.; Pantel, J.-T.; de los Santos, M. R.; Neveling, K.; Goldmann, J.; Schubach, M.; Jäger, M.; Coutelier, M. et al.; Mundlos, S.; Beule, D.; Sperling, K.; Krawitz, P. M.: Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation. Scientific Reports 8 (1), 14611 (2018)
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Basilicata, M. F.; Bruel, A.-L.; Semplicio, G.; Keller Valsecchi, C. I.; Aktaş, T.; Duffourd, Y.; Rumpf, T.; Morton, J.; Bache, I.; Szymanski, W. G. et al.; Gilissen, C.; Vanakker, O.; Õunap, K.; Mittler, G.; van der Burgt, I.; El Chehadeh, S.; Cho, M. T.; Pfundt, R.; Tan, T. Y.; Kirchhoff, M.; Menten, B.; Vergult, S.; Lindstrom, K.; Reis, A.; Johnson, D. S.; Fryer, A.; McKay, V.; Study, D. D. D.; Fisher, R. B.; Thauvin-Robinet, C.; Francis, D.; Roscioli, T.; Pajusalu, S.; Radtke, K.; Ganesh, J.; Brunner, H. G.; Wilson, M.; Faivre, L.; Kalscheuer, V. M.; Thevenon, J.; Akhtar, A.: De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. Nature Genetics 50 (10), pp. 1442 - 1451 (2018)
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Kragesteen , B. K.; Spielmann, M.; Paliou, C.; Heinrich, V.; Schöpflin, R.; Esposito, A.; Annunziatella, C.; Bianco , S.; Chiariello, A. M.; Jerković , I. et al.; Harabula, I.; Guckelberger, P.; Pechstein, M.; Wittler, L.; Chan, W.-L.; Franke, M.; Lupiáñez , D. G.; Kraft, K.; Timmermann, B.; Vingron, M.; Visel, A.; Nicodemi, M.; Mundlos, S.; Andrey, G.: Dynamic 3D chromatin architecture determines enhancer specificity and morphogenetic identity in limb development. Nature Genetics 50 (10), pp. 1463 - 1473 (2018)
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Castori, M.; Ott, C.-E.; Bisceglia, L.; Leone, M. P.; Mazza, T.; Castellana, S.; Tomassi, J.; Lanciotti, S.; Mundlos, S.; Hennekam, R. C. et al.; Kornak, U.; Brancati, F.: A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome. American Journal of Medical Genetics Part A 176 (9), pp. 2028 - 2033 (2018)
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Khayal, A. L.; Grünhagen, J.; Provaznik, I.; Mundlos, S.; Kornak, U.; Robinson, P.; Ott, C.-E.: Transcriptional profiling of murine osteoblast differentiation based on RNA-seq expression analyses. Bone 113, pp. 29 - 40 (2018)
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Charzewska, A.; Maiwald, R.; Kahrizi, K.; Oehl‐Jaschkowitz, B.; Dufke, A.; Lemke, J. R.; Enders, H.; Najmabadi, H.; Tzschach, A.; Hachmann, W. et al.; Jensen, C.; Bienek, M.; Poznański, J.; Nawara, M.; Chilarska, T.; Obersztyn, E.; Hoffman‐Zacharska, D.; Gos, M.; Bal, J.; Kalscheuer, V. M.: The power of the Mediator complex—Expanding the genetic architecture and phenotypic spectrum of MED12‐related disorders. Clinical Genetics: an international journal of genetics in medicine 2018, 13412 (2018)
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Selvan, N.; George, S.; Serajee, F. J.; Shaw, M.; Hobson, L.; Kalscheuer, V.; Nripesh, P.; Levy, S. E.; Taylor, J.; Aftimos, S. et al.; Schwartz, C. E.; Huq, A. M.; Gecz, J.; Wells, L.: O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling. Journal of Biological Chemistry 293 (27), pp. 10810 - 10824 (2018)
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Butscheidt, S.; Delsmann, A.; Rolvien, T.; Barvencik, F.; Al-Bughaili, M.; Mundlos, S.; Schinke, T.; Amling, M.; Kornak, U.; Oheim, R.: Mutational analysis uncovers monogenic bone disorders in women with pregnancy-associated osteoporosis: three novel mutations in LRP5, COL1A1, and COL1A2. Osteoporosis International 29 (7), pp. 1643 - 1651 (2018)
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Spielmann, M.; Lupiáñez, D. G.; Mundlos, S.: Structural variation in the 3D genome. Nature Reviews Genetics 19 (7), pp. 453 - 467 (2018)
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