Publications

Grunert, M.; Appelt, S.; Dunkel, I.; Berger, F.; Sperling, S. R.: Altered microRNA and target gene expression related to Tetralogy of Fallot. Scientific Reports 9, 19063 (2019) (2019)

Hiepen, C.; Jatzlau, J.; Hildebrandt, S.; Kampfrath, B.; Goktas, M.; Murgai, A.; Cuellar Camacho, J. L.; Haag, R.; Ruppert, C.; Sengle, G. et al.; Cavalcanti-Adam, E. A.; Blank, K. G.; Knaus, P.: BMPR2 acts as a gatekeeper to protect endothelial cells from increased TGFβ responses and altered cell mechanics. PLoS Biology 17 (12), e3000557 (2019)

Ramisch, A.; Heinrich, V.; Glaser, L. V.; Fuchs, A.; Yang, X.; Benner, P.; Schöpflin, R.; Li, N.; Kinkley, S.; Römer-Hillmann, A. et al.; Longinotto, J.; Heyne, S.; Czepukojc, B.; Kessler, S. M.; Kiemer, A. K.; Cadenas, C.; Arrigoni, L.; Gasparoni, N.; Manke, T.; Pap, T.; Pospisilik, A.; Hengstler, J.; Walter, J.; Meijsing, S.; Chung, H.-R.; Vingron, M.: CRUP: a comprehensive framework to predict condition-specific regulatory units. Genome Biology: Biology for the Post-Genomic Era 20, 20:227 (2019)

Despang, A.; Schöpflin, R.; Franke, M.; Ali, S.; Jerković, I.; Paliou, C.; Chan, W.-L.; Timmermann, B.; Wittler, L.; Vingron, M. et al.; Mundlos, S.; Ibrahim, D. M.: Functional dissection of the Sox9-Kcnj2 locus identifies nonessential and instructive roles of TAD architecture. Nature Genetics 51 (8), pp. 1263 - 1271 (2019)

Hu, H.; Kahrizi, K.; Musante, L.; Fattahi, Z.; Herwig, R.; Hosseini, M.; Oppitz, C.; Abedini, S. S.; Suckow, V.; Farzaneh, L. et al.; Beheshtian, M.; Lipkowitz, B.; Akhtarkhavari, T.; Mehvari, S.; Otto, S.; Mohseni, M.; Arzhangi, S.; Jamali, P.; Mojahedi, F.; Taghdiri, M.; Papari, E.; Soltani Banavandi, M. J.; Akbari, S.; Tonekaboni, S. H.; Dehghani, H.; Ebrahimpou, M. R.; Bader, I.; Davarnia, B.; Cohen, M.; Khodaei, H.; Albrecht, B.; Azimi, S.; Zirn, B.; Bastami, M.; Wieczorek, D.; Bahrami, G.; Keleman, K.; Vahid, L. N.; Timmermann, B.; Pourfatemi, F.; Jankhah, A.; Chen, W.; Nikuei, P.; Kalscheuer, V. M.; Oladnabi, M.; Wienker, T. F.; Ropers, H.-H.; Najmabadi, H.: Genetics of intellectual disability in consanguineous families. Molecular Psychiatry 24 (7), pp. 1027 - 1039 (2019)

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. bioRxiv (Preprint Server) 2019, 528877 (2019)

Frints, S. G. M.; Hennig, F.; Colombo, R.; Jacquemont, S.; Terhal, P.; Zimmerman, H. H.; Hunt, D.; Mendelsohn, B. A.; Kordaß, U.; Webster, R. et al.; Sinnema, M.; Abdul‐Rahman, O.; Suckow, V.; Fernández‐Jaén, A.; van Roozendaal, K.; Stevens, S. J. C.; Macville, M. V. E.; Al‐Nasiry, S.; van Gassen, K.; Utzig, N.; Koudijs, S. M.; McGregor, L.; Maas, S. M.; Baralle, D.; Dixit, A.; Wieacker, P.; Lee, M.; Lee, A. S.; Engle, E. C.; Houge, G.; Velasco, D.; Hennekam, R. C.; Hirata, H.; Kalscheuer, V. M.: Deleterious de novo variants of X‐linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. Human Mutation 2019, pp. 1 - 16 (2019)

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)

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)

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)

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)

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)

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)

Kragesteen, B.; Duboule, D.; Mundlos, S.; Spielmann, M.: Response to Peron et al. GENETICS IN MEDICINE 20, pp. 1481 - 1482 (2018)

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)

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)

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)

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)

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)

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)