Journal Article (356)

1. 21.
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   Pantel, J. T.; Zhao, M.; Mensah, M.; Hajjir, N.; Hsieh, T.-C.; Hanani, Y.; Fleischer, N.; Kamphans, T.; Mundlos, S.; Gurovich, Y. et al.; M. Krawitz, P.: Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism. Journal of Inherited Metabolic Disease 41 (3), pp. 533 - 539 (2018)
2. 22.
   MPG.PuRe

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   Thormann, V.; Rothkegel, M. C.; Schöpflin, R.; Glaser, L. V.; Djuric, P.; Li, N.; Chung, H.-R.; Schwahn, K.; Vingron, M.; Meijsing, S.: Genomic dissection of enhancers uncovers principles of combinatorial regulation and dynamic wiring of enhancer-promoter contacts. Nucleic Acids Research (London) 46 (6), pp. 2868 - 2882 (2018)
3. 23.
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   Orgeur, M.; Martens, M.; Leonte, G.; Nassari, S.; Bonnin, M.-A.; Börno, S. T.; Timmermann, B.; Hecht, J.; Duprez, D.; Stricker, S.: Genome-wide strategies identify downstream target genes of connective tissue-associated transcription factors. Development 145 (7) (2018)
4. 24.
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   Smol, T.; Petit, F.; Piton, A.; Keren, B.; Sanlaville, D.; Afenjar, A.; Baker, S.; Bedoukian, E. C.; Bhoj, E. J.; Bonneau, D. et al.; Boudry-Labis, E.; Bouquillon, S.; Boute-Benejean, O.; Caumes, R.; Chatron, N.; Colson, C.; Coubes, C.; Coutton, C.; Devillard, F.; Dieux-Coeslier, A.; Doco-Fenzy, M.; Ewans, L. J.; Faivre, L.; Fassi, E.; Field, M.; Fournier, C.; Francannet, C.; Genevieve, D.; Giurgea, I.; Goldenberg, A.; Green, A. K.; Guerrot, A. M.; Heron, D.; Isidor, B.; Keena, B. A.; Krock, B. L.; Kuentz, P.; Lapi, E.; Le Meur, N.; Lesca, G.; Li, D.; Marey, I.; Mignot, C.; Nava, C.; Nesbitt, A.; Nicolas, G.; Roche-Lestienne, C.; Roscioli, T.; Satre, V.; Santani, A.; Stefanova, M.; Steinwall Larsen, S.; Saugier-Veber, P.; Picker-Minh, S.; Thuillier, C.; Verloes, A.; Vieville, G.; Wenzel, M.; Willems, M.; Whalen, S.; Zarate, Y. A.; Ziegler, A.; Manouvrier-Hanu, S.; Kalscheuer, V. M.; Gerard, B.; Ghoumid, J.: MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype. Neurogenetics (2018)
5. 25.
   MPG.PuRe

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   Piard, J.; Lespinasse, J.; Vlckova, M.; Mensah, M.; Lurian, S.; Simandlova, M.; Malikova, M.; Bartsch, O.; Rossi, M.; Lenoir, M. et al.; Nugues, F.; Mundlos, S.; Kornak, U.; Stanier, P.; Sousa, S.; Van Maldergem, L.: Cutis Laxa and Excessive Bone Growth due to de novo mutations in PTDSS1. American Journal of Medical Genetics Part A 176 (3), pp. 668 - 675 (2018)
6. 26.
   MPG.PuRe

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   Ho, B.; Greenlaw, K.; Al Tuwaijri, A.; Moussette, S.; Martinez, F.; Giorgio, E.; Brusco, A.; Ferrero, G. B.; Linhares, N. D.; Valadares, E. R. et al.; Svartman, M.; Kalscheuer, V. M.; Rodriguez Criado, G.; Laprise, C.; Greenwood, C. M. T.; Naumova, A. K.: X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells. Biology of Sex Differences 9 (1) (2018)
7. 27.
   MPG.PuRe

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   Piard, J.; Hu, J. H.; Campeau, P. M.; Rzonca, S.; Van Esch, H.; Vincent, E.; Han, M.; Rossignol, E.; Castaneda, J.; Chelly, J. et al.; Skinner, C.; Kalscheuer, V. M.; Wang, R.; Lemyre, E.; Kosinska, J.; Stawinski, P.; Bal, J.; Hoffman, D. A.; Schwartz, C. E.; Van Maldergem, L.; Wang, T.; Worley, P. F.: FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis. Human Molecular Genetics 27 (4), pp. 589 - 600 (2018)
8. 28.
   MPG.PuRe

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   Palmer, E. E.; Stuhlmann, T.; Weinert, S.; Haan, E.; van Esch, H.; Holvoet, M.; Boyle, J.; Leffler, M.; Raynaud, M.; Moraine, C. et al.; van Bokhoven, H.; Kleefstra, T.; Kahrizi, K.; Najmabadi, H.; Ropers, H.-H.; Delgado, M. R.; Sirsi, D.; Golla, S.; Sommer, A.; Pietryga, M. P.; Chung, W. K.; Wynn, J.; Rohena, L.; Bernardo, E.; Hamlin, D.; Faux, B. M.; Grange, D. K.; Manwaring, L.; Tolmie, J.; Joss, S.; Study, D. D. D.; Cobben, J. M.; Duijkers, F. A. M.; Goehringer, M.; Challman, T. D.; Hennig, F.; Fischer, U.; Grimme, A.; Suckow, V.; Musante, L.; Nicholl, J.; Shaw, M.; Lodh, S. P.; Niu, Z.; Rosenfeld, A.; Stankiewicz, P.; Jentsch, T. H.; Gecz, J.; Field, M.; Kalscheuer, V. M.: De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. Molecular Psychiatry 23 (2), pp. 222 - 230 (2018)
9. 29.
   MPG.PuRe

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   Orgeur, M.; Martens, M.; Börno, S. T.; Timmermann, B.; Duprez, D.; Stricker, S.: A dual transcript-discovery approach to improve the delimitation of gene features from RNA-seq data in the chicken model. Biology Open 7 (1) (2018)
10. 30.
    MPG.PuRe

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    Knaus, A.; Pantel, J. T.; Pendziwiat, M.; Hajjir, N.; Zhao, M.; Hsieh, T.-C.; Schubach, M.; Gurovich, Y.; Fleischer, N.; Jäger, M. et al.; Köhler, S.; Muhle, H.; Korff, C.; Møller, R. S.; Bayat, A.; Calvas, P.; Chassaing, N.; Warren, H.; Skinner, S.; Louie, R.; Evers, C.; Bohn, M.; Christen, H.-J.; van den Born, M.; Obersztyn, E.; Charzewska, A.; Endziniene, M.; Kortüm, F.; Brown, N.; Robinson, P. N.; Schelhaas, H. J.; Weber, Y.; Helbig, I.; Mundlos, S.; Horn, D.; Krawitz, P. M.: Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis. Genome Medicine 10 (1) (2018)
11. 31.
    MPG.PuRe

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    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 2018 (2018)
12. 32.
    MPG.PuRe

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    Chan, W. L.; Steiner, M.; Witkos, T.; Egerer, J.; Busse, B.; Mizumoto, S.; Pestka, J. M.; Zhang, H.; Hausser, I.; Khayal, L. A. et al.; Ott, C.-E.; Kolanczyk, M.; Willie, B.; Schinke, T.; Paganini, C.; Rossi, A.; Sugahara, K.; Amling, M.; Knaus, P.; Chan, D.; Lowe, M.; Mundlos, S.; Kornak, U.: Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica. PLoS Genetics 14 (3), e1007242 (2018)
13. 33.
    MPG.PuRe

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    Geissler, S.; Textor, M.; Stumpp, S.; Seitz, S.; Lekaj, A.; Brunk, S.; Klaassen, S.; Schinke, T.; Klein, C.; Mundlos, S. et al.; Kornak, U.; Kühnisch: Loss of murine Gfi1 causes neutropenia and induces osteoporosis depending on the pathogen load and systemic inflammation. PLoS One 13 (6), e0198510 (2018)
14. 34.
    MPG.PuRe

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    Rauner, M.; Buttgereit, F.; Distler, J.; Garbe, A. I.; Herrmann, M.; Hofbauer, L.; Hoffmann, M.; Jessberger, R.; Kornak, U.; Krönke, G. et al.; Mundlos, S.; Spies, C.; Tuckermann, J.; Zwerina, J.: Osteoimmunologie – IMMUNOBONE: Regulation des Knochens durch Entzündung. Zeitschrift für Rheumatologie 77 (Suppl.1), pp. S12 - S15 (2018)
15. 35.
    MPG.PuRe

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    Rolvien, T.; Kornak, U.; Stürznickel, J.; Schinke, T.; Amling, M.; Mundlos, S.; Oheim, R.: A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern. Osteoporosis International 29 (1), pp. 243 - 246 (2018)
16. 36.
    MPG.PuRe

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    Hector, R. D.; Kalscheuer, V. M.; Hennig, F.; Leonard, H.; Downs, J.; Clarke, A.; Benke, T. A.; Armstrong, J.; Pineda, M.; Bailey, M. E. S. et al.; Cobb, S. R.: CDKL5 variants: Improving our understanding of a rare neurologic disorder. Neurology Genetics 3 (6) (2017)
17. 37.
    MPG.PuRe

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    Ehmke, N.; Graul-Neumann, L.; Smorag, L.; Koenig, R.; Segebrecht, L.; Magoulas, P.; Scaglia, F.; Kilic, E.; Hennig, A. F.; Adolphs, N. et al.; Saha, N.; Fauler, B.; Kalscheuer, V. M.; Hennig, F.; Altmüller, J.; Netzer, C.; Thiele, H.; Nürnberg, P.; Yigit, G.; Jäger, M.; Hecht, J.; Krüger, U.; Mielke, T.; Krawitz, P. M.; Horn, D.; Schuelke, M.; Mundlos, S.; Bacino, C. A.; Bonnen, P. E.; Wollnik, B.; Fischer-Zirnsak, B.; Kornak, U.: De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. The American Journal of Human Genetics 101 (5), pp. 833 - 843 (2017)
18. 38.
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    Niturad, C. E.; Lev, D.; Kalscheuer, V. M.; Charzewska, A.; Schubert, J.; Lerman-Sagie, T.; Kroes, H. Y.; Oegema, R.; Traverso, M.; Specchio, N. et al.; Lassota, M.; Chelly, J.; Bennett-Back, O.; Carmi, N.; Koffler-Brill, T.; Iacomino, M.; Trivisano, M.; Capovilla, G.; Striano, P.; Nawara, M.; Rzonca, S.; Fischer, U.; Bienek, M.; Jensen, C.; Hu, H.; Thiele, H.; Altmüller, J.; Krause, R.; May, P.; Becker, F.; Euro, E. C.; Balling, R.; Biskup, S.; Haas, S. A.; Nürnberg, P.; van Gassen, K. L. I.; Lerche, H.; Zara, F.; Maljevic, S.; Leshinsky-Silver, E.: Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features. Brain 140 (11), pp. 2879 - 2894 (2017)
19. 39.
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    Vallecillo-García, P.; Orgeur, M.; vom Hofe-Schneider, S.; Stumm, J.; Kappert, V.; Ibrahim, D.; Börno, S. T.; Hayashi, S.; Relaix, F.; Hildebrandt, K. et al.; Sengle, G.; Koch, M.; Timmermann, B.; Marazzi, G.; Sassoon, D. A.; Duprez, D.; Stricker, S.: Odd skipped-related 1 identifies a population of embryonic fibro-adipogenic progenitors regulating myogenesis during limb development. Nature Communications 8 (1) (2017)
20. 40.
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    Will , A. J.; Cova, G.; Osterwalder, M.; Chan, W. L.; Wittler, L.; Brieske, N.; Heinrich, V.; de Villartay, J. P.; Vingron, M.; Klopocki, E. et al.; Visel, A.; Lupianez, D. G.; Mundlos, S.: Composition and dosage of a multipartite enhancer cluster control developmental expression of Ihh (Indian hedgehog). Nature Genetics 49 (10), pp. 1539 - 1545 (2017)