Publications

Journal Article (405)

1.
Journal Article
Melo, U. S.; Jatzlau, J.; Prada-Medina, C. A.; Flex, E.; Hartmann, S.; Ali, S.; Schöpflin, R.; Bernardini, L.; Ciolfi, A.; Moeinzadeh, H. et al.; Klever, M.-K.; Altay, A.; Vallecillo-García, P.; Carpentieri, G.; Delledonne, M.; Ort, M.-J.; Schwestka, M.; Battista Ferrero, G.; Tartaglia, M.; Brusco, A.; Gossen, M.; Strunk, D.; Geißler, S.; Mundlos, S.; Stricker, S.; Knaus, P.; Giorgio, E.; Spielmann, M.: Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation. Nature Communications 14, 2034 (2023)
2.
Journal Article
Mensah, M. A.; Niskanen, H.; Magalhães, A. P.; Basu, S.; Kircher, M.; Sczakiel, H. L.; Reiter, A. M. V.; Elsner, J.; Meinecke, P.; Biskup, S. et al.; Chung, B. H. Y.; Dombrowsky, G.; Eckmann-Scholz, C.; Hitz, M. P.; Hoischen, A.; Holterhus, P.-M.; Hülsemann, W.; Kahrizi, K.; Kalscheuer, V. M.; Kan, A.; Krumbiegel, M.; Kurth, I.; Leubner, J.; Longardt, A. C.; Moritz, J. D.; Najmabadi, H.; Skipalova, K.; Snijders Blok, L.; Tzschach, A.; Wiedersberg, E.; Zenker, M.; Garcia-Cabau, C.; Buschow, R.; Salvatella, X.; Kraushar, M. L.; Mundlos, S.; Caliebe, A.; Spielmann, M.; Horn, D.; Hnisz, D.: Aberrant phase separation and nucleolar dysfunction in rare genetic diseases. Nature 614, pp. 564 - 571 (2023)
3.
Journal Article
Palmer, E. E.; Pusch, M.; Picollo, A.; Forwood, C.; Nguyen, M. H.; Suckow, V.; Gibbons, J.; Hoff, A.; Sigfrid, L.; Megarbane, A. et al.; Nizon, M.; Cogné, B.; Beneteau, C.; Alkuraya, F. S.; Chedrawi, A.; Hashem, M. O.; Stamberger, H.; Weckhuysen, S.; Vanlander, A.; Ceulemans, B.; Rajagopalan, S.; Nunn, K.; Arpin, S.; Raynaud, M.; Motter, C. S.; Ward-Melver, C.; Janssens, K.; Meuwissen, M.; Beysen, D. ....; Kalscheuer, V. M.: Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition. Molecular Psychiatry 28, pp. 668 - 697 (2023)
4.
Journal Article
Meziane, H.; Birling, M.-C.; Wendling, O.; Leblanc, S.; Dubos, A.; Selloum , M.; Pavlovic, G.; Sorg, T.; Kalscheuer, V. M.; Billuart, P. et al.; Laumonnier, F.; Chelly, J.; van Bokhoven , H.; Herault, Y.: Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models. Biomedicines 10 (12), 3148 (2022)
5.
Journal Article
Leitão, E.; Schröder, C.; Parenti, I.; Dalle, C.; Rastetter, A.; Kühnel, T.; Kuechler, A.; Kaya, S.; Gérard, B.; Schaefer, E. et al.; Nava, C.; Drouot, N.; Engel, C.; Piard, J.; Duban-Bedu1, B.; Villard, L.; Stegmann, A. P. A.; Vanhoutte, E. K.; Verdonschot, J. A. J.; Kaiser, F. J.; Mau-Them, F. T.; Scala, M.; Striano, P.; Frints, S. G. M.; Argilli, E.; Sherr, E. H.; Elder, F.; Buratti, J.; Keren, B.; Mignot, C.; Héron, D.; Mandel, J.-L.; Gecz, J.; Kalscheuer, V. M.; Horsthemke, B.; Piton, A.; Depienne, C.: Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X. Nature Communications 13 (1), 6570 (2022)
6.
Journal Article
González Álvarez, L. F.; Tenorio-Castaño, J.; Poletta, F. A.; Santos-Simarro, F.; Arias, P.; Gallego, N.; Orioli, I. M.; Mundlos, S.; Castilla, E. E.; Martínez-Glez, V. et al.; Martínez-Frías, M. L.; Ruiz-Pérez, V. L.; Nevado, J.; Lapunzina, P.: A large, ten-generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies. American Journal of Medical Genetics Part A, 62994 (2022)
7.
Journal Article
Schöpflin, R.; Melo, U. S.; Moeinzadeh, M. H.; Heller, D.; Laupert, V.; Hertzberg, J.; Holtgrewe, M.; Alavi, N.; Klever, M.-K.; Jungnitsch, J. et al.; Comak, E.; Türkmen, S.; Horn, D.; Duffourd, Y.; Faivre, L.; Callier, P.; Sanlaville, D.; Zuffardi, O.; Tenconi, R.; Kurtas, N. E.; Giglio, S.; Prager, B.; Latos-Bielenska, A.; Vogel, I.; Bugge, M.; Tommerup, N.; Spielmann, M.; Vitobello, A.; Kalscheuer, V. M.; Vingron, M.; Mundlos, S.: Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes. Nature Communications 13, 6470 (2022)
8.
Journal Article
Schindler, M.; Osterwalder, M.; Harabula, I.; Wittler, L.; Tzika, A. C.; Dechmann, D.; Vingron, M.; Visel, A.; Haas, S.; Real, F. M.: Co-option of the transcription factor SALL1 in mole ovotestis formation. bioRxiv, 514220 (2022)
9.
Journal Article
Ringel, A.; Szabo, Q.; Chiariello, A. M.; Chudzik, K.; Schöpflin, R.; Rothe, P.; Mattei, A. L.; Zehnder, T.; Harnett, D.; Laupert, V. et al.; Bianco, S.; Hetzel, S.; Glaser, J.; Phan, M. H. Q.; Schindler, M.; Ibrahim, D. M.; Paliou, C.; Esposito, A.; Prada-Medina, C. A.; Haas, S. A.; Giere, P.; Vingron, M.; Wittler, L.; Meissner, A.; Nicodemi, M.; Cavalli, G.; Bantignies, F.; Mundlos, S.; Robson, M. I.: Repression and 3D-restructuring resolves regulatory conflicts in evolutionarily rearranged genomes. Cell 185 (20), e21, pp. 3689 - 3704 (2022)
10.
Journal Article
Kornak, U.; Saha, N.; Keren, B.; Neumann, A.; Taylor Tavares, A. L.; Piard, J.; Kopp, J.; Rodrigues Alves, J. G.; de los Santos, M. R.; El Choubassi, N. et al.; Ehmke, N.; Jäger, M.; Spielmann, M.; Pantel, J. T.; Lejeune, E.; Fauler, B.; Mielke, T.; Hecht, J.; Meierhofer, D.; Strom, T. M.; Laugel, V.; Brice, A.; Mundlos, S.; Bertoli-Avella, A.; Bauer, P.; Heyd, F.; Boute, O.; Dupont, J.; Depienne, C.; Van Maldergem, L.; Fischer-Zirnsak, B.: Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features. GENETICS IN MEDICINE 24 (9), pp. 1927 - 1940 (2022)
11.
Journal Article
Boschann, F.; Cogulu, M. Ö.; Pehlivan, D.; Balachandran, S.; Vallecillo-Garcia, P.; Grochowski, C. M.; Hansmeier, N. R.; Coban Akdemir, Z. H.; Prada-Medina, C. A.; Aykut, A. et al.; Fischer-Zirnsak, B.; Badura, S.; Durmaz, B.; Ozkinay, F.; Hägerling, R.; Posey, J. E.; Stricker, S.; Gillessen-Kaesbach, G.; Spielmann, M.; Horn, D.; Brockmann, K.; Lupski, J. R.; Kornak, U.; Schmidt, J.: Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis. GENETICS IN MEDICINE, S1098-3600(22)00849-8 (2022)
12.
Journal Article
Berghöfer, J.; Khaveh, N.; Mundlos, S.; Metzger, J.: Simultaneous testing of rule- and model-based approaches for runs of homozygosity detection opens up a window into genomic footprints of selection in pigs. BMC Genomics 23, 564 (2022)
13.
Journal Article
Heck, R.; Fischer-Zirnsak, B.; Photiadis, J.; Horn, D.; Gehle, P.: Different ascending aortic phenotypes with similar mutations in two patients with Loeys-Dietz-Syndrome type 2. Interactive CardioVascular and Thoracic Surgery 35 (1), ivac159 (2022)
14.
Journal Article
Peng, S.; Dahlgren, A. R.; Hales , E. N.; Barber, A. M.; Kalbfleisch, T.; Petersen, J. L.; Bellone, R. R.; Mackowski, M.; Cappelli, K.; Capomaccio, S. et al.; Coleman, S. J.; Distl, O.; Giulotto, E.; Waud, B.; Hamilton , N. A.; Leeb, T.; Lindgren , G.; Lyons, L. A.; McCue, M.; MacLeod, J. N.; Metzger, J.; Mickelson, J. R.; Murphy, B. A.; Orlando, L.; Penedo, C.; Raudsepp, T.; Strand, E.; Tozaki , T.; Trachsel, D. S.; Velie, B. D.; Wade, C. M.; Cieslak, J.; Finno, J. C.: Long-read RNA Sequencing Improves the Annotation of the Equine Transcriptome. bioRxiv, 495038 (2022)
15.
Journal Article
Real, F. M.; Lao-Pérez, M.; Burgos, M.; Mundlos, S.; Lupiáñez, D. G.; Jiménez, R.; Barrionuevo, F. J.: Cell adhesion and immune response, two main functions altered in the transcriptome of seasonally regressed testes of two mammalian species. Journal of Experimental Zoology Part B-Molecular and Developmental Evolution 2022, 14 (2022)
16.
Journal Article
Smajić, S.; Prada-Medina, C. A.; Landoulsi, Z.; Ghelfi, J.; Delcambre, S.; Dietrich, C.; Henck, J.; Balachandran, S.; Pachchek, S.; Morris, C. M. et al.; Antony, P.; Timmermann, B.; Sauer, S.; Pereira, S. L.; Schwamborn, J. C.; May, P.; Grünewald, A.; Spielmann, M.: Single-cell sequencing of human midbrain reveals glial activation and a Parkinson-specific neuronal state. Brain 145 (3), awab446, pp. 964 - 978 (2022)
17.
Journal Article
Hansmeier, N. R.; Büschlen, I. S.; Behncke, R. Y.; Ulferts, S.; Bisoendial, R.; Hägerling, R.: 3D Visualization of Human Blood Vascular Networks Using Single-Domain Antibodies Directed against Endothelial Cell-Selective Adhesion Molecule (ESAM). International Journal of Molecular Sciences 23 (8), 4369 (2022)
18.
Journal Article
Hertzberg, J.; Mundlos, S.; Vingron, M.; Gallone, G.: TADA – a Machine Learning Tool for Functional Annotation based Prioritisation of Putative Pathogenic CNVs. Genome Biology 23, 67 (2022)
19.
Journal Article
Lybaek, H.; Robson, M.; de Leeuw, N.; Hehir-Kwa, J. Y.; Jeffries, A.; Haukanes, B. I.; Berland, S.; de Bruijn, D.; Mundlos, S.; Spielmann, M. et al.; Houge, G.: LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions. Autism Research 15 (3), pp. 421 - 433 (2022)
20.
Journal Article
Boschann, F.; Moreno, D. A.; Mensah, M. A.; Sczakiel, H. L.; Skipalova , K.; Holtgrewe , M.; Mundlos, S.; Fischer-Zirnsak, B.: Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome). Journal of Human Genetics 67, pp. 405 - 410 (2022)
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