Publications

Schachler, K.; Distl, O.; Metzger, J.: Tracing selection signatures in the pig genome gives evidence for selective pressures on a unique curly hair phenotype in Mangalitza. Scientific Reports 2020, 10: 22142 (2020)

Helmsauer, K.; Valieva, M.; Ali , S.; Chamorro González, R.; Schöpflin, R.; Röefzaad, C.; Bei, Y.; Dorado Garcia, H.; Rodriguez-Fos, E.; Puiggròs, M. et al.; Kasack, K.; Haase, K.; Keskeny, C.; Chen, C. Y.; Kuschel, L. P.; Euskirchen, P.; Heinrich, V.; Robson, M.; Rosswog, C.; Toedling, J.; Szymansky, A.; Hertwig, F.; Fischer, M.; Torrents, D.; Eggert, A.; Schulte, J. H.; Mundlos, S.; Henssen, A. G.; Koche, R. P.: Enhancer hijacking determines extrachromosomal circular MYCN amplicon architecture in neuroblastoma. Nature Communications 11 (1), 5823 (2020)

Cao, J.; O’Day, D. R.; Pliner, H. A.; Kingsley, P. D.; Deng, M.; Daza, R. M.; Zager, M. A.; Aldinger, K. A.; Blecher-Gonen, R.; Zhang, F. et al.; Spielmann, M.; Palis, J.; Doherty, D.; Steemers, F. J.; Glass, I. A.; Trapnell, C.; Shendure, J.: A human cell atlas of fetal gene expression. Science 370 (6518), eaba7721 (2020)

Kotzaeridou, U.; Young-Baird, S. K.; Suckow, V.; Thornburg, A. G.; Wagner, M.; Harting, I.; Christ, S.; Strom, T.; Dever, T. E.; Kalscheuer, V. M.: Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review. Clinical Genetics: an international journal of genetics in medicine 98 (5), pp. 507 - 514 (2020)

Pantel, J. T.; Hajjir, N.; Danyel, M.; Elsner, J.; Abad-Perez, A. T.; Hansen, P.; Mundlos, S.; Spielmann, M.; Horn, D.; Ott, C.-E. et al.; Mensah, M. A.: Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study. Journal of Medical Internet Research (JMIR) 22 (10), e19263 (2020)

Real, F. M.; Haas, S. A.; Franchini, P.; Xiong, P.; Simakov, O.; Kuhl, H.; Schöpflin, R.; Heller, D.; Moeinzadeh, M. H.; Heinrich, V. et al.; Krannich , T.; Bressin, A.; Hartmann, M. F.; Wudy, S. A.; Dechmann, D. K. N.; Hurtado, A.; Barrionuevo, F. J.; Schindler, M.; Harabula, I.; Osterwalder, M.; Hiller, M.; Wittler, L.; Visel, A.; Timmermann, B.; Meyer, A.; Vingron, M.; Jiménez, R.; Mundlos, S.; Lupiáñez, D. G.: The mole genome reveals regulatory rearrangements associated with adaptive intersexuality. Science 370 (6513), pp. 208 - 214 (2020)

Grozdanov, P. N.; Masoumzadeh, E.; Kalscheuer, V. M.; Bienvenu, T.; Billuart, P.; Delrue, M.-A.; Latham, M. P.; MacDonald, C. C.: A missense mutation in the CSTF2 gene that impairs the function of the RNA recognition motif and causes defects in 3' end processing is associated with intellectual disability in humans. Nucleic Acids Research (London) 48 (17), pp. 9804 - 9821 (2020)

Suter , A.-A.; Santos-Simarro , F.; Mathiesen Toerring, P.; Abad Perez , A.; Ramos-Mejia, R.; Heath, K. E.; Huckstadt , V.; Parrón-Pajares, M.; Atta Mensah, M.; Hülsemann, W. et al.; Holtgrewe, M.; Mundlos, S.; Kornak, U.; Bartsch, O.; Ehmke, N.: Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals. American Journal of Medical Genetics Part A 182 (9), pp. 2068 - 2076 (2020)

Mehvari, S.; Larti, F.; Hu, H.; Fattahi, Z.; Beheshtian, M.; Abedini, S. S.; Arzhangi, S.; Ropers, H.-H.; Kalscheuer, V. M.; Auld, D. et al.; Kahrizi, K.; Riazalhosseini, Y.; Najmabadi, H.: Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability. Molecular Genetics & Genomic Medicine 8 (10), e1418 (2020)

Melo, U. S.; Schöpflin, R.; Acuna-Hidalgo, R.; Mensah, M. A.; Fischer-Zirnsak, B.; Holtgrewe, M.; Klever, M.-K.; Türkmen, S.; Heinrich, V.; Datkhaeva Pluym, I. et al.; Matoso, E.; de Sousa, S. B.; Louro, P.; Hülsemann, W.; Cohen, M.; Dufke, A.; Latos-Bieleńska, A.; Vingron, M.; Kalscheuer, V.; Quintero-Rivera, F.; Spielmann, M.; Mundlos, S.: Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases. The American Journal of Human Genetics 106 (6), pp. 872 - 884 (2020)

Basu, S.; Mackowiak, S.; Niskanen, H.; Knezevic, D.; Asimi, V.; Grosswendt, S.; Geertsema, H.; Ali, S.; Jerković, I.; Ewers, H. et al.; Mundlos, S.; Meissner, A.; Ibrahim, D. M.; Hnisz, D.: Unblending of Transcriptional Condensates in Human Repeat Expansion Disease. Cell 181 (5), pp. 1062 - 1079 (2020)

Ibrahim, D. M.; Mundlos, S.: The role of 3D chromatin domains in gene regulation: a multi-facetted view on genome organization. Current Opinion in Genetics & Development 61, pp. 1 - 8 (2020)

Klever, M.-K.; Sträng, E.; Jungnitsch, J.; Melo, U. S.; Hetzel, S.; Dolnik, A.; Schöpflin, R.; Schrezenmeier, J. F.; Blau, O.; Westermann, J. et al.; Döhner, K.; Schrezenmeier, H.; Spielmann, M.; Meissner, A.; Mundlos, S.; Bullinger, L.: Integration of Hi-C and Nanopore Sequencing for Structural Variant Analysis in AML with a Complex Karyotype: (Chromothripsis)². 62nd Annual Meeting and Exposition of the American Society of Hematology (ASH) (Virtual meeting), December 05, 2020 - December 08, 2020. Blood 136, S28, (2020)

Smajić, S.; Prada-Medina, C. A.; Landoulsi​, Z.; Dietrich, C.; Jarazo, J.; Henck, J.; Balachandran, S.; Pachchek, S.; Morris, C. M.; Antony, P. et al.; Timmermann, B.; Sauer, S.; Schwamborn, J. C.; May, P.; Grünewald, A.; Spielmann, M.: Single-cell sequencing of the human midbrain reveals glial activation and a neuronal state specific to Parkinson’s disease. medRxiv (2020)