Publications

Journal Article (380)

1.
Journal Article
Voisin, N.; Schnur, R. E.; Douzgou , S.; Hiatt, S. M.; Rustad, C. F.; Brown, N. J.; Earl, D. L.; Keren, B.; Levchenko, O.; Geuer, S. et al.; Verheyen, S.; Johnson , D.; Zarate, Y. A.; Hančárová, M.; Amor, D. J.; Bebin, E. M.; Blatterer, J.; Brusco, A.; Cappuccio, G.; Charrow, J.; Chatron, N.; Cooper, G. M.; Courtin, T.; Dadali, E.; Delafontaine, J.; Del Giudice, E.; Doco, M.; Douglas, G.; Eisenkölbl, A.; Funari, T.; Giannuzzi , G.; Gruber-Sedlmayr, U.; Guex, N.; Heron, D.; Holla, Ø. L.; Hurst, A. C. E.; Juusola, J.; Kronn, D.; Lavrov, A.; Lee, C.; Lorrain, S.; Merckoll, E.; Mikhaleva, A.; Norman, J.; Pradervand, S.; Prchalová, D.; Rhodes, L.; Sanders , V. R.; Sedláček, Z.; Seebacher , H. A.; Sellars, E. A.; Sirchia, F.; Takenouchi, T.; Tanaka, A. J.; Taska-Tench, H.; Tønne, E.; Tveten, K.; Vitiello, G.; Vlčková , M.; Uehara, T.; Nava, C.; Yalcin, B.; Kosaki, K.; Donnai, D.; Mundlos, S.; Brunetti-Pierri, N.; Chung, W. K.; Reymond, A.: Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. The American Journal of Human Genetics 108 (5), pp. 857 - 873 (2021)
2.
Journal Article
Knudsen, T. B.; Spielmann, M.; Megason, S. G.; Faustman, E. M.: Single-cell profiling for advancing birth defects research and prevention. Birth Defects Research 113 (7), pp. 546 - 559 (2021)
3.
Journal Article
Allou, L.; Balzano, S.; Magg, A.; Quinodoz, M.; Royer-Bertrand, B.; Schöpflin, R.; Chan, W.-L.; Speck-Martins, C. E.; Rocha Carvalho, D.; Farage, L. et al.; Marques Lourenço, C.; Albuquerque, R.; Rajagopal, S.; Nampoothiri, S.; Campos-Xavier, B.; Chiesa, C.; Niel-Bütschi, F.; Wittler, L.; Timmermann, B.; Spielmann, M.; Robson, M.; Ringel, A.; Heinrich, V.; Cova, G.; Andrey , G.; Prada-Medina, C. A.; Pescini-Gobert, R.; Unger, S.; Bonafé, L.; Grote, P.; Rivolta, C.; Mundlos, S.; Superti-Furga, A.: Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator. Nature (2021)
4.
Journal Article
de Los Santos, M. R.; Rivalan, M.; David, F. S.; Stumpf, A.; Pitsch, J.; Tsortouktzidis, D.; Moreno Velasquez, L.; Voigt, A.; Schilling, K.; Mattei, D. et al.; Long, M.; Vogt, G.; Knaus, A.; Fischer-Zirnsak, B.; Wittler, L.; Timmermann, B.; Robinson , P. N.; Horn, D.; Mundlos, S.; Kornak, U.; Becker, A. J.; Schmitz , D.; Winter, Y.; Krawitz, P. M.: A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions. Proceedings of the National Academy of Sciences of the United States of America 118 (2), e2014481118 (2021)
5.
Journal Article
Melo, U. S.; Bonner, D.; Lloyd, K. C. K.; Moshiri, A.; Willis, B.; Lanoue, L.; Bower, L.; Leonard, B. C.; Martins, D. J.; Gomes, F. et al.; de Souza Leite, F.; Oliveira, D.; Kitajima, J. P.; Monteiro, F. P.; Zatz, M.; Martins Menck, C. F.; Wheeler, M. T.; Bernstein, J. A.; Dumas, K.; Spiteri, E.; Di Donato, N.; Jahn, A.; Hashem, M.; Alsaif, H. S.; Chedrawi, A.; Alkuraya, F. S.; Kok, F.; Byers, H. M.: Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay. GENETICS IN MEDICINE 23, pp. 661 - 668 (2021)
6.
Journal Article
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)
7.
Journal Article
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 2020 (11), 11:5823 (2020)
8.
Journal Article
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)
9.
Journal Article
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)
10.
Journal Article
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)
11.
Journal Article
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)
12.
Journal Article
Smajic, S.; Prada-Medina, C. A.; Landoulsi, Z.; Dietrich, C.; Jarazo, J.; Henck, J.; Balachandran, S.; Pachchek, S.; Morris, C. M.; Anthony, P. et al.; Timmermann, B.; Sauer, S.; Schwamborn, J. C.; May, P.; Grunewald, A.; Spielmann, M.: Single-cell sequencing of the human midbrain reveals glial activation and a neuronal state specific to Parkinson's disease. medRxiv (The Preprint Server for health sciences.) (2020)
13.
Journal Article
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)
14.
Journal Article
Beheshtian, M.; Akhtarkhavari, T.; Mehvari, S.; Mohseni, M.; Fattahi, Z.; Abedini, S. S.; Arzhangi , S.; Fadaee, M.; Jamali , P.; Najafipour, R. et al.; Kalscheuer, V. M.; Hu, H.; Ropers, H.-H.; Najmabadi, H.; Kahrizi, K.: Comprehensive genotype‐phenotype correlation in AP‐4 deficiency syndrome; Adding data from a large cohort of Iranian patients. Clinical Genetics: an international journal of genetics in medicine 2020, pp. 1 - 6 (2020)
15.
Journal Article
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)
16.
Journal Article
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)
17.
Journal Article
Hertzberg, J.; Mundlos, S.; Vingron, M.; Gallone, G.: TADA – a Machine Learning Tool for Functional Annotation based Prioritisation of Putative Pathogenic CNVs. bioRxiv - The Preprint Server for Biology 2020 (2020)
18.
Journal Article
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)
19.
Journal Article
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), e30, pp. 1062 - 1079 (2020)
20.
Journal Article
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, 61:1-8 (2020)
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