Publications

Journal Article (12)

1.
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)
2.
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)
3.
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)
4.
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)
5.
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)
6.
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)
7.
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)
8.
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)
9.
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)
10.
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)
11.
Journal Article
Sivkina, A. L.; Karlova, M. G.; Valieva, M. E.; McCullough, L. L.; Formosa, T.; Shaytan, A. K.; Feofanov, A. V.; Kirpichnikov, M. P.; Sokolova, O. S.; Studitsky, V. M.: Electron microscopy analysis of ATP-independent nucleosome unfolding by FACT. Communications Biology 5 (1), 2 (2022)
12.
Journal Article
Gjaltema, R.; Schwämmle, T.; Kautz, P.; Robson, M.; Schöpflin, R.; Lustig, L. R.; Brandenburg, L.; Dunkel, I.; Vechiatto, C.; Ntini, E. et al.; Mutzel, V.; Schmiedel, V.; Marsico, A.; Mundlos, S.; Schulz, E. G.: Distal and proximal cis-regulatory elements sense X chromosome dosage and developmental state at the Xist locus. Molecular Cell 82, pp. 1 - 19 (2022)

Manuscript (2)

13.
Manuscript
May, V.; Koch, L.; Fischer-Zirnsak, B.; Horn, D.; Gehle , P.; Kornak, U.; Beule, D.; Holtgrewe, M.: ClearCNV: CNV calling from NGS panel data in the presence of ambiguity and noise. Bioinformatics 2022, btac418 (2022)
14.
Manuscript
Oheim, R.; Tsourdi , E.; Seefried , L.; Beller , G.; Schubach , M.; Vettorazzi , E.; Stürznickel, J.; Rolvien , T.; Ehmke , N.; Delsmann , A. et al.; Genest, F.; Krüger, U.; Zemojtel , T.; Barvencik , F.; Schinke , T.; Jakob, F.; Hofbauer, L. C.; Mundlos, S.; Kornak, U.: Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders. Journal of Clinical Endocrinology and Metabolism, dgac147 (2022)

Preprint (1)

15.
Preprint
Cova, G.; Glaser, J.; Schöpflin, R.; Ali, S.; Prada-Medina, C. A.; Franke, M.; Falcone, R.; Federer, M.; Ponzi, E.; Ficarella, R. et al.; Novara, F.; Wittler, L.; Timmermann, B.; Gentile, M.; Zuffardi, O.; Spielmann, M.; Mundlos, S.: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve Split-Hand/Foot Malformation type 3. (2022)
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