Publikationen von M. Spielmann

J. Ibn-Salem, S. Köhler, M. I. Love, H.-R. Chung, N. Huang, M. E. Hurles, M. Haendel, N. L. Washington, D. Smedley, C. J. Mungall, S. E. Lewis, C. E. Ott, S. Bauer, P. N. Schofield, S. Mundlos, M. Spielmann, and P. N. Robinson, "Deletions of chromosomal regulatory boundaries are associated with congenital disease," Genome Biology: Biology for the Post-Genomic Era 15, 15:423 (2014).

T. Zemojtel, S. Köhler, L. Mackenroth, M. Jäger, J. Hecht, P. Krawitz, L. Graul-Neumann, S. Doelken, N. Ehmke, M. Spielmann, N. C. Oien, M. R. Schweiger, U. Krüger, G. Frommer, B. Fischer, U. Kornak, R. Flöttmann, A. Ardeshirdavani, Y. Moreau, S. E. Lewis, M. Haendel, D. Smedley, D. Horn, S. Mundlos, and P. N. Robinson, "Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome," Science Translational Madicine 6 (252), 252ra123 (2014).

N. Tayebi, A. Jamsheer, R. Flöttmann, A. Sowinska-Seidler, S. C. Doelken, B. Oehl-Jaschkowitz, W. Hülsemann, R. Habenicht, E. Klopocki, S. Mundlos, and M. Spielmann, "Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families," Orphanet Journal of Rare Diseases 2014, 9:108 (2014).

M. Spielmann, F. Brancati, P. M. Krawitz, P. N. Robinson, D. M. Ibrahim, M. Franke, J. Hecht, S. Lohan, K. Dathe, A. M. Nardone, P. Ferrari, A. Landi, L. Wittler, B. Timmermann, D. Chan, U. Mennen, E. Klopocki, and S. Mundlos, "Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus," American Journal of Human Genetics 91 (4), 629-635 (2012).

M. Spielmann, G. Reichelt, C. Hertzberg, M. Trimborn, S. Mundlos, D. Horn, and E. Klopocki, "Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings," Eur J Med Genet 54 (4), e441-5 (2011).

Marius-Konstantin Klever, Eric Sträng, Julius Jungnitsch, Uirá Souto Melo, Sara Hetzel, Anna Dolnik, Robert Schöpflin, Jens F. Schrezenmeier, Olga Blau, Jörg Westermann, Konstanze Döhner, Hubert Schrezenmeier, Malte Spielmann, Alexander Meissner, Stefan Mundlos, and Lars Bullinger, "Integration of Hi-C and Nanopore Sequencing for Structural Variant Analysis in AML with a Complex Karyotype: (Chromothripsis)²", in Blood, (American Society of Hematology, Washington, DC, 2020), Vol. 136.

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