Malte  Spielmann
Malte Spielmann
Dept. of Genome Sciences University of Washington
Adresse e-mail validée de uw.edu
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Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions
DG Lupiáñez, K Kraft, V Heinrich, P Krawitz, F Brancati, E Klopocki, ...
Cell 161 (5), 1012-1025, 2015
9982015
Formation of new chromatin domains determines pathogenicity of genomic duplications
M Franke, DM Ibrahim, G Andrey, W Schwarzer, V Heinrich, R Schöpflin, ...
Nature 538 (7624), 265-269, 2016
3142016
Breaking TADs: how alterations of chromatin domains result in disease
DG Lupiáñez, M Spielmann, S Mundlos
Trends in Genetics 32 (4), 225-237, 2016
2172016
The single-cell transcriptional landscape of mammalian organogenesis
J Cao, M Spielmann, X Qiu, X Huang, DM Ibrahim, AJ Hill, F Zhang, ...
Nature 566 (7745), 496-502, 2019
1842019
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome
T Zemojtel, S Köhler, L Mackenroth, M Jäger, J Hecht, P Krawitz, ...
Science translational medicine 6 (252), 252ra123-252ra123, 2014
1832014
Deletions, inversions, duplications: engineering of structural variants using CRISPR/Cas in mice
K Kraft, S Geuer, AJ Will, WL Chan, C Paliou, M Borschiwer, I Harabula, ...
Cell reports 10 (5), 833-839, 2015
1422015
Structural variation in the 3D genome
M Spielmann, DG Lupiáñez, S Mundlos
Nature Reviews Genetics 19 (7), 453-467, 2018
1352018
A whole-genome analysis framework for effective identification of pathogenic regulatory variants in Mendelian disease
D Smedley, M Schubach, JOB Jacobsen, S Köhler, T Zemojtel, ...
The American Journal of Human Genetics 99 (3), 595-606, 2016
1302016
Human beta‐defensin‐3 promotes wound healing in infected diabetic wounds
T Hirsch, M Spielmann, B Zuhaili, M Fossum, M Metzig, T Koehler, ...
The Journal of Gene Medicine: A cross‐disciplinary journal for research on …, 2009
1192009
Comparison of exome and genome sequencing technologies for the complete capture of protein‐coding regions
SH Lelieveld, M Spielmann, S Mundlos, JA Veltman, C Gilissen
Human mutation 36 (8), 815-822, 2015
1142015
Enhanced susceptibility to infections in a diabetic wound healing model
T Hirsch, M Spielmann, B Zuhaili, T Koehler, M Fossum, HU Steinau, ...
BMC surgery 8 (1), 5, 2008
1102008
Deletions of chromosomal regulatory boundaries are associated with congenital disease
J Ibn-Salem, S Köhler, MI Love, HR Chung, N Huang, ME Hurles, ...
Genome biology 15 (9), 423, 2014
1052014
Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus
M Spielmann, F Brancati, PM Krawitz, PN Robinson, DM Ibrahim, ...
The American Journal of Human Genetics 91 (4), 629-635, 2012
942012
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)
E Giorgio, D Robyr, M Spielmann, E Ferrero, E Di Gregorio, D Imperiale, ...
Human molecular genetics 24 (11), 3143-3154, 2015
932015
Looking beyond the genes: the role of non-coding variants in human disease
M Spielmann, S Mundlos
Human molecular genetics 25 (R2), R157-R165, 2016
662016
Characterization of hundreds of regulatory landscapes in developing limbs reveals two regimes of chromatin folding
G Andrey, R Schöpflin, I Jerković, V Heinrich, DM Ibrahim, C Paliou, ...
Genome research 27 (2), 223-233, 2017
622017
Structural variations, the regulatory landscape of the genome and their alteration in human disease
M Spielmann, S Mundlos
Bioessays 35 (6), 533-543, 2013
542013
CNVs of noncoding cis-regulatory elements in human disease
M Spielmann, E Klopocki
Current opinion in genetics & development 23 (3), 249-256, 2013
502013
Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis
BK Kragesteen, M Spielmann, C Paliou, V Heinrich, R Schöpflin, ...
Nature genetics 50 (10), 1463-1473, 2018
492018
Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas‐type polysyndactyly and Laurin‐Sandrow syndrome
S Lohan, M Spielmann, SC Doelken, R Flöttmann, F Muhammad, ...
Clinical Genetics 86 (4), 318-325, 2014
482014
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