Malte  Spielmann
Malte Spielmann
Dept. of Genome Sciences University of Washington
Verified email at uw.edu
Title
Cited by
Cited by
Year
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
13512015
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
6332019
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
4222016
Breaking TADs: how alterations of chromatin domains result in disease
DG Lupiáñez, M Spielmann, S Mundlos
Trends in Genetics 32 (4), 225-237, 2016
3072016
Structural variation in the 3D genome
M Spielmann, DG Lupiáñez, S Mundlos
Nature Reviews Genetics 19 (7), 453-467, 2018
2492018
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
2032014
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
1702015
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
1582016
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
1402015
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
1322009
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), 1-8, 2008
1302008
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), 1-16, 2014
1262014
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
1092012
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
1072015
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
952016
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
832018
Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip±cleft palate and cleft palate only
KU Ludwig, AC Böhmer, J Bowes, M Nikolić, N Ishorst, N Wyatt, ...
Human molecular genetics 26 (4), 829-842, 2017
662017
A human cell atlas of fetal gene expression
J Cao, DR O’Day, HA Pliner, PD Kingsley, M Deng, RM Daza, MA Zager, ...
Science 370 (6518), 2020
652020
Structural variations, the regulatory landscape of the genome and their alteration in human disease
M Spielmann, S Mundlos
Bioessays 35 (6), 533-543, 2013
632013
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
592014
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