Spielmann, Malte

The single-cell transcriptional landscape of mammalian organogenesis

Cao, J., Spielmann, M., Qiu, X., Huang, X., Ibrahim, D. M., Hill, A. J., Zhang, F., Mundlos, S., Christiansen, L., Steemers, F. J., et al. (2019) · Nature

Single-cell and spatial transcriptomicsDevelopmental Biology and Gene Regulation

Cited by 4,490

Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions

Lupiáñez, D. G., Kraft, K., Heinrich, V., Krawitz, P., Brancati, F., Klopocki, E., Horn, D., Kayserili, H., Opitz, J. M., Laxova, R., et al. (2015) · Cell

Genomics and Chromatin DynamicsGenomic variations and chromosomal abnormalities

Cited by 2,132

A human cell atlas of fetal gene expression

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. (2020) · Science

Single-cell and spatial transcriptomicsDevelopmental Biology and Gene Regulation

Cited by 764

Formation of new chromatin domains determines pathogenicity of genomic duplications

Franke, M., Ibrahim, D. M., Andrey, G., Schwarzer, W., Heinrich, V., Schöpflin, R., Kraft, K., Kempfer, R., Jerković, I., Chan, W.-L., et al. (2016) · Nature

Genomics and Chromatin DynamicsGenomic variations and chromosomal abnormalities

Cited by 673

Single-cell sequencing of human midbrain reveals glial activation and a Parkinson-specific neuronal state

Smajić, S., Prada-Medina, C. A., Landoulsi, Z., Ghelfi, J., Delcambre, S., Dietrich, C., Jarazo, J., Henck, J., Balachandran, S., Pachchek, S., et al. (2022) · Brain

Parkinson's Disease Mechanisms and TreatmentsNeuroinflammation and Neurodegeneration Mechanisms

Cited by 590

Breaking TADs: How Alterations of Chromatin Domains Result in Disease

Lupiáñez, D. G., Spielmann, M., & Mundlos, S. (2016) · Trends in Genetics

Genomics and Chromatin DynamicsChromatin Remodeling and Cancer

Cited by 439

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease

Smedley, D., Schubach, M., Jacobsen, J. O. B., Köhler, S., Zemojtel, T., Spielmann, M., Jäger, M., Hochheiser, H., Washington, N. L., McMurry, J. A., et al. (2016) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 283

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

Hsieh, T.-C., Bar-Haim, A., Moosa, S., Ehmke, N., Gripp, K. W., Pantel, J. T., Danyel, M., Mensah, M. A., Horn, D., Rosnev, S., et al. (2022) · Nature Genetics

Genomics and Rare DiseasesFace recognition and analysis

Cited by 233

Deletions of chromosomal regulatory boundaries are associated with congenital disease

Ibn-Salem, J., Köhler, S., Love, M. I., Chung, H.-R., Huang, N., Hurles, M. E., Haendel, M., Washington, N. L., Smedley, D., Mungall, C. J., et al. (2014) · Genome Biology

Genomic variations and chromosomal abnormalitiesGenomics and Chromatin Dynamics

Cited by 143