Mundlos, Stefan

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

The human phenotype ontology: a tool for annotating and analyzing human hereditary disease

Robinson, P. N., Köhler, S., Bauer, S., Seelow, D., Horn, D., & Mundlos, S. (2008) · The American Journal of Human Genetics

Biomedical Text Mining and OntologiesGenomics and Rare Diseases

Cited by 1,034

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

A High-Resolution Anatomical Atlas of the Transcriptome in the Mouse Embryo

Diez-Roux, G., Banfi, S., Sultan, M., Geffers, L., Anand, S., Rozado, D., Magen, A., Canidio, E., Pagani, M., Peluso, I., et al. (2011) · PLoS Biology

Developmental Biology and Gene RegulationSingle-cell and spatial transcriptomics

Cited by 638

Nosology and classification of genetic skeletal disorders: 2019 revision

Mortier, G. R., Cohn, D. H., Cormier‐Daire, V., Hall, C., Krakow, D., Mundlos, S., Nishimura, G., Robertson, S., Sangiorgi, L., Savarirayan, R., et al. (2019) · American Journal of Medical Genetics Part A

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 600

Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies

Köhler, S., Schulz, M. H., Krawitz, P., Bauer, S., Dölken, S., Ott, C. E., Mundlos, C., Horn, D., Mundlos, S., & Robinson, P. N. (2009) · The American Journal of Human Genetics

Biomedical Text Mining and OntologiesGenomics and Rare Diseases

Cited by 590

Nosology and classification of genetic skeletal disorders: 2015 revision

Bonafe, L., Cormier‐Daire, V., Hall, C., Lachman, R., Mortier, G., Mundlos, S., Nishimura, G., Sangiorgi, L., Savarirayan, R., Sillence, D., et al. (2015) · American Journal of Medical Genetics Part A

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 569

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

Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome

Klopocki, E., Schulze, H., Strauß, G., Ott, C.-E., Hall, J., Trotier, F., Fleischhauer, S., Greenhalgh, L., Newbury-Ecob, R. A., Neumann, L. M., et al. (2007) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesCongenital limb and hand anomalies

Cited by 360

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

Loss of chondroitin 6- O -sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement

Thiele, H., Sakano, M., Kitagawa, H., Sugahara, K., Rajab, A., Höhne, W., Ritter, H., Leschik, G., Nürnberg, P., & Mundlos, S. (2004) · Proceedings of the National Academy of Sciences

Proteoglycans and glycosaminoglycans researchConnective tissue disorders research

Cited by 190

A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders

Gensure, R. C., Mäkitie, O., Barclay, C., Chan, C., DePalma, S. R., Bastepe, M., Abuzahra, H., Couper, R., Mundlos, S., Sillence, D., et al. (2005) · Journal of Clinical Investigation

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 172

PDE3A mutations cause autosomal dominant hypertension with brachydactyly

Maass, P. G., Aydin, A., Luft, F. C., Schächterle, C., Weise, A., Stricker, S., Lindschau, C., Vaegler, M., Qadri, F., Toka, H. R., et al. (2015) · Nature Genetics

Phosphodiesterase function and regulationBlood Pressure and Hypertension Studies

Cited by 166

Preformed chromatin topology assists transcriptional robustness of Shh during limb development

Paliou, C., Guckelberger, P., Schöpflin, R., Heinrich, V., Esposito, A., Chiariello, A. M., Bianco, S., Annunziatella, C., Helmuth, J., Haas, S., et al. (2019) · Proceedings of the National Academy of Sciences

Genomics and Chromatin DynamicsChromatin Remodeling and Cancer

Cited by 163

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

Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3

Kornak, U., Mademan, I., Schinke, M., Voigt, M., Krawitz, P., Hecht, J., Barvencik, F., Schinke, T., Gießelmann, S., Beil, F. T., et al. (2014) · Brain

Hereditary Neurological DisordersCellular transport and secretion

Cited by 109

Copy-Number Variations Involving the IHH Locus Are Associated with Syndactyly and Craniosynostosis

Klopocki, E., Lohan, S., Brancati, F., Koll, R., Brehm, A., Seemann, P., Dathe, K., Stricker, S., Hecht, J., Bosse, K., et al. (2011) · The American Journal of Human Genetics

Congenital limb and hand anomaliesCraniofacial Disorders and Treatments

Cited by 104

Negative regulation of Wnt signaling mediated by CK1‐phosphorylated Dishevelled via Ror2

Witte, F., Bernatik, O., Kirchner, K., Masek, J., Mahl, A., Krejci, P., Mundlos, S., Schambony, A., Bryja, V., & Stricker, S. (2010) · The FASEB Journal

Wnt/β-catenin signaling in development and cancerDevelopmental Biology and Gene Regulation

Cited by 75

The mole genome reveals regulatory rearrangements associated with adaptive intersexuality

M. Real, F., Haas, S. A., Franchini, P., Xiong, P., Simakov, O., Kuhl, H., Schöpflin, R., Heller, D., Moeinzadeh, M.-H., Heinrich, V., et al. (2020) · Science

Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesSexual Differentiation and Disorders

Cited by 66

DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies

Sukalo, M., Tilsen, F., Kayserili, H., Müller, D., Tüysüz, B., Ruddy, D. M., Wakeling, E., Ørstavik, K. H., Snape, K. M., Trembath, R., et al. (2015) · Human Mutation

Congenital limb and hand anomaliesGenomics and Rare Diseases

Cited by 50

The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process

Heinrich, V., Stange, J., Dickhaus, T., Imkeller, P., Krüger, U., Bauer, S., Mundlos, S., Robinson, P. N., Hecht, J., & Krawitz, P. M. (2012) · Nucleic Acids Research

Genomics and Phylogenetic StudiesGenomics and Rare Diseases

Cited by 43