Schwarzmayr, Thomas

Transcriptome and genome sequencing uncovers functional variation in humans

The Geuvadis Consortium, Lappalainen, T., Sammeth, M., Friedländer, M. R., ‘t Hoen, P. A. C., Monlong, J., Rivas, M. A., Gonzàlez-Porta, M., Kurbatova, N., Griebel, T., et al. (2013) · Nature

Genetic Associations and EpidemiologyRNA Research and Splicing

Cited by 1,888

The genetic architecture of type 2 diabetes

Fuchsberger, C., Flannick, J., Teslovich, T. M., Mahajan, A., Agarwala, V., Gaulton, K. J., Ma, C., Fontanillas, P., Moutsianas, L., McCarthy, D. J., et al. (2016) · Nature

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 1,051

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Rauch, A., Wieczorek, D., Graf, E., Wieland, T., Endele, S., Schwarzmayr, T., Albrecht, B., Bartholdi, D., Beygo, J., Di Donato, N., et al. (2012) · The Lancet

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 1,041

Genetic diagnosis of Mendelian disorders via RNA sequencing

Kremer, L. S., Bader, D. M., Mertes, C., Kopajtich, R., Pichler, G., Iuso, A., Haack, T. B., Graf, E., Schwarzmayr, T., Terrile, C., et al. (2017) · Nature Communications

Genomics and Rare DiseasesMitochondrial Function and Pathology

Cited by 590

Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension

Beuschlein, F., Boulkroun, S., Osswald, A., Wieland, T., Nielsen, H. N., Lichtenauer, U. D., Penton, D., Schack, V. R., Amar, L., Fischer, E., et al. (2013) · Nature Genetics

Hormonal Regulation and HypertensionAdrenal and Paraganglionic Tumors

Cited by 577

Constitutive activation of PKA catalytic subunit in adrenal Cushing’s syndrome

Beuschlein, F., Fassnacht, M., Assié, G., Calebiro, D., Stratakis, C. A., Osswald, A., Ronchi, C. L., Wieland, T., Sbiera, S., Faucz, F. R., et al. (2014) · New England Journal of Medicine

Adrenal and Paraganglionic TumorsAdrenal Hormones and Disorders

Cited by 443

Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

Haack, T. B., Hogarth, P., Kruer, M. C., Gregory, A., Wieland, T., Schwarzmayr, T., Graf, E., Sanford, L., Meyer, E., Kara, E., et al. (2012) · The American Journal of Human Genetics

Neurological diseases and metabolismIron Metabolism and Disorders

Cited by 360

Effect of predicted protein-truncating genetic variants on the human transcriptome

Rivas, M. A., Pirinen, M., Conrad, D. F., Lek, M., Tsang, E. K., Karczewski, K. J., Maller, J. B., Kukurba, K. R., DeLuca, D. S., Fromer, M., et al. (2015) · Science

Genomics and Rare DiseasesRNA Research and Splicing

Cited by 313

Time- and compartment-resolved proteome profiling of the extracellular niche in lung injury and repair

Schiller, H. B., Fernandez, I. E., Burgstaller, G., Schaab, C., Scheltema, R. A., Schwarzmayr, T., Strom, T. M., Eickelberg, O., & Mann, M. (2015) · Molecular Systems Biology

Interstitial Lung Diseases and Idiopathic Pulmonary FibrosisAdvanced Proteomics Techniques and Applications

Cited by 261

Epstein–Barr virus reprograms human B lymphocytes immediately in the prelatent phase of infection

Mrozek-Gorska, P., Buschle, A., Pich, D., Schwarzmayr, T., Fechtner, R., Scialdone, A., & Hammerschmidt, W. (2019) · Proceedings of the National Academy of Sciences

Viral-associated cancers and disordersCytomegalovirus and herpesvirus research

Cited by 210

Intermuscular adipose tissue directly modulates skeletal muscle insulin sensitivity in humans

Sachs, S., Zarini, S., Kahn, D. E., Harrison, K. A., Perreault, L., Phang, T., Newsom, S. A., Strauss, A., Kerege, A., Schoen, J. A., et al. (2019) · American Journal of Physiology-Endocrinology and Metabolism

Adipokines, Inflammation, and Metabolic DiseasesAdipose Tissue and Metabolism

Cited by 192

Long-Term Cold Adaptation Does Not Require FGF21 or UCP1

Keipert, S., Kutschke, M., Ost, M., Schwarzmayr, T., van Schothorst, E. M., Lamp, D., Brachthäuser, L., Hamp, I., Mazibuko, S. E., Hartwig, S., et al. (2017) · Cell Metabolism

Adipose Tissue and MetabolismFibroblast Growth Factor Research

Cited by 122

Genetic landscape of sporadic unilateral adrenocortical adenomas without PRKACA p.Leu206Arg mutation

Ronchi, C. L., Di Dalmazi, G., Faillot, S., Sbiera, S., Assié, G., Weigand, I., Calebiro, D., Schwarzmayr, T., Appenzeller, S., Rubin, B., et al. (2016) · The Journal of Clinical Endocrinology & Metabolism

Adrenal and Paraganglionic TumorsAdrenal Hormones and Disorders

Cited by 93

A macrophage-hepatocyte glucocorticoid receptor axis coordinates fasting ketogenesis

Loft, A., Schmidt, S. F., Caratti, G., Stifel, U., Havelund, J., Sekar, R., Kwon, Y., Sulaj, A., Chow, K. K., Alfaro, A. J., et al. (2022) · Cell Metabolism

Dietary Effects on HealthPeroxisome Proliferator-Activated Receptors

Cited by 76