Graf, Elisabeth

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

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Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

Freischmidt, A., Wieland, T., Richter, B., Ruf, W., Schaeffer, V., Müller, K., Marroquin, N., Nordin, F., Hübers, A., Weydt, P., et al. (2015) · Nature Neuroscience

Amyotrophic Lateral Sclerosis ResearchHereditary Neurological Disorders

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An atlas of the aging lung mapped by single cell transcriptomics and deep tissue proteomics

Angelidis, I., Simon, L. M., Fernandez, I. E., Strunz, M., Mayr, C. H., Greiffo, F. R., Tsitsiridis, G., Ansari, M., Graf, E., Strom, T.-M., et al. (2019) · Nature Communications

Single-cell and spatial transcriptomicsGenetics, Aging, and Longevity in Model Organisms

Cited by 637

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

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

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

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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

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Functional identity of hypothalamic melanocortin neurons depends on Tbx3

Quarta, C., Fisette, A., Xu, Y., Colldén, G., Legutko, B., Tseng, Y.-T., Reim, A., Wierer, M., De Rosa, M. C., Klaus, V., et al. (2019) · Nature Metabolism

Regulation of Appetite and ObesityHypothalamic control of reproductive hormones

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