Rüschendorf, Franz

Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology

23andMe Research Team, Ferreira, M. A., collaborators, A., BIOS consortium, Study, L. C., Vonk, J. M., Baurecht, H., Marenholz, I., Tian, C., Hoffman, J. D., et al. (2017) · Nature Genetics

Asthma and respiratory diseasesGenetic Associations and Epidemiology

Cited by 550

Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2

Metherell, L. A., Chapple, J. P., Cooray, S., David, A., Becker, C., Rüschendorf, F., Naville, D., Begeot, M., Khoo, B., Nürnberg, P., et al. (2005) · Nature Genetics

Adrenal Hormones and DisordersStress Responses and Cortisol

Cited by 437

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy

Janecke, A. R., Thompson, D. A., Utermann, G., Becker, C., Hübner, C. A., Schmid, E., McHenry, C. L., Nair, A. R., Rüschendorf, F., Heckenlively, J., et al. (2004) · Nature Genetics

Retinal Development and DisordersRetinal Diseases and Treatments

Cited by 246

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

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

Baumann, M., Giunta, C., Krabichler, B., Rüschendorf, F., Zoppi, N., Colombi, M., Bittner, R. E., Quijano-Roy, S., Muntoni, F., Cirak, S., et al. (2012) · The American Journal of Human Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 162

A functional IL-6 receptor (IL6R) variant is a risk factor for persistent atopic dermatitis

Esparza-Gordillo, J., Schaarschmidt, H., Liang, L., Cookson, W., Bauerfeind, A., Lee-Kirsch, M.-A., Nemat, K., Henderson, J., Paternoster, L., Harper, J. I., et al. (2013) · Journal of Allergy and Clinical Immunology

Dermatology and Skin DiseasesAsthma and respiratory diseases

Cited by 107