Sudbrak, Ralf

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 DNA sequence of the human X chromosome

Ross, M. T., Grafham, D. V., Coffey, A. J., Scherer, S., McLay, K., Muzny, D., Platzer, M., Howell, G. R., Burrows, C., Bird, C. P., et al. (2005) · Nature

Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesChromosomal and Genetic Variations

Cited by 1,129

Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca2+ pump

Sudbrak, R. (2000) · Human Molecular Genetics

Genetic and rare skin diseases.Skin and Cellular Biology Research

Cited by 321

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

An Index of Barriers for the Implementation of Personalised Medicine and Pharmacogenomics in Europe

Horgan, D., Jansen, M., Leyens, L., Lal, J. A., Sudbrak, R., Hackenitz, E., Bußhoff, U., Ballensiefen, W., & Brand, A. (2014) · Public Health Genomics

Pharmacogenetics and Drug MetabolismHealth Policy Implementation Science

Cited by 91

Public Health Perspective: From Personalized Medicine to Personal Health

Cesuroglu, T., van Ommen, B., Malats, N., Sudbrak, R., Lehrach, H., & Brand, A. (2012) · Personalized Medicine

Technology and Human Factors in Education and HealthScience, Research, and Medicine

Cited by 23