Schmidts, Miriam

The UK10K project identifies rare variants in health and disease

The UK10K Consortium, Writing group, Walter, K., Min, J. L., Huang, J., Crooks, L., Memari, Y., McCarthy, S., Perry, J. R. B., Xu, C., et al. (2015) · Nature

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 1,040

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Boldt, K., van Reeuwijk, J., Lu, Q., Koutroumpas, K., Nguyen, T.-M. T., Texier, Y., van Beersum, S. E. C., Horn, N., Willer, J. R., Mans, D. A., et al. (2016) · Nature Communications

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 240

Whole-genome sequence-based analysis of thyroid function

Taylor, P. N., Porcu, E., Chew, S., Campbell, P. J., Traglia, M., Brown, S. J., Mullin, B. H., Shihab, H. A., Min, J., Walter, K., et al. (2015) · Nature Communications

Genetic Associations and EpidemiologyThyroid Disorders and Treatments

Cited by 104

HEATR2 Plays a Conserved Role in Assembly of the Ciliary Motile Apparatus

Diggle, C. P., Moore, D. J., Mali, G., zur Lage, P., Ait-Lounis, A., Schmidts, M., Shoemark, A., Garcia Munoz, A., Halachev, M. R., Gautier, P., et al. (2014) · PLoS Genetics

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 67

Role of the polarity protein Scribble for podocyte differentiation and maintenance

Hartleben, B., Widmeier, E., Wanner, N., Schmidts, M., Kim, S. T., Schneider, L., Mayer, B., Kerjaschki, D., Miner, J. H., Walz, G., et al. (2012) · PLoS ONE

Renal Diseases and GlomerulopathiesRenal and related cancers

Cited by 52

Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism

Cheng, Y., Schlosser, P., Hertel, J., Sekula, P., Oefner, P. J., Spiekerkoetter, U., Mielke, J., Freitag, D. F., Schmidts, M., GCKD Investigators, et al. (2021) · Nature Communications

Metabolism and Genetic DisordersGenomics and Rare Diseases

Cited by 37