Miriam Schmidts

The UK10K project identifies rare variants in health and disease

Josine L. Min, Jie Huang, Yasin Memari et al. · Nature · 2015 · 1.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Nephrin and CD2AP Associate with Phosphoinositide 3-OH Kinase and Stimulate AKT-Dependent Signaling

Tobias B. Huber, Bjürn Hartleben, Jeong Hun Kim et al. · Molecular and Cellular Biology · 2003 · 406 citations · Full text

Life Sciences, Molecular Biology, Nephrology +17

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Jie Huang, Bryan Howie, Shane McCarthy et al. · Nature Communications · 2015 · 385 citations · Full text

Public Health, Genetics, Molecular Genetics +17

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

Anne‐Christine Merveille, Erica E. Davis, Anita Becker-Heck et al. · Nature Genetics · 2010 · 345 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +9

Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry

Heike Olbrich, Miriam Schmidts, Claudius Werner et al. · The American Journal of Human Genetics · 2012 · 300 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15