Alexandros Onoufriadis

Mutations in IL36RN/IL1F5 Are Associated with the Severe Episodic Inflammatory Skin Disease Known as Generalized Pustular Psoriasis

Alexandros Onoufriadis, Michael A. Simpson, Andrew Pink et al. · The American Journal of Human Genetics · 2011 · 521 citations · Full text

Inflammation, Rheumatology, Autoimmune Disease +8

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 · 374 citations · Full text

The UK10K project identifies rare variants in health and disease

Klaudia Walter, Josine L. Min, Jie Huang et al. · Kölner Universitäts PublikationsServer (Universität zu Köln) · 2015 · 299 citations · Full text

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 · 295 citations · Full text

Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia

Alexandros Onoufriadis, Tamara Paff, Dinu Antony et al. · The American Journal of Human Genetics · 2012 · 191 citations · Full text