Alexandros Onoufriadis

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

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 · 525 citations · Full text

Medicine, Dermatology, Immunology +14

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

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

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

Life Sciences, Genetics, Molecular Genetics +17