Saeed Al Turki

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

Qian Zhang, Paul Bastard, Zhiyong Liu et al. · Science · 2020 · 2.4K citations · Full text

Human Loci, Disease Susceptibility, Inborn Errors +14

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wüster, Sarah Lindsay et al. · Nature Genetics · 2015 · 704 citations · Full text

Somatic Variant, Genetic Disorder, Genetics +3

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