Mofareh AlZahrani

Biallelic <i>RIPK1</i> mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation

Delphine Cuchet-Lourenço, Davide Eletto, Changxin Wu et al. · Science · 2018 · 233 citations · Full text

Inherited IL-12p40 Deficiency

Carolina Prando, Arina Samarina, Jacinta Bustamante et al. · Medicine · 2013 · 163 citations · Full text

Bcg Vaccination, Immunodeficiencies, Il-12p40 Deficiency +20

Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases

Hamoud Al‐Mousa, Mohamed Abouelhoda, Dorota Monies et al. · Journal of Allergy and Clinical Immunology · 2016 · 115 citations

Primary Immunodeficiency, Sequencing, Engineering +13

Dominant-negative STAT1 SH2 domain mutations in unrelated patients with mendelian susceptibility to mycobacterial disease

Miyuki Tsumura, Satoshi Okada, Hidemasa Sakai et al. · Human Mutation · 2012 · 84 citations · Full text

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Peer Arts, Annet Simons, Mofareh AlZahrani et al. · Genome Medicine · 2019 · 84 citations · Full text