Yan Huang

MapSplice: Accurate mapping of RNA-seq reads for splice junction discovery

Kai Wang, Darshan Singh, Zheng Zeng et al. · Nucleic Acids Research · 2010 · 1.2K citations · Full text

An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome

Scott Canna, Adriana A. de Jesus, Sushanth Gouni et al. · Nature Genetics · 2014 · 725 citations · Full text

Inflammation, Immune Cell Development, Medicine +10

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production

Anja Brehm, Yin Liu, Afzal Sheikh et al. · Journal of Clinical Investigation · 2015 · 330 citations · Full text

Genetics, Immunodeficiencies, Immunology +26

NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules

Meral Gunay‐Aygun, Tzipora C. Falik‐Zaccai, Thierry Vilboux et al. · Nature Genetics · 2011 · 255 citations · Full text

Blood Platelet, Genetics, Pathogenesis +8

Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases

Adriana A. de Jesus, Yangfeng Hou, Stephen R. Brooks et al. · Journal of Clinical Investigation · 2019 · 227 citations · Full text

Inflammatory Lung Disease, Chronic Interferon, Lung Inflammation +22