Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.
Nature Neuroscience
Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA
Publication Date: 2016-11
Variant appearance in text: SEMA7A: 507C>A; Tyr169*
CSK regulatory polymorphism is associated with systemic lupus erythematosus and influences B-cell signaling and activation.
Nature Genetics
Manjarrez-Orduño, Nataly N; Marasco, Emiliano E; Chung, Sharon A SA; Katz, Matthew S MS; Kiridly, Jenna F JF; Simpfendorfer, Kim R KR; Freudenberg, Jan J; Ballard, David H DH; Nashi, Emil E; Hopkins, Thomas J TJ; Cunninghame Graham, Deborah S DS; Lee, Annette T AT; Coenen, Marieke J H MJ; Franke, Barbara B; Swinkels, Dorine W DW; Graham, Robert R RR; Kimberly, Robert P RP; Gaffney, Patrick M PM; Vyse, Timothy J TJ; Behrens, Timothy W TW; Criswell, Lindsey A LA; Diamond, Betty B; Gregersen, Peter K PK