Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.
Nature Genetics
Robertson, Catherine C CC; Inshaw, Jamie R J JRJ; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Santa Cruz, David Flores DF; Yang, Hanzhi H; Cutler, Antony J AJ; Crouch, Daniel J M DJM; Farber, Emily E; Bridges, S Louis SL; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Buckner, Jane H JH; Deloukas, Panos P; Divers, Jasmin J; Dabelea, Dana D; Lawrence, Jean M JM; Marcovina, Santica S; Shah, Amy S AS; Greenbaum, Carla J CJ; Atkinson, Mark A MA; Gregersen, Peter K PK; Oksenberg, Jorge R JR; Pociot, Flemming F; Rewers, Marian J MJ; Steck, Andrea K AK; Dunger, David B DB; , ; Wicker, Linda S LS; Concannon, Patrick P; Todd, John A JA; Rich, Stephen S SS
Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.
Nature Genetics
Robertson, Catherine C CC; Inshaw, Jamie R J JRJ; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Santa Cruz, David Flores DF; Yang, Hanzhi H; Cutler, Antony J AJ; Crouch, Daniel J M DJM; Farber, Emily E; Bridges, S Louis SL; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Buckner, Jane H JH; Deloukas, Panos P; Divers, Jasmin J; Dabelea, Dana D; Lawrence, Jean M JM; Marcovina, Santica S; Shah, Amy S AS; Greenbaum, Carla J CJ; Atkinson, Mark A MA; Gregersen, Peter K PK; Oksenberg, Jorge R JR; Pociot, Flemming F; Rewers, Marian J MJ; Steck, Andrea K AK; Dunger, David B DB; , ; Wicker, Linda S LS; Concannon, Patrick P; Todd, John A JA; Rich, Stephen S SS
Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.
Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Genetic analysis of hsCRP in American Indians: The Strong Heart Family Study.
Plos One
Best, Lyle G LG; Balakrishnan, Poojitha P; Cole, Shelley A SA; Haack, Karin K; Kocarnik, Jonathan M JM; Pankratz, Nathan N; Anderson, Matthew Z MZ; Franceschini, Nora N; Howard, Barbara V BV; Lee, Elisa T ET; North, Kari E KE; Umans, Jason G JG; Yracheta, Joseph M JM; Navas-Acien, Ana A; Voruganti, V Saroja VS
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Population-Wide Genetic Risk Prediction of Complex Diseases: A Pilot Feasibility Study in Macau Population for Precision Public Healthcare Planning.
Scientific Reports
Tsui, Nancy B Y NBY; Cheng, Gregory G; Chung, Teresa T; Lam, Christopher W K CWK; Yee, Anita A; Chung, Peter K C PKC; Kwan, Tsz-Ki TK; Ko, Elaine E; He, Daihai D; Wong, Wing-Tak WT; Lau, Johnson Y N JYN; Lau, Lok Ting LT; Fok, Manson M
Associations between SNPs and immune-related circulating proteins in schizophrenia.
Scientific Reports
Chan, Man K MK; Cooper, Jason D JD; Heilmann-Heimbach, Stefanie S; Frank, Josef J; Witt, Stephanie H SH; Nöthen, Markus M MM; Steiner, Johann J; Rietschel, Marcella M; Bahn, Sabine S
Inherited Variation in Cytokine, Acute Phase Response, and Calcium Metabolism Genes Affects Susceptibility to Infective Endocarditis.
Mediators Of Inflammation
Ponasenko, Anastasia V AV; Kutikhin, Anton G AG; Khutornaya, Maria V MV; Rutkovskaya, Natalia V NV; Kondyukova, Natalia V NV; Odarenko, Yuri N YN; Kazachek, Yana V YV; Tsepokina, Anna V AV; Barbarash, Leonid S LS; Yuzhalin, Arseniy E AE
Transcriptional networks specifying homeostatic and inflammatory programs of gene expression in human aortic endothelial cells.
Elife
Hogan, Nicholas T NT; Whalen, Michael B MB; Stolze, Lindsey K LK; Hadeli, Nizar K NK; Lam, Michael T MT; Springstead, James R JR; Glass, Christopher K CK; Romanoski, Casey E CE
A Genomics-Based Model for Prediction of Severe Bioprosthetic Mitral Valve Calcification.
International Journal Of Molecular Sciences
Ponasenko, Anastasia V AV; Khutornaya, Maria V MV; Kutikhin, Anton G AG; Rutkovskaya, Natalia V NV; Tsepokina, Anna V AV; Kondyukova, Natalia V NV; Yuzhalin, Arseniy E AE; Barbarash, Leonid S LS
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Genome-wide association study of CSF levels of 59 alzheimer's disease candidate proteins: significant associations with proteins involved in amyloid processing and inflammation.
Plos Genetics
Kauwe, John S K JS; Bailey, Matthew H MH; Ridge, Perry G PG; Perry, Rachel R; Wadsworth, Mark E ME; Hoyt, Kaitlyn L KL; Staley, Lyndsay A LA; Karch, Celeste M CM; Harari, Oscar O; Cruchaga, Carlos C; Ainscough, Benjamin J BJ; Bales, Kelly K; Pickering, Eve H EH; Bertelsen, Sarah S; , ; Fagan, Anne M AM; Holtzman, David M DM; Morris, John C JC; Goate, Alison M AM
Genetic variants in interleukin genes are associated with breast cancer risk and survival in a genetically admixed population: the Breast Cancer Health Disparities Study.
Carcinogenesis
Slattery, Martha L ML; Herrick, Jennifer S JS; Torres-Mejia, Gabriella G; John, Esther M EM; Giuliano, Anna R AR; Hines, Lisa M LM; Stern, Mariana C MC; Baumgartner, Kathy B KB; Presson, Angela P AP; Wolff, Roger K RK
The role of inflammatory pathway genetic variation on maternal metabolic phenotypes during pregnancy.
Plos One
Urbanek, Margrit M; Hayes, M Geoffrey MG; Lee, Hoon H; Freathy, Rachel M RM; Lowe, Lynn P LP; Ackerman, Christine C; Jafari, Nadereh N; Dyer, Alan R AR; Cox, Nancy J NJ; Dunger, David B DB; Hattersley, Andrew T AT; Metzger, Boyd E BE; Lowe, William L WL
Multigenic control of measles vaccine immunity mediated by polymorphisms in measles receptor, innate pathway, and cytokine genes.
Vaccine
Kennedy, Richard B RB; Ovsyannikova, Inna G IG; Haralambieva, Iana H IH; O'Byrne, Megan M MM; Jacobson, Robert M RM; Pankratz, V Shane VS; Poland, Gregory A GA
Inflammation and stress-related candidate genes, plasma interleukin-6 levels, and longevity in older adults.
Experimental Gerontology
Walston, Jeremy D JD; Matteini, Amy M AM; Nievergelt, Caroline C; Lange, Leslie A LA; Fallin, Dani M DM; Barzilai, Nir N; Ziv, Elad E; Pawlikowska, Ludmila L; Kwok, Pui P; Cummings, Steve R SR; Kooperberg, Charles C; LaCroix, Andrea A; Tracy, Russell P RP; Atzmon, Gil G; Lange, Ethan M EM; Reiner, Alex P AP
A common variant of the interleukin 6 receptor (IL-6r) gene increases IL-6r and IL-6 levels, without other inflammatory effects.
Genes And Immunity
Rafiq, S S; Frayling, T M TM; Murray, A A; Hurst, A A; Stevens, K K; Weedon, M N MN; Henley, W W; Ferrucci, L L; Bandinelli, S S; Corsi, A-M AM; Guralnik, J M JM; Melzer, D D