Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: HFE: 502G>T; Glu168Ter
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Bmc Medicine
Haverfield, Eden V EV; Esplin, Edward D ED; Aguilar, Sienna J SJ; Hatchell, Kathryn E KE; Ormond, Kelly E KE; Hanson-Kahn, Andrea A; Atwal, Paldeep S PS; Macklin-Mantia, Sarah S; Hines, Stephanie S; Sak, Caron W-M CW; Tucker, Steven S; Bleyl, Steven B SB; Hulick, Peter J PJ; Gordon, Ora K OK; Velsher, Lea L; Gu, Jessica Y J JYJ; Weissman, Scott M SM; Kruisselbrink, Teresa T; Abel, Christopher C; Kettles, Michele M; Slavotinek, Anne A; Mendelsohn, Bryce A BA; Green, Robert C RC; Aradhya, Swaroop S; Nussbaum, Robert L RL
Impact of HFE gene variants on iron overload, overall survival and leukemia-free survival in myelodysplastic syndromes.
American Journal Of Cancer Research
Schneeweiss-Gleixner, Mathias M; Greiner, Georg G; Herndlhofer, Susanne S; Schellnegger, Julia J; Krauth, Maria-Theresa MT; Gleixner, Karoline V KV; Wimazal, Friedrich F; Steinhauser, Corinna C; Kundi, Michael M; Thalhammer, Renate R; Schwarzinger, Ilse I; Hoermann, Gregor G; Esterbauer, Harald H; Födinger, Manuela M; Valent, Peter P; Sperr, Wolfgang R WR
Detection of a rare mutation in the ferroportin gene through targeted next generation sequencing.
Blood Transfusion = Trasfusione Del Sangue
Ferbo, Ludovica L; Manzini, Paola M PM; Badar, Sadaf S; Campostrini, Natascia N; Ferrarini, Alberto A; Delledonne, Massimo M; Francisci, Tiziana T; Tassi, Valter V; Valfrè, Adriano A; Dall'omo, Anna M AM; D'antico, Sergio S; Girelli, Domenico D; Roetto, Antonella A; De Gobbi, Marco M
Matos, Luís Costa LC; Batista, Paulo P; Monteiro, Nuno N; Ribeiro, João J; Cipriano, Maria A MA; Henriques, Pedro P; Girão, Fernando F; Carvalho, Armando A
Association of hepcidin promoter c.-582 A>G variant and iron overload in thalassemia major.
Haematologica
Andreani, Marco M; Radio, Francesca Clementina FC; Testi, Manuela M; De Bernardo, Carmelilia C; Troiano, Maria M; Majore, Silvia S; Bertucci, Pierfrancesco P; Polchi, Paola P; Rosati, Renata R; Grammatico, Paola P
Hyperferritinemia is a risk factor for steatosis in chronic liver disease.
World Journal Of Gastroenterology
Licata, Anna A; Nebbia, Maria Elena ME; Cabibbo, Giuseppe G; Iacono, Giovanna Lo GL; Barbaria, Francesco F; Brucato, Virna V; Alessi, Nicola N; Porrovecchio, Salvatore S; Di Marco, Vito V; Craxì, Antonio A; Cammà, Calogero C