A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.
Scientific Reports
Castellanos, Elisabeth E; Gel, Bernat B; Rosas, Inma I; Tornero, Eva E; Santín, Sheila S; Pluvinet, Raquel R; Velasco, Juan J; Sumoy, Lauro L; Del Valle, Jesús J; Perucho, Manuel M; Blanco, Ignacio I; Navarro, Matilde M; Brunet, Joan J; Pineda, Marta M; Feliubadaló, Lidia L; Capellá, Gabi G; Lázaro, Conxi C; Serra, Eduard E
Publication Date: 2017-01-04
Variant appearance in text: NF1: 61-123G>A; rs2269855
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
Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association.
Cancer Research
Brems, Hilde H; Park, Caroline C; Maertens, Ophélia O; Pemov, Alexander A; Messiaen, Ludwine L; Messia, Ludwine L; Upadhyaya, Meena M; Claes, Kathleen K; Beert, Eline E; Peeters, Kristel K; Mautner, Victor V; Sloan, Jennifer L JL; Yao, Lawrence L; Lee, Chyi-Chia Richard CC; Sciot, Raf R; De Smet, Luc L; Legius, Eric E; Stewart, Douglas R DR