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
POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer.
Oncotarget
Esteban-Jurado, Clara C; Giménez-Zaragoza, David D; Muñoz, Jenifer J; Franch-Expósito, Sebastià S; Álvarez-Barona, Miriam M; Ocaña, Teresa T; Cuatrecasas, Miriam M; Carballal, Sabela S; López-Cerón, María M; Marti-Solano, Maria M; Díaz-Gay, Marcos M; van Wezel, Tom T; Castells, Antoni A; Bujanda, Luis L; Balmaña, Judith J; Gonzalo, Victoria V; Llort, Gemma G; Ruiz-Ponte, Clara C; Cubiella, Joaquín J; Balaguer, Francesc F; Aligué, Rosa R; Castellví-Bel, Sergi S
Publication Date: 2017-04-18
Variant appearance in text: POLE: 1359+43G>A; rs4883555
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