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: CFTR: 254G>T; Gly85Val
Analysis of the genotypic profile and its relationship with the clinical manifestations in people with cystic fibrosis: study from a rare disease registry.
Orphanet Journal Of Rare Diseases
Rueda-Nieto, Senay S; Mondejar-Lopez, Pedro P; Mira-Escolano, María-Pilar MP; Cutillas-Tolín, Ana A; Maceda-Roldán, Luis Alberto LA; Arense-Gonzalo, Julián Jesús JJ; Palomar-Rodríguez, Joaquín A JA
Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.
Cancer Drug Resistance (Alhambra, Calif.)
Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI
Cystic Fibrosis Polymorphic Variants in a Russian Population.
Pharmacogenomics And Personalized Medicine
Kiseleva, Anna A; Klimushina, Marina M; Sotnikova, Evgeniia E; Skirko, Olga O; Divashuk, Mikhail M; Kurilova, Olga O; Ershova, Alexandra A; Khlebus, Eleonora E; Zharikova, Anastasia A; Efimova, Irina I; Pokrovskaya, Maria M; Slominsky, Petr A PA; Shalnova, Svetlana S; Meshkov, Alexey A; Drapkina, Oxana O
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10
Variant appearance in text: CFTR: 254G>T; Gly85Val; rs75961395
Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer.
Scientific Reports
Timofeeva, Maria N MN; Kinnersley, Ben B; Farrington, Susan M SM; Whiffin, Nicola N; Palles, Claire C; Svinti, Victoria V; Lloyd, Amy A; Gorman, Maggie M; Ooi, Li-Yin LY; Hosking, Fay F; Barclay, Ella E; Zgaga, Lina L; Dobbins, Sara S; Martin, Lynn L; Theodoratou, Evropi E; Broderick, Peter P; Tenesa, Albert A; Smillie, Claire C; Grimes, Graeme G; Hayward, Caroline C; Campbell, Archie A; Porteous, David D; Deary, Ian J IJ; Harris, Sarah E SE; Northwood, Emma L EL; Barrett, Jennifer H JH; Smith, Gillian G; Wolf, Roland R; Forman, David D; Morreau, Hans H; Ruano, Dina D; Tops, Carli C; Wijnen, Juul J; Schrumpf, Melanie M; Boot, Arnoud A; Vasen, Hans F A HF; Hes, Frederik J FJ; van Wezel, Tom T; Franke, Andre A; Lieb, Wolgang W; Schafmayer, Clemens C; Hampe, Jochen J; Buch, Stephan S; Propping, Peter P; Hemminki, Kari K; Försti, Asta A; Westers, Helga H; Hofstra, Robert R; Pinheiro, Manuela M; Pinto, Carla C; Teixeira, Manuel M; Ruiz-Ponte, Clara C; Fernández-Rozadilla, Ceres C; Carracedo, Angel A; Castells, Antoni A; Castellví-Bel, Sergi S; Campbell, Harry H; Bishop, D Timothy DT; Tomlinson, Ian P M IP; Dunlop, Malcolm G MG; Houlston, Richard S RS
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
Nature Genetics
Sosnay, Patrick R PR; Siklosi, Karen R KR; Van Goor, Fredrick F; Kaniecki, Kyle K; Yu, Haihui H; Sharma, Neeraj N; Ramalho, Anabela S AS; Amaral, Margarida D MD; Dorfman, Ruslan R; Zielenski, Julian J; Masica, David L DL; Karchin, Rachel R; Millen, Linda L; Thomas, Philip J PJ; Patrinos, George P GP; Corey, Mary M; Lewis, Michelle H MH; Rommens, Johanna M JM; Castellani, Carlo C; Penland, Christopher M CM; Cutting, Garry R GR