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: ADA: 632G>A; Arg211His
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: ADA: 632G>A; rs121908716
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07
Variant appearance in text: ADA: R211H; rs121908716
A Landscape of Pharmacogenomic Interactions in Cancer.
Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency.
Blood
Cicalese, Maria Pia MP; Ferrua, Francesca F; Castagnaro, Laura L; Pajno, Roberta R; Barzaghi, Federica F; Giannelli, Stefania S; Dionisio, Francesca F; Brigida, Immacolata I; Bonopane, Marco M; Casiraghi, Miriam M; Tabucchi, Antonella A; Carlucci, Filippo F; Grunebaum, Eyal E; Adeli, Mehdi M; Bredius, Robbert G RG; Puck, Jennifer M JM; Stepensky, Polina P; Tezcan, Ilhan I; Rolfe, Katie K; De Boever, Erika E; Reinhardt, Rickey R RR; Appleby, Jonathan J; Ciceri, Fabio F; Roncarolo, Maria Grazia MG; Aiuti, Alessandro A
Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children.
Genetic Testing And Molecular Biomarkers
Silver, Ari J AJ; Larson, Jessica L JL; Silver, Maxwell J MJ; Lim, Regine M RM; Borroto, Carlos C; Spurrier, Brett B; Morriss, Anne A; Silver, Lee M LM
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014
Variant appearance in text: ADA: R211H; rs121908716
Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM
Publication Date: 2013-03
Variant appearance in text: ADA: 632G>A; R211H; rs121908716
Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans.
Blood
Candotti, Fabio F; Shaw, Kit L KL; Muul, Linda L; Carbonaro, Denise D; Sokolic, Robert R; Choi, Christopher C; Schurman, Shepherd H SH; Garabedian, Elizabeth E; Kesserwan, Chimene C; Jagadeesh, G Jayashree GJ; Fu, Pei-Yu PY; Gschweng, Eric E; Cooper, Aaron A; Tisdale, John F JF; Weinberg, Kenneth I KI; Crooks, Gay M GM; Kapoor, Neena N; Shah, Ami A; Abdel-Azim, Hisham H; Yu, Xiao-Jin XJ; Smogorzewska, Monika M; Wayne, Alan S AS; Rosenblatt, Howard M HM; Davis, Carla M CM; Hanson, Celine C; Rishi, Radha G RG; Wang, Xiaoyan X; Gjertson, David D; Yang, Otto O OO; Balamurugan, Arumugam A; Bauer, Gerhard G; Ireland, Joanna A JA; Engel, Barbara C BC; Podsakoff, Gregory M GM; Hershfield, Michael S MS; Blaese, R Michael RM; Parkman, Robertson R; Kohn, Donald B DB