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
Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.
Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Use of Germline Genetic Variability for Prediction of Chemoresistance and Prognosis of Breast Cancer Patients.
Cancers
Hlavac, Viktor V; Kovacova, Maria M; Elsnerova, Katerina K; Brynychova, Veronika V; Kozevnikovova, Renata R; Raus, Karel K; Kopeckova, Katerina K; Mestakova, Sona S; Vrana, David D; Gatek, Jiri J; Ostasov, Pavel P; Vaclavikova, Radka R; Soucek, Pavel P
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
Common germline polymorphisms associated with breast cancer-specific survival.
Breast Cancer Research : Bcr
Pirie, Ailith A; Guo, Qi Q; Kraft, Peter P; Canisius, Sander S; Eccles, Diana M DM; Rahman, Nazneen N; Nevanlinna, Heli H; Chen, Constance C; Khan, Sofia S; Tyrer, Jonathan J; Bolla, Manjeet K MK; Wang, Qin Q; Dennis, Joe J; Michailidou, Kyriaki K; Lush, Michael M; Dunning, Alison M AM; Shah, Mitul M; Czene, Kamila K; Darabi, Hatef H; Eriksson, Mikael M; Lambrechts, Dieter D; Weltens, Caroline C; Leunen, Karin K; van Ongeval, Chantal C; Nordestgaard, Børge G BG; Nielsen, Sune F SF; Flyger, Henrik H; Rudolph, Anja A; Seibold, Petra P; Flesch-Janys, Dieter D; Blomqvist, Carl C; Aittomäki, Kristiina K; Fagerholm, Rainer R; Muranen, Taru A TA; Olsen, Janet E JE; Hallberg, Emily E; Vachon, Celine C; Knight, Julia A JA; Glendon, Gord G; Mulligan, Anna Marie AM; Broeks, Annegien A; Cornelissen, Sten S; Haiman, Christopher A CA; Henderson, Brian E BE; Schumacher, Frederick F; Le Marchand, Loic L; Hopper, John L JL; Tsimiklis, Helen H; Apicella, Carmel C; Southey, Melissa C MC; Cross, Simon S SS; Reed, Malcolm Wr MW; Giles, Graham G GG; Milne, Roger L RL; McLean, Catriona C; Winqvist, Robert R; Pylkäs, Katri K; Jukkola-Vuorinen, Arja A; Grip, Mervi M; Hooning, Maartje J MJ; Hollestelle, Antoinette A; Martens, John Wm JW; van den Ouweland, Ans Mw AM; Marme, Federick F; Schneeweiss, Andreas A; Yang, Rongxi R; Burwinkel, Barbara B; Figueroa, Jonine J; Chanock, Stephen J SJ; Lissowska, Jolanta J; Sawyer, Elinor J EJ; Tomlinson, Ian I; Kerin, Michael J MJ; Miller, Nicola N; Brenner, Hermann H; Butterbach, Katja K; Holleczek, Bernd B; Kataja, Vesa V; Kosma, Veli-Matti VM; Hartikainen, Jaana M JM; Li, Jingmei J; Brand, Judith S JS; Humphreys, Keith K; Devilee, Peter P; Tollenaar, Robert Aem RA; Seynaeve, Caroline C; Radice, Paolo P; Peterlongo, Paolo P; Manoukian, Siranoush S; Ficarazzi, Filomena F; Beckmann, Matthias W MW; Hein, Alexander A; Ekici, Arif B AB; Balleine, Rosemary R; Phillips, Kelly-Anne KA; , ; Benitez, Javier J; Zamora, M Pilar MP; Perez, Jose Ignacio Arias JI; Menéndez, Primitiva P; Jakubowska, Anna A; Lubinski, Jan J; Gronwald, Jacek J; Durda, Katarzyna K; Hamann, Ute U; Kabisch, Maria M; Ulmer, Hans Ulrich HU; Rüdiger, Thomas T; Margolin, Sara S; Kristensen, Vessela V; Nord, Siljie S; , ; Evans, D Gareth DG; Abraham, Jean J; Earl, Helena H; Poole, Christopher J CJ; Hiller, Louise L; Dunn, Janet A JA; Bowden, Sarah S; Yang, Rose R; Campa, Daniele D; Diver, W Ryan WR; Gapstur, Susan M SM; Gaudet, Mia M MM; Hankinson, Susan S; Hoover, Robert N RN; Hüsing, Anika A; Kaaks, Rudolf R; Machiela, Mitchell J MJ; Willett, Walter W; Barrdahl, Myrto M; Canzian, Federico F; Chin, Suet-Feung SF; Caldas, Carlos C; Hunter, David J DJ; Lindstrom, Sara S; Garcia-Closas, Montserrat M; Couch, Fergus J FJ; Chenevix-Trench, Georgia G; Mannermaa, Arto A; Andrulis, Irene L IL; Hall, Per P; Chang-Claude, Jenny J; Easton, Douglas F DF; Bojesen, Stig E SE; Cox, Angela A; Fasching, Peter A PA; Pharoah, Paul Dp PD; Schmidt, Marjanka K MK
The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.
Disease Markers
Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N
Exploring the distribution of genetic markers of pharmacogenomics relevance in Brazilian and Mexican populations.
Plos One
Bonifaz-Peña, Vania V; Contreras, Alejandra V AV; Struchiner, Claudio Jose CJ; Roela, Rosimeire A RA; Furuya-Mazzotti, Tatiane K TK; Chammas, Roger R; Rangel-Escareño, Claudia C; Uribe-Figueroa, Laura L; Gómez-Vázquez, María José MJ; McLeod, Howard L HL; Hidalgo-Miranda, Alfredo A; Parra, Esteban J EJ; Fernández-López, Juan Carlos JC; Suarez-Kurtz, Guilherme G
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
SLC28A3 genotype and gemcitabine rate of infusion affect dFdCTP metabolite disposition in patients with solid tumours.
British Journal Of Cancer
Khatri, A A; Williams, B W BW; Fisher, J J; Brundage, R C RC; Gurvich, V J VJ; Lis, L G LG; Skubitz, K M KM; Dudek, A Z AZ; Greeno, E W EW; Kratzke, R A RA; Lamba, J K JK; Kirstein, M N MN
Evaluation of clustering and genotype distribution for replication in genome wide association studies: the age-related eye disease study.
Plos One
Edwards, Albert O AO; Fridley, Brooke L BL; James, Katherine M KM; Sharma, Anil K AK; Sharma, Anil S AS; Cunningham, Julie M JM; Tosakulwong, Nirubol N