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
Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.
Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08
Variant appearance in text: IKBKE: I67I; rs1539243
Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.
Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
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
Publication Date: 2019-10-09
Variant appearance in text: IKBKE: I67I; rs1539243
Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome.
Journal Of Medical Genetics
Codina-Sola, Marta M; Costa-Roger, Mar M; Pérez-García, Debora D; Flores, Raquel R; Palacios-Verdú, Maria Gabriela MG; Cusco, Ivon I; Pérez-Jurado, Luis Alberto LA
Genome-wide gene-environment interaction in depression: A systematic evaluation of candidate genes: The childhood trauma working-group of PGC-MDD.
American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics
Van der Auwera, Sandra S; Peyrot, Wouter J WJ; Milaneschi, Yuri Y; Hertel, Johannes J; Baune, Bernhard B; Breen, Gerome G; Byrne, Enda E; Dunn, Erin C EC; Fisher, Helen H; Homuth, Georg G; Levinson, Douglas D; Lewis, Cathryn C; Mills, Natalie N; Mullins, Niamh N; Nauck, Matthias M; Pistis, Giorgio G; Preisig, Martin M; Rietschel, Marcella M; Ripke, Stephan S; Sullivan, Patrick P; Teumer, Alexander A; Völzke, Henry H; , ; Boomsma, Dorret I DI; Wray, Naomi R NR; Penninx, Brenda B; Grabe, Hans H
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
Publication Date: 2015-12-08
Variant appearance in text: IKBKE: I67I; rs1539243
Recurrent inactivating RASA2 mutations in melanoma.
Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Polymorphisms of IKBKE gene are associated with major depressive disorder and panic disorder.
Brain And Behavior
Traks, Tanel T; Koido, Kati K; Balõtšev, Roman R; Eller, Triin T; Kõks, Sulev S; Maron, Eduard E; Tõru, Innar I; Shlik, Jakov J; Vasar, Eero E; Vasar, Veiko V
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
Publication Date: 2014
Variant appearance in text: IKBKE: I67I; rs1539243
Interaction among apoptosis-associated sequence variants and joint effects on aggressive prostate cancer.
Bmc Medical Genomics
Lavender, Nicole A NA; Rogers, Erica N EN; Yeyeodu, Susan S; Rudd, James J; Hu, Ting T; Zhang, Jie J; Brock, Guy N GN; Kimbro, Kevin S KS; Moore, Jason H JH; Hein, David W DW; Kidd, La Creis R LC
A candidate gene study of the type I interferon pathway implicates IKBKE and IL8 as risk loci for SLE.
European Journal Of Human Genetics : Ejhg
Sandling, Johanna K JK; Garnier, Sophie S; Sigurdsson, Snaevar S; Wang, Chuan C; Nordmark, Gunnel G; Gunnarsson, Iva I; Svenungsson, Elisabet E; Padyukov, Leonid L; Sturfelt, Gunnar G; Jönsen, Andreas A; Bengtsson, Anders A AA; Truedsson, Lennart L; Eriksson, Catharina C; Rantapää-Dahlqvist, Solbritt S; Mälarstig, Anders A; Strawbridge, Rona J RJ; Hamsten, Anders A; Criswell, Lindsey A LA; Graham, Robert R RR; Behrens, Timothy W TW; Eloranta, Maija-Leena ML; Alm, Gunnar G; Rönnblom, Lars L; Syvänen, Ann-Christine AC