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
A systematic review of common genetic variation and biological pathways in autism spectrum disorder.
Bmc Neuroscience
Rodriguez-Gomez, Diego Alejandro DA; Garcia-Guaqueta, Danna Paola DP; Charry-Sánchez, Jesús David JD; Sarquis-Buitrago, Elias E; Blanco, Mariana M; Velez-van-Meerbeke, Alberto A; Talero-Gutiérrez, Claudia C
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: SLC18A1: S98T; rs2270637
A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.
Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20
Variant appearance in text: SLC18A1: S98T; rs2270637
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Publication Date: 2018-11-02
Variant appearance in text: SLC18A1: S98T; rs2270637
Targeted exome sequencing for the identification of a protective variant against Internet gaming disorder at rs2229910 of neurotrophic tyrosine kinase receptor, type 3 (NTRK3): A pilot study.
Journal Of Behavioral Addictions
Kim, Jeong-Yu JY; Jeong, Jo-Eun JE; Rhee, Je-Keun JK; Cho, Hyun H; Chun, Ji-Won JW; Kim, Tae-Min TM; Choi, Sam-Wook SW; Choi, Jung-Seok JS; Kim, Dai-Jin DJ
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: SLC18A1: S98T; rs2270637
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: SLC18A1: S98T; rs2270637
Functional genetic variants in the vesicular monoamine transporter 1 modulate emotion processing.
Molecular Psychiatry
Lohoff, F W FW; Hodge, R R; Narasimhan, S S; Nall, A A; Ferraro, T N TN; Mickey, B J BJ; Heitzeg, M M MM; Langenecker, S A SA; Zubieta, J-K JK; Bogdan, R R; Nikolova, Y S YS; Drabant, E E; Hariri, A R AR; Bevilacqua, L L; Goldman, D D; Doyle, G A GA
Publication Date: 2014-01
Variant appearance in text: VMAT1: Ser98Thr; rs2270637
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
Human Molecular Genetics
Yu, Yi Y; Bhangale, Tushar R TR; Fagerness, Jesen J; Ripke, Stephan S; Thorleifsson, Gudmar G; Tan, Perciliz L PL; Souied, Eric H EH; Richardson, Andrea J AJ; Merriam, Joanna E JE; Buitendijk, Gabriëlle H S GH; Reynolds, Robyn R; Raychaudhuri, Soumya S; Chin, Kimberly A KA; Sobrin, Lucia L; Evangelou, Evangelos E; Lee, Phil H PH; Lee, Aaron Y AY; Leveziel, Nicolas N; Zack, Donald J DJ; Campochiaro, Betsy B; Campochiaro, Peter P; Smith, R Theodore RT; Barile, Gaetano R GR; Guymer, Robyn H RH; Hogg, Ruth R; Chakravarthy, Usha U; Robman, Luba D LD; Gustafsson, Omar O; Sigurdsson, Haraldur H; Ortmann, Ward W; Behrens, Timothy W TW; Stefansson, Kari K; Uitterlinden, André G AG; van Duijn, Cornelia M CM; Vingerling, Johannes R JR; Klaver, Caroline C W CC; Allikmets, Rando R; Brantley, Milam A MA; Baird, Paul N PN; Katsanis, Nicholas N; Thorsteinsdottir, Unnur U; Ioannidis, John P A JP; Daly, Mark J MJ; Graham, Robert R RR; Seddon, Johanna M JM
Analysis of 94 candidate genes and 12 endophenotypes for schizophrenia from the Consortium on the Genetics of Schizophrenia.
The American Journal Of Psychiatry
Greenwood, Tiffany A TA; Lazzeroni, Laura C LC; Murray, Sarah S SS; Cadenhead, Kristin S KS; Calkins, Monica E ME; Dobie, Dorcas J DJ; Green, Michael F MF; Gur, Raquel E RE; Gur, Ruben C RC; Hardiman, Gary G; Kelsoe, John R JR; Leonard, Sherry S; Light, Gregory A GA; Nuechterlein, Keith H KH; Olincy, Ann A; Radant, Allen D AD; Schork, Nicholas J NJ; Seidman, Larry J LJ; Siever, Larry J LJ; Silverman, Jeremy M JM; Stone, William S WS; Swerdlow, Neal R NR; Tsuang, Debby W DW; Tsuang, Ming T MT; Turetsky, Bruce I BI; Freedman, Robert R; Braff, David L DL