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
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
Integrated analysis of genetic variation and gene expression reveals novel variant for increased warfarin dose requirement in African Americans.
Journal Of Thrombosis And Haemostasis : Jth
Hernandez, W W; Gamazon, E R ER; Aquino-Michaels, K K; Smithberger, E E; O'Brien, T J TJ; Harralson, A F AF; Tuck, M M; Barbour, A A; Cavallari, L H LH; Perera, M A MA
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: ZNF646: E234E; rs749671
Genome-wide association study of warfarin maintenance dose in a Brazilian sample.
Pharmacogenomics
Parra, Esteban J EJ; Botton, Mariana R MR; Perini, Jamila A JA; Krithika, S S; Bourgeois, Stephane S; Johnson, Todd A TA; Tsunoda, Tatsuhiko T; Pirmohamed, Munir M; Wadelius, Mia M; Limdi, Nita A NA; Cavallari, Larisa H LH; Burmester, James K JK; Rettie, Allan E AE; Klein, Teri E TE; Johnson, Julie A JA; Hutz, Mara H MH; 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
Publication Date: 2014
Variant appearance in text: ZNF646: E234E; rs749671
Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study.
Lancet (London, England)
Perera, Minoli A MA; Cavallari, Larisa H LH; Limdi, Nita A NA; Gamazon, Eric R ER; Konkashbaev, Anuar A; Daneshjou, Roxana R; Pluzhnikov, Anna A; Crawford, Dana C DC; Wang, Jelai J; Liu, Nianjun N; Tatonetti, Nicholas N; Bourgeois, Stephane S; Takahashi, Harumi H; Bradford, Yukiko Y; Burkley, Benjamin M BM; Desnick, Robert J RJ; Halperin, Jonathan L JL; Khalifa, Sherief I SI; Langaee, Taimour Y TY; Lubitz, Steven A SA; Nutescu, Edith A EA; Oetjens, Matthew M; Shahin, Mohamed H MH; Patel, Shitalben R SR; Sagreiya, Hersh H; Tector, Matthew M; Weck, Karen E KE; Rieder, Mark J MJ; Scott, Stuart A SA; Wu, Alan H B AH; Burmester, James K JK; Wadelius, Mia M; Deloukas, Panos P; Wagner, Michael J MJ; Mushiroda, Taisei T; Kubo, Michiaki M; Roden, Dan M DM; Cox, Nancy J NJ; Altman, Russ B RB; Klein, Teri E TE; Nakamura, Yusuke Y; Johnson, Julie A JA