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
Targeted next generation sequencing as a tool for precision medicine.
Bmc Medical Genomics
Gulilat, Markus M; Lamb, Tyler T; Teft, Wendy A WA; Wang, Jian J; Dron, Jacqueline S JS; Robinson, John F JF; Tirona, Rommel G RG; Hegele, Robert A RA; Kim, Richard B RB; Schwarz, Ute I UI
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Association between ß2-adrenergic receptor gene polymorphisms and adverse events of ritodrine in the treatment of preterm labor: a prospective observational study.
Bmc Genetics
Chung, Jee Eun JE; Choi, Soo An SA; Hwang, Han Sung HS; Park, Jin Young JY; Lee, Kyung Eun KE; Yee, Jeong J; Kim, Young Ju YJ; Gwak, Hye Sun HS
Systematic Molecular Phenotyping: A Path Toward Precision Emergency Medicine?
Academic Emergency Medicine : Official Journal Of The Society For Academic Emergency Medicine
Limkakeng, Alexander T AT; Monte, Andrew A AA; Kabrhel, Christopher C; Puskarich, Michael M; Heitsch, Laura L; Tsalik, Ephraim L EL; Shapiro, Nathan I NI
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
A genome-wide analysis of the response to inhaled β2-agonists in chronic obstructive pulmonary disease.
The Pharmacogenomics Journal
Hardin, M M; Cho, M H MH; McDonald, M-L ML; Wan, E E; Lomas, D A DA; Coxson, H O HO; MacNee, W W; Vestbo, J J; Yates, J C JC; Agusti, A A; Calverley, P M A PM; Celli, B B; Crim, C C; Rennard, S S; Wouters, E E; Bakke, P P; Bhatt, S P SP; Kim, V V; Ramsdell, J J; Regan, E A EA; Make, B J BJ; Hokanson, J E JE; Crapo, J D JD; Beaty, T H TH; Hersh, C P CP; , ; ,
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
Interaction of the ADRB2 gene polymorphism with childhood trauma in predicting adult symptoms of posttraumatic stress disorder.
Jama Psychiatry
Liberzon, Israel I; King, Anthony P AP; Ressler, Kerry J KJ; Almli, Lynn M LM; Zhang, Peng P; Ma, Sean T ST; Cohen, Gregory H GH; Tamburrino, Marijo B MB; Calabrese, Joseph R JR; Galea, Sandro S
A functional SNP upstream of the beta-2 adrenergic receptor gene (ADRB2) is associated with obesity in Oceanic populations.
International Journal Of Obesity (2005)
Naka, I I; Hikami, K K; Nakayama, K K; Koga, M M; Nishida, N N; Kimura, R R; Furusawa, T T; Natsuhara, K K; Yamauchi, T T; Nakazawa, M M; Ataka, Y Y; Ishida, T T; Inaoka, T T; Iwamoto, S S; Matsumura, Y Y; Ohtsuka, R R; Tsuchiya, N N; Ohashi, J J
Interactions between glutathione S-transferase P1, tumor necrosis factor, and traffic-related air pollution for development of childhood allergic disease.
Environmental Health Perspectives
Melén, Erik E; Nyberg, Fredrik F; Lindgren, Cecilia M CM; Berglind, Niklas N; Zucchelli, Marco M; Nordling, Emma E; Hallberg, Jenny J; Svartengren, Magnus M; Morgenstern, Ralf R; Kere, Juha J; Bellander, Tom T; Wickman, Magnus M; Pershagen, Göran G
Sequence, haplotype, and association analysis of ADRbeta2 in a multiethnic asthma case-control study.
American Journal Of Respiratory And Critical Care Medicine
Hawkins, Gregory A GA; Tantisira, Kelan K; Meyers, Deborah A DA; Ampleford, Elizabeth J EJ; Moore, Wendy C WC; Klanderman, Barbara B; Liggett, Stephen B SB; Peters, Stephen P SP; Weiss, Scott T ST; Bleecker, Eugene R ER