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
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: DDX58: V800V; rs3205166
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.
Genetic associations with viral respiratory illnesses and asthma control in children.
Clinical And Experimental Allergy : Journal Of The British Society For Allergy And Clinical Immunology
Loisel, D A DA; Du, G G; Ahluwalia, T S TS; Tisler, C J CJ; Evans, M D MD; Myers, R A RA; Gangnon, R E RE; Kreiner-Møller, E E; Bønnelykke, K K; Bisgaard, H H; Jackson, D J DJ; Lemanske, R F RF; Nicolae, D L DL; Gern, J E JE; Ober, C C
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: DDX58: V800V; rs3205166
Genetic polymorphisms in host antiviral genes: associations with humoral and cellular immunity to measles vaccine.
Vaccine
Haralambieva, Iana H IH; Ovsyannikova, Inna G IG; Umlauf, Benjamin J BJ; Vierkant, Robert A RA; Shane Pankratz, V V; Jacobson, Robert M RM; Poland, Gregory A GA
Publication Date: 2011-11-08
Variant appearance in text: DDX58: Val800Val; rs3205166