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
Neutrophil GM-CSF signaling in inflammatory bowel disease patients is influenced by non-coding genetic variants.
Scientific Reports
Venkateswaran, Suresh S; Denson, Lee A LA; Jurickova, Ingrid I; Dodd, Anne A; Zwick, Michael E ME; Cutler, David J DJ; Kugathasan, Subra S; Okou, David T DT
Genetic and Transcriptomic Variation Linked to Neutrophil Granulocyte-Macrophage Colony-Stimulating Factor Signaling in Pediatric Crohn's Disease.
Inflammatory Bowel Diseases
Denson, Lee A LA; Jurickova, Ingrid I; Karns, Rebekah R; Shaw, Kelly A KA; Cutler, David J DJ; Okou, David D; Valencia, C Alexander CA; Dodd, Anne A; Mondal, Kajari K; Aronow, Bruce J BJ; Haberman, Yael Y; Linn, Aaron A; Price, Adam A; Bezold, Ramona R; Lake, Kathleen K; Jackson, Kimberly K; Walters, Thomas D TD; Griffiths, Anne A; Baldassano, Robert N RN; Noe, Joshua D JD; Hyams, Jeffrey S JS; Crandall, Wallace V WV; Kirschner, Barbara S BS; Heyman, Melvin B MB; Snapper, Scott S; Guthery, Stephen L SL; Dubinsky, Marla C MC; Leleiko, Neal S NS; Otley, Anthony R AR; Xavier, Ramnik J RJ; Stevens, Christine C; Daly, Mark J MJ; Zwick, Michael E ME; Kugathasan, Subra S
Publication Date: 2019-02-21
Variant appearance in text: CSF2RB: 1807C>A; Pro603Thr
Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.
Plos One
Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E
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: CSF2RB: P603T; rs1801122