Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.
Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Multitrait genome-wide analyses identify new susceptibility loci and candidate drugs to primary sclerosing cholangitis.
Nature Communications
Han, Younghun Y; Byun, Jinyoung J; Zhu, Catherine C; Sun, Ryan R; Roh, Julia Y JY; Cordell, Heather J HJ; Lee, Hyun-Sung HS; Shaw, Vikram R VR; Kang, Sung Wook SW; Razjouyan, Javad J; Cooley, Matthew A MA; Hassan, Manal M MM; Siminovitch, Katherine A KA; Folseraas, Trine T; Ellinghaus, David D; Bergquist, Annika A; Rushbrook, Simon M SM; Franke, Andre A; Karlsen, Tom H TH; Lazaridis, Konstantinos N KN; , ; McGlynn, Katherine A KA; Roberts, Lewis R LR; Amos, Christopher I CI
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
An extremes of phenotype approach confirms significant genetic heterogeneity in patients with ulcerative colitis.
Journal Of Crohn'S & Colitis
Mortlock, Sally S; Lord, Anton A; Montgomery, Grant G; Zakrzewski, Martha M; Simms, Lisa A LA; Krishnaprasad, Krupa K; Hanigan, Katherine K; Doecke, James D JD; Walsh, Alissa A; Lawrance, Ian C IC; Bampton, Peter A PA; Andrews, Jane M JM; Mahy, Gillian G; Connor, Susan J SJ; Sparrow, Miles P MP; Bell, Sally S; Florin, Timothy H TH; Begun, Jakob J; Gearry, Richard B RB; Radford-Smith, Graham L GL
A Missense Variant in Granulysin is Associated with the Efficacy of Pegylated-Interferon-Alpha Therapy in Chinese Patients with HBeAg-Positive Chronic Hepatitis B.
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021
Variant appearance in text: CFB: 94C>T; R32W; rs12614
A non-synonymous variant rs12614 of complement factor B associated with risk of chronic hepatitis B in a Korean population.
Bmc Medical Genetics
Seo, Jung Yeon JY; Shin, Joong-Gon JG; Youn, Byeong Ju BJ; Namgoong, Suhg S; Cheong, Hyun Sub HS; Kim, Lyoung Hyo LH; Kim, Ji On JO; Shin, Hyoung Doo HD; Kim, Yoon Jun YJ
Publication Date: 2020-12-17
Variant appearance in text: CFB: Arg32Trp; rs12614
Associations of the intestinal microbiome with the complement system in neovascular age-related macular degeneration.
Npj Genomic Medicine
Zysset-Burri, Denise C DC; Keller, Irene I; Berger, Lieselotte E LE; Largiadèr, Carlo R CR; Wittwer, Matthias M; Wolf, Sebastian S; Zinkernagel, Martin S MS
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
Progression of Geographic Atrophy in Age-related Macular Degeneration: AREDS2 Report Number 16.
Ophthalmology
Keenan, Tiarnan D TD; Agrón, Elvira E; Domalpally, Amitha A; Clemons, Traci E TE; van Asten, Freekje F; Wong, Wai T WT; Danis, Ronald G RG; Sadda, SriniVas S; Rosenfeld, Philip J PJ; Klein, Michael L ML; Ratnapriya, Rinki R; Swaroop, Anand A; Ferris, Frederick L FL; Chew, Emily Y EY; ,
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.
Safety and effectiveness of eculizumab for adult patients with atypical hemolytic-uremic syndrome in Japan: interim analysis of post-marketing surveillance.
Comprehensive assessment showed no associations of variants at the SLC10A1 locus with susceptibility to persistent HBV infection among Southern Chinese.