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
Transcriptome-Wide Association Studies and Integration Analysis of mRNA Expression Profiles Identify Candidate Genes and Pathways Associated With Ankylosing Spondylitis.
Frontiers In Immunology
Feng, Ruoyang R; Lu, Mengnan M; Liu, Lin L; Xu, Ke K; Xu, Peng P
Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders.
Nature Neuroscience
Yang, Chengran C; Farias, Fabiana H G FHG; Ibanez, Laura L; Suhy, Adam A; Sadler, Brooke B; Fernandez, Maria Victoria MV; Wang, Fengxian F; Bradley, Joseph L JL; Eiffert, Brett B; Bahena, Jorge A JA; Budde, John P JP; Li, Zeran Z; Dube, Umber U; Sung, Yun Ju YJ; Mihindukulasuriya, Kathie A KA; Morris, John C JC; Fagan, Anne M AM; Perrin, Richard J RJ; Benitez, Bruno A BA; Rhinn, Herve H; Harari, Oscar O; Cruchaga, Carlos C
Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders.
Nature Neuroscience
Yang, Chengran C; Farias, Fabiana H G FHG; Ibanez, Laura L; Suhy, Adam A; Sadler, Brooke B; Fernandez, Maria Victoria MV; Wang, Fengxian F; Bradley, Joseph L JL; Eiffert, Brett B; Bahena, Jorge A JA; Budde, John P JP; Li, Zeran Z; Dube, Umber U; Sung, Yun Ju YJ; Mihindukulasuriya, Kathie A KA; Morris, John C JC; Fagan, Anne M AM; Perrin, Richard J RJ; Benitez, Bruno A BA; Rhinn, Herve H; Harari, Oscar O; Cruchaga, Carlos C
Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.
Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08
Variant appearance in text: ERAP1: 1359T>C; S453S; rs27529
Genomewide Association Study of Acute Anterior Uveitis Identifies New Susceptibility Loci.
Investigative Ophthalmology & Visual Science
Huang, Xiu-Feng XF; Li, Zhixiu Z; De Guzman, Erika E; Robinson, Philip P; Gensler, Lianne L; Ward, Michael M MM; Rahbar, Mohammad Hossein MH; Lee, MinJae M; Weisman, Michael H MH; Macfarlane, Gary J GJ; Jones, Gareth T GT; Klingberg, Eva E; Forsblad-d'Elia, Helena H; McCluskey, Peter P; Wakefield, Denis D; Coombes, Jeff S JS; Fiatarone Singh, Maria A MA; Mavros, Yorgi Y; Vlahovich, Nicole N; Hughes, David C DC; Marzo-Ortega, Helena H; Van der Horste-Bruinsma, Irene I; O'Shea, Finbar F; Martin, Tammy M TM; Rosenbaum, James J; Breban, Maxime M; Jin, Zi-Bing ZB; Leo, Paul P; Reveille, John D JD; Wordsworth, B Paul BP; Brown, Matthew A MA
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
Deep sequence analysis of HIV adaptation following vertical transmission reveals the impact of immune pressure on the evolution of HIV.
Plos Pathogens
Currenti, Jennifer J; Chopra, Abha A; John, Mina M; Leary, Shay S; McKinnon, Elizabeth E; Alves, Eric E; Pilkinton, Mark M; Smith, Rita R; Barnett, Louise L; McDonnell, Wyatt J WJ; Lucas, Michaela M; Noel, Francine F; Mallal, Simon S; Conrad, Joseph A JA; Kalams, Spyros A SA; Gaudieri, Silvana S
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
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Genome-wide association study in Turkish and Iranian populations identify rare familial Mediterranean fever gene (MEFV) polymorphisms associated with ankylosing spondylitis.
Plos Genetics
Li, Zhixiu Z; Akar, Servet S; Yarkan, Handan H; Lee, Sau Kuen SK; Çetin, Pınar P; Can, Gerçek G; Kenar, Gökce G; Çapa, Fernur F; Pamuk, Omer Nuri ON; Pehlivan, Yavuz Y; Cremin, Katie K; De Guzman, Erika E; Harris, Jessica J; Wheeler, Lawrie L; Jamshidi, Ahmadreza A; Vojdanian, Mahdi M; Farhadi, Elham E; Ahmadzadeh, Nooshin N; Yüce, Zeynep Z; Dalkılıç, Ediz E; Solmaz, Dilek D; Akın, Berrin B; Dönmez, Salim S; Sarı, İsmail İ; Leo, Paul J PJ; Kenna, Tony J TJ; Önen, Fatos F; Mahmoudi, Mahdi M; Brown, Matthew A MA; Akkoc, Nurullah N
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
Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.
Febs Open Bio
Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M
Zambrano-Zaragoza, José Francisco JF; Agraz-Cibrian, Juan Manuel JM; González-Reyes, Christian C; Durán-Avelar, Ma de Jesús Mde J; Vibanco-Pérez, Norberto N
Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.
Nature Genetics
, ; Reveille, John D JD; Sims, Anne-Marie AM; Danoy, Patrick P; Evans, David M DM; Leo, Paul P; Pointon, Jennifer J JJ; Jin, Rui R; Zhou, Xiaodong X; Bradbury, Linda A LA; Appleton, Louise H LH; Davis, John C JC; Diekman, Laura L; Doan, Tracey T; Dowling, Alison A; Duan, Ran R; Duncan, Emma L EL; Farrar, Claire C; Hadler, Johanna J; Harvey, David D; Karaderi, Tugce T; Mogg, Rebecca R; Pomeroy, Emma E; Pryce, Karena K; Taylor, Jacqueline J; Savage, Laurie L; Deloukas, Panos P; Kumanduri, Vasudev V; Peltonen, Leena L; Ring, Sue M SM; Whittaker, Pamela P; Glazov, Evgeny E; Thomas, Gethin P GP; Maksymowych, Walter P WP; Inman, Robert D RD; Ward, Michael M MM; Stone, Millicent A MA; Weisman, Michael H MH; Wordsworth, B Paul BP; Brown, Matthew A MA
Investigating the genetic association between ERAP1 and ankylosing spondylitis.
Human Molecular Genetics
Harvey, David D; Pointon, Jennifer J JJ; Evans, David M DM; Karaderi, Tugce T; Farrar, Claire C; Appleton, Louise H LH; Sturrock, Roger D RD; Stone, Millicent A MA; Oppermann, Udo U; Brown, Matthew A MA; Wordsworth, B Paul BP
The ERAP2 gene is associated with preeclampsia in Australian and Norwegian populations.
Human Genetics
Johnson, Matthew P MP; Roten, Linda T LT; Dyer, Thomas D TD; East, Christine E CE; Forsmo, Siri S; Blangero, John J; Brennecke, Shaun P SP; Austgulen, Rigmor R; Moses, Eric K EK