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
Publication Date: 2022-10-14
Variant appearance in text: SEMA7A: Y169Y; rs2075589
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: SEMA7A: 507C>T; Y169Y; rs2075589
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
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.
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: SEMA7A: Y169Y; rs2075589
CSK regulatory polymorphism is associated with systemic lupus erythematosus and influences B-cell signaling and activation.
Nature Genetics
Manjarrez-Orduño, Nataly N; Marasco, Emiliano E; Chung, Sharon A SA; Katz, Matthew S MS; Kiridly, Jenna F JF; Simpfendorfer, Kim R KR; Freudenberg, Jan J; Ballard, David H DH; Nashi, Emil E; Hopkins, Thomas J TJ; Cunninghame Graham, Deborah S DS; Lee, Annette T AT; Coenen, Marieke J H MJ; Franke, Barbara B; Swinkels, Dorine W DW; Graham, Robert R RR; Kimberly, Robert P RP; Gaffney, Patrick M PM; Vyse, Timothy J TJ; Behrens, Timothy W TW; Criswell, Lindsey A LA; Diamond, Betty B; Gregersen, Peter K PK