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
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
MMP3 and TIMP1 variants contribute to chronic periodontitis and may be implicated in disease progression.
Journal Of Clinical Periodontology
Letra, Ariadne A; Silva, Renato M RM; Rylands, Ryan J RJ; Silveira, Elcia M EM; de Souza, Ana P AP; Wendell, Steven K SK; Garlet, Gustavo P GP; Vieira, Alexandre R AR
Publication Date: 2012-08
Variant appearance in text: MMP9: Val694Val; rs13925
A coding polymorphism in matrix metalloproteinase 9 reduces risk of scarring sequelae of ocular Chlamydia trachomatis infection.
Bmc Medical Genetics
Natividad, Angels A; Cooke, Graham G; Holland, Martin J MJ; Burton, Matthew J MJ; Joof, Hassan M HM; Rockett, Kirk K; Kwiatkowski, Dominic P DP; Mabey, David C W DC; Bailey, Robin L RL