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.
Comprehensive Molecular Profiling Identifies FOXM1 as a Key Transcription Factor for Meningioma Proliferation.
Cell Reports
Vasudevan, Harish N HN; Braunstein, Steve E SE; Phillips, Joanna J JJ; Pekmezci, Melike M; Tomlin, Bryan A BA; Wu, Ashley A; Reis, Gerald F GF; Magill, Stephen T ST; Zhang, Jie J; Feng, Felix Y FY; Nicholaides, Theodore T; Chang, Susan M SM; Sneed, Penny K PK; McDermott, Michael W MW; Berger, Mitchel S MS; Perry, Arie A; Raleigh, David R DR
Publication Date: 2018-03-27
Variant appearance in text: PSPH: 204C>A; Leu68Leu
Tarpey, Patrick S PS; Behjati, Sam S; Young, Matthew D MD; Martincorena, Inigo I; Alexandrov, Ludmil B LB; Farndon, Sarah J SJ; Guzzo, Charlotte C; Hardy, Claire C; Latimer, Calli C; Butler, Adam P AP; Teague, Jon W JW; Shlien, Adam A; Futreal, P Andrew PA; Shah, Sohrab S; Bashashati, Ali A; Jamshidi, Farzad F; Nielsen, Torsten O TO; Huntsman, David D; Baumhoer, Daniel D; Brandner, Sebastian S; Wunder, Jay J; Dickson, Brendan B; Cogswell, Patricia P; Sommer, Josh J; Phillips, Joanna J JJ; Amary, M Fernanda MF; Tirabosco, Roberto R; Pillay, Nischalan N; Yip, Stephen S; Stratton, Michael R MR; Flanagan, Adrienne M AM; Campbell, Peter J PJ
Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.
Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D