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
Neoadjuvant PD-1 Blockade Combined With Chemotherapy Followed by Concurrent Immunoradiotherapy in Locally Advanced Anal Canal Squamous Cell Carcinoma Patients: Antitumor Efficacy, Safety and Biomarker Analysis.
Frontiers In Immunology
Xiao, WeiWei W; Yuan, Yan Y; Wang, SuiHai S; Liao, Zhidong Z; Cai, PeiQiang P; Chen, BaoQing B; Zhang, Rong R; Wang, Fang F; Zeng, ZhiFan Z; Gao, YuanHong Y
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
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
Genome-wide scan on total serum IgE levels identifies FCER1A as novel susceptibility locus.
Plos Genetics
Weidinger, Stephan S; Gieger, Christian C; Rodriguez, Elke E; Baurecht, Hansjörg H; Mempel, Martin M; Klopp, Norman N; Gohlke, Henning H; Wagenpfeil, Stefan S; Ollert, Markus M; Ring, Johannes J; Behrendt, Heidrun H; Heinrich, Joachim J; Novak, Natalija N; Bieber, Thomas T; Krämer, Ursula U; Berdel, Dietrich D; von Berg, Andrea A; Bauer, Carl Peter CP; Herbarth, Olf O; Koletzko, Sibylle S; Prokisch, Holger H; Mehta, Divya D; Meitinger, Thomas T; Depner, Martin M; von Mutius, Erika E; Liang, Liming L; Moffatt, Miriam M; Cookson, William W; Kabesch, Michael M; Wichmann, H-Erich HE; Illig, Thomas T