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
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
Publication Date: 2019-10-09
Variant appearance in text: ADGRV1: P1502P; rs17543819
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.
Genome-wide genetic and epigenetic analyses of pancreatic acinar cell carcinomas reveal aberrations in genome stability.
Nature Communications
Jäkel, Cornelia C; Bergmann, Frank F; Toth, Reka R; Assenov, Yassen Y; van der Duin, Daniel D; Strobel, Oliver O; Hank, Thomas T; Klöppel, Günter G; Dorrell, Craig C; Grompe, Markus M; Moss, Joshua J; Dor, Yuval Y; Schirmacher, Peter P; Plass, Christoph C; Popanda, Odilia O; Schmezer, Peter P
Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3.
Circulation. Cardiovascular Genetics
Guo, Tingwei T; Repetto, Gabriela M GM; McDonald McGinn, Donna M DM; Chung, Jonathan H JH; Nomaru, Hiroko H; Campbell, Christopher L CL; Blonska, Anna A; Bassett, Anne S AS; Chow, Eva W C EWC; Mlynarski, Elisabeth E EE; Swillen, Ann A; Vermeesch, Joris J; Devriendt, Koen K; Gothelf, Doron D; Carmel, Miri M; Michaelovsky, Elena E; Schneider, Maude M; Eliez, Stephan S; Antonarakis, Stylianos E SE; Coleman, Karlene K; Tomita-Mitchell, Aoy A; Mitchell, Michael E ME; Digilio, M Cristina MC; Dallapiccola, Bruno B; Marino, Bruno B; Philip, Nicole N; Busa, Tiffany T; Kushan-Wells, Leila L; Bearden, Carrie E CE; Piotrowicz, Małgorzata M; Hawuła, Wanda W; Roberts, Amy E AE; Tassone, Flora F; Simon, Tony J TJ; van Duin, Esther D A EDA; van Amelsvoort, Thérèse A TA; Kates, Wendy R WR; Zackai, Elaine E; Johnston, H Richard HR; Cutler, David J DJ; Agopian, A J AJ; Goldmuntz, Elizabeth E; Mitchell, Laura E LE; Wang, Tao T; Emanuel, Beverly S BS; Morrow, Bernice E BE; ,
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: GPR98: P1502P; rs17543819