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
Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.
Plos One
Pagliari, Maria Teresa MT; Cairo, Andrea A; Boscarino, Marco M; Mancini, Ilaria I; Pappalardo, Emanuela E; Bucciarelli, Paolo P; Martinelli, Ida I; Rosendaal, Frits R FR; Peyvandi, Flora F
Publication Date: 2021
Variant appearance in text: VWF: G2705R; rs7962217
Coagulation factor VIII: Relationship to cardiovascular disease risk and whole genome sequence and epigenome-wide analysis in African Americans.
Journal Of Thrombosis And Haemostasis : Jth
Raffield, Laura M LM; Lu, Ake T AT; Szeto, Mindy D MD; Little, Amarise A; Grinde, Kelsey E KE; Shaw, Jessica J; Auer, Paul L PL; Cushman, Mary M; Horvath, Steve S; Irvin, Marguerite R MR; Lange, Ethan M EM; Lange, Leslie A LA; Nickerson, Deborah A DA; Thornton, Timothy A TA; Wilson, James G JG; Wheeler, Marsha M MM; , ; Zakai, Neil A NA; Reiner, Alex P AP
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: VWF: G2705R; rs7962217
A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.
Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20
Variant appearance in text: VWF: G2705R; rs7962217
Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels.
Circulation
Sabater-Lleal, Maria M; Huffman, Jennifer E JE; de Vries, Paul S PS; Marten, Jonathan J; Mastrangelo, Michael A MA; Song, Ci C; Pankratz, Nathan N; Ward-Caviness, Cavin K CK; Yanek, Lisa R LR; Trompet, Stella S; Delgado, Graciela E GE; Guo, Xiuqing X; Bartz, Traci M TM; Martinez-Perez, Angel A; Germain, Marine M; de Haan, Hugoline G HG; Ozel, Ayse B AB; Polasek, Ozren O; Smith, Albert V AV; Eicher, John D JD; Reiner, Alex P AP; Tang, Weihong W; Davies, Neil M NM; Stott, David J DJ; Rotter, Jerome I JI; Tofler, Geoffrey H GH; Boerwinkle, Eric E; de Maat, Moniek P M MPM; Kleber, Marcus E ME; Welsh, Paul P; Brody, Jennifer A JA; Chen, Ming-Huei MH; Vaidya, Dhananjay D; Soria, José Manuel JM; Suchon, Pierre P; van Hylckama Vlieg, Astrid A; Desch, Karl C KC; Kolcic, Ivana I; Joshi, Peter K PK; Launer, Lenore J LJ; Harris, Tamara B TB; Campbell, Harry H; Rudan, Igor I; Becker, Diane M DM; Li, Jun Z JZ; Rivadeneira, Fernando F; Uitterlinden, André G AG; Hofman, Albert A; Franco, Oscar H OH; Cushman, Mary M; Psaty, Bruce M BM; Morange, Pierre-Emmanuel PE; McKnight, Barbara B; Chong, Michael R MR; Fernandez-Cadenas, Israel I; Rosand, Jonathan J; Lindgren, Arne A; , ; Gudnason, Vilmundur V; Wilson, James F JF; Hayward, Caroline C; Ginsburg, David D; Fornage, Myriam M; Rosendaal, Frits R FR; Souto, Juan Carlos JC; Becker, Lewis C LC; Jenny, Nancy S NS; März, Winfried W; Jukema, J Wouter JW; Dehghan, Abbas A; Trégouët, David-Alexandre DA; Morrison, Alanna C AC; Johnson, Andrew D AD; O'Donnell, Christopher J CJ; Strachan, David P DP; Lowenstein, Charles J CJ; Smith, Nicholas L NL
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Publication Date: 2018-11-02
Variant appearance in text: VWF: G2705R; rs7962217
Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF.
Blood
Huffman, Jennifer E JE; de Vries, Paul S PS; Morrison, Alanna C AC; Sabater-Lleal, Maria M; Kacprowski, Tim T; Auer, Paul L PL; Brody, Jennifer A JA; Chasman, Daniel I DI; Chen, Ming-Huei MH; Guo, Xiuqing X; Lin, Li-An LA; Marioni, Riccardo E RE; Müller-Nurasyid, Martina M; Yanek, Lisa R LR; Pankratz, Nathan N; Grove, Megan L ML; de Maat, Moniek P M MP; Cushman, Mary M; Wiggins, Kerri L KL; Qi, Lihong L; Sennblad, Bengt B; Harris, Sarah E SE; Polasek, Ozren O; Riess, Helene H; Rivadeneira, Fernando F; Rose, Lynda M LM; Goel, Anuj A; Taylor, Kent D KD; Teumer, Alexander A; Uitterlinden, André G AG; Vaidya, Dhananjay D; Yao, Jie J; Tang, Weihong W; Levy, Daniel D; Waldenberger, Melanie M; Becker, Diane M DM; Folsom, Aaron R AR; Giulianini, Franco F; Greinacher, Andreas A; Hofman, Albert A; Huang, Chiang-Ching CC; Kooperberg, Charles C; Silveira, Angela A; Starr, John M JM; Strauch, Konstantin K; Strawbridge, Rona J RJ; Wright, Alan F AF; McKnight, Barbara B; Franco, Oscar H OH; Zakai, Neil N; Mathias, Rasika A RA; Psaty, Bruce M BM; Ridker, Paul M PM; Tofler, Geoffrey H GH; Völker, Uwe U; Watkins, Hugh H; Fornage, Myriam M; Hamsten, Anders A; Deary, Ian J IJ; Boerwinkle, Eric E; Koenig, Wolfgang W; Rotter, Jerome I JI; Hayward, Caroline C; Dehghan, Abbas A; Reiner, Alex P AP; O'Donnell, Christopher J CJ; Smith, Nicholas L NL
Publication Date: 2015-09-10
Variant appearance in text: VWF: Gly2705Arg; rs7962217
Gene-centric approach identifies new and known loci for FVIII activity and VWF antigen levels in European Americans and African Americans.
American Journal Of Hematology
Tang, Weihong W; Cushman, Mary M; Green, David D; Rich, Stephen S SS; Lange, Leslie A LA; Yang, Qiong Q; Tracy, Russell P RP; Tofler, Geoffrey H GH; Basu, Saonli S; Wilson, James G JG; Keating, Brendan J BJ; Weng, Lu-Chen LC; Taylor, Herman A HA; Jacobs, David R DR; Delaney, Joseph A JA; Palmer, Cameron D CD; Young, Taylor T; Pankow, James S JS; O'Donnell, Christopher J CJ; Smith, Nicholas L NL; Reiner, Alexander P AP; Folsom, Aaron R AR
Publication Date: 2015-06
Variant appearance in text: VWF: G2705R; rs7962217
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: VWF: G2705R; rs7962217
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014
Variant appearance in text: VWF: G2705R; rs7962217