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
Longitudinal RNA-Seq Analysis of the Repeatability of Gene Expression and Splicing in Human Platelets Identifies a Platelet SELP Splice QTL.
Circulation Research
Rondina, Matthew T MT; Voora, Deepak D; Simon, Lukas M LM; Schwertz, Hansjörg H; Harper, Julie F JF; Lee, Olivia O; Bhatlekar, Seema C SC; Li, Qing Q; Eustes, Alicia S AS; Montenont, Emilie E; Campbell, Robert A RA; Tolley, Neal D ND; Kosaka, Yasuhiro Y; Weyrich, Andrew S AS; Bray, Paul F PF; Rowley, Jesse W JW
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
Multiethnic Genome-Wide Association Study of Diabetic Retinopathy Using Liability Threshold Modeling of Duration of Diabetes and Glycemic Control.
Diabetes
Pollack, Samuela S; Igo, Robert P RP; Jensen, Richard A RA; Christiansen, Mark M; Li, Xiaohui X; Cheng, Ching-Yu CY; Ng, Maggie C Y MCY; Smith, Albert V AV; Rossin, Elizabeth J EJ; Segrè, Ayellet V AV; Davoudi, Samaneh S; Tan, Gavin S GS; Chen, Yii-Der Ida YI; Kuo, Jane Z JZ; Dimitrov, Latchezar M LM; Stanwyck, Lynn K LK; Meng, Weihua W; Hosseini, S Mohsen SM; Imamura, Minako M; Nousome, Darryl D; Kim, Jihye J; Hai, Yang Y; Jia, Yucheng Y; Ahn, Jeeyun J; Leong, Aaron A; Shah, Kaanan K; Park, Kyu Hyung KH; Guo, Xiuqing X; Ipp, Eli E; Taylor, Kent D KD; Adler, Sharon G SG; Sedor, John R JR; Freedman, Barry I BI; , ; Lee, I-Te IT; Sheu, Wayne H-H WH; Kubo, Michiaki M; Takahashi, Atsushi A; Hadjadj, Samy S; Marre, Michel M; Tregouet, David-Alexandre DA; Mckean-Cowdin, Roberta R; Varma, Rohit R; McCarthy, Mark I MI; Groop, Leif L; Ahlqvist, Emma E; Lyssenko, Valeriya V; Agardh, Elisabet E; Morris, Andrew A; Doney, Alex S F ASF; Colhoun, Helen M HM; Toppila, Iiro I; Sandholm, Niina N; Groop, Per-Henrik PH; Maeda, Shiro S; Hanis, Craig L CL; Penman, Alan A; Chen, Ching J CJ; Hancock, Heather H; Mitchell, Paul P; Craig, Jamie E JE; Chew, Emily Y EY; Paterson, Andrew D AD; Grassi, Michael A MA; Palmer, Colin C; Bowden, Donald W DW; Yaspan, Brian L BL; Siscovick, David D; Cotch, Mary Frances MF; Wang, Jie Jin JJ; Burdon, Kathryn P KP; Wong, Tien Y TY; Klein, Barbara E K BEK; Klein, Ronald R; Rotter, Jerome I JI; Iyengar, Sudha K SK; Price, Alkes L AL; Sobrin, Lucia L
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.
Increased Soluble VCAM-1 and Normal P-Selectin in Cystic Fibrosis: a Cross-Sectional Study.
Lung
Nowak, Jan K JK; Wojsyk-Banaszak, Irena I; Mądry, Edyta E; Wykrętowicz, Andrzej A; Krzyżanowska, Patrycja P; Drzymała-Czyż, Sławomira S; Nowicka, Agata A; Pogorzelski, Andrzej A; Sapiejka, Ewa E; Skorupa, Wojciech W; Szczepanik, Mariusz M; Lisowska, Aleksandra A; Walkowiak, Jaroslaw J
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
Candidate gene association study for diabetic retinopathy in persons with type 2 diabetes: the Candidate gene Association Resource (CARe).
Investigative Ophthalmology & Visual Science
Sobrin, Lucia L; Green, Todd T; Sim, Xueling X; Jensen, Richard A RA; Tai, E Shyong ES; Tay, Wan Ting WT; Wang, Jie Jin JJ; Mitchell, Paul P; Sandholm, Niina N; Liu, Yiyuan Y; Hietala, Kustaa K; Iyengar, Sudha K SK; , ; Brooks, Matthew M; Buraczynska, Monika M; Van Zuydam, Natalie N; Smith, Albert V AV; Gudnason, Vilmundur V; Doney, Alex S F AS; Morris, Andrew D AD; Leese, Graham P GP; Palmer, Colin N A CN; , ; Swaroop, Anand A; Taylor, Herman A HA; Wilson, James G JG; Penman, Alan A; Chen, Ching J CJ; Groop, Per-Henrik PH; Saw, Seang-Mei SM; Aung, Tin T; Klein, Barbara E BE; Rotter, Jerome I JI; Siscovick, David S DS; Cotch, Mary Frances MF; Klein, Ronald R; Daly, Mark J MJ; Wong, Tien Y TY
Soluble P-selectin, SELP polymorphisms, and atherosclerotic risk in European-American and African-African young adults: the Coronary Artery Risk Development in Young Adults (CARDIA) Study.
Arteriosclerosis, Thrombosis, And Vascular Biology
Reiner, Alexander P AP; Carlson, Christopher S CS; Thyagarajan, Bharat B; Rieder, Mark J MJ; Polak, Joseph F JF; Siscovick, David S DS; Nickerson, Deborah A DA; Jacobs, David R DR; Gross, Myron D MD