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
Enrichment analyses identify shared associations for 25 quantitative traits in over 600,000 individuals from seven diverse ancestries.
American Journal Of Human Genetics
Smith, Samuel Pattillo SP; Shahamatdar, Sahar S; Cheng, Wei W; Zhang, Selena S; Paik, Joseph J; Graff, Misa M; Haiman, Christopher C; Matise, T C TC; North, Kari E KE; Peters, Ulrike U; Kenny, Eimear E; Gignoux, Chris C; Wojcik, Genevieve G; Crawford, Lorin L; Ramachandran, Sohini S
Genome-wide association study of high-sensitivity C-reactive protein, D-dimer, and interleukin-6 levels in multiethnic HIV+ cohorts.
Aids (London, England)
Sherman, Brad T BT; Hu, Xiaojun X; Singh, Kanal K; Haine, Lillian L; Rupert, Adam W AW; Neaton, James D JD; Lundgren, Jens D JD; Imamichi, Tomozumi T; Chang, Weizhong W; Lane, H Clifford HC; ,
A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.
Journal Of Medical Case Reports
García-Cárdenas, Jennyfer M JM; Zambrano, Ana Karina AK; Guevara-Ramírez, Patricia P; Guerrero, Santiago S; Runruil, Gabriel G; López-Cortés, Andrés A; Torres-Yaguana, Jorge P JP; Armendáriz-Castillo, Isaac I; Pérez-Villa, Andy A; Yumiceba, Verónica V; Leone, Paola E PE; Paz-Y-Miño, César C
Publication Date: 2020-08-31
Variant appearance in text: HNF1A: 1501+119G>T; rs2259816
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Genetic Study of Hepatocyte Nuclear Factor 1 Alpha Variants in Development of Early-Onset Diabetes Type 2 and Maturity-Onset Diabetes of the Young 3 in Iran.
Advanced Biomedical Research
Mohammadi, Aliasgar A; Eskandari, Ameneh A; Sarmadi, Akram A; Rahimi, Mehrali M; Iraj, Bijan B; Hashemipour, Mahin M; Chaleshtori, Morteza Hashmezadeh MH; Tabatabaiefar, Mohammad Amin MA
Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.
Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
Genome-wide association study of medication-use and associated disease in the UK Biobank.
Nature Communications
Wu, Yeda Y; Byrne, Enda M EM; Zheng, Zhili Z; Kemper, Kathryn E KE; Yengo, Loic L; Mallett, Andrew J AJ; Yang, Jian J; Visscher, Peter M PM; Wray, Naomi R NR
Discovery, fine-mapping, and conditional analyses of genetic variants associated with C-reactive protein in multiethnic populations using the Metabochip in the Population Architecture using Genomics and Epidemiology (PAGE) study.
Human Molecular Genetics
Kocarnik, Jonathan M JM; Richard, Melissa M; Graff, Misa M; Haessler, Jeffrey J; Bien, Stephanie S; Carlson, Chris C; Carty, Cara L CL; Reiner, Alexander P AP; Avery, Christy L CL; Ballantyne, Christie M CM; LaCroix, Andrea Z AZ; Assimes, Themistocles L TL; Barbalic, Maja M; Pankratz, Nathan N; Tang, Weihong W; Tao, Ran R; Chen, Dongquan D; Talavera, Gregory A GA; Daviglus, Martha L ML; Chirinos-Medina, Diana A DA; Pereira, Rocio R; Nishimura, Katie K; Bužková, Petra P; Best, Lyle G LG; Ambite, José Luis JL; Cheng, Iona I; Crawford, Dana C DC; Hindorff, Lucia A LA; Fornage, Myriam M; Heiss, Gerardo G; North, Kari E KE; Haiman, Christopher A CA; Peters, Ulrike U; Le Marchand, Loic L; Kooperberg, Charles C
Genetic variants of increased waist circumference in psychosis.
Psychiatric Genetics
Hukic, Dzana S DS; Ösby, Urban U; Olsson, Eric E; Hilding, Agneta A; Östenson, Claes-Göran CG; Gu, Harvest F HF; Ehrenborg, Ewa E; Edman, Gunnar G; Schalling, Martin M; Lavebratt, Catharina C; Frisén, Louise L
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Genetic risk, coronary heart disease events, and the clinical benefit of statin therapy: an analysis of primary and secondary prevention trials.
Lancet (London, England)
Mega, J L JL; Stitziel, N O NO; Smith, J G JG; Chasman, D I DI; Caulfield, M M; Devlin, J J JJ; Nordio, F F; Hyde, C C; Cannon, C P CP; Sacks, F F; Poulter, N N; Sever, P P; Ridker, P M PM; Braunwald, E E; Melander, O O; Kathiresan, S S; Sabatine, M S MS
Basic concepts and potential applications of genetics and genomics for cardiovascular and stroke clinicians: a scientific statement from the American Heart Association.
Circulation. Cardiovascular Genetics
Musunuru, Kiran K; Hickey, Kathleen T KT; Al-Khatib, Sana M SM; Delles, Christian C; Fornage, Myriam M; Fox, Caroline S CS; Frazier, Lorraine L; Gelb, Bruce D BD; Herrington, David M DM; Lanfear, David E DE; Rosand, Jonathan J; ,
A new susceptibility locus for myocardial infarction, hypertension, type 2 diabetes mellitus, and dyslipidemia on chromosome 12q24.
Disease Markers
Wakil, Salma M SM; Muiya, Nzioka P NP; Tahir, Asma I AI; Al-Najai, Mohammed M; Baz, Batoul B; Andres, Editha E; Mazhar, Nejat N; Al Tassan, Nada N; Alshahid, Maie M; Meyer, Brian F BF; Dzimiri, Nduna N
Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women.
American Journal Of Human Genetics
Reiner, Alex P AP; Beleza, Sandra S; Franceschini, Nora N; Auer, Paul L PL; Robinson, Jennifer G JG; Kooperberg, Charles C; Peters, Ulrike U; Tang, Hua H
Genetic markers enhance coronary risk prediction in men: the MORGAM prospective cohorts.
Plos One
Hughes, Maria F MF; Saarela, Olli O; Stritzke, Jan J; Kee, Frank F; Silander, Kaisa K; Klopp, Norman N; Kontto, Jukka J; Karvanen, Juha J; Willenborg, Christina C; Salomaa, Veikko V; Virtamo, Jarmo J; Amouyel, Phillippe P; Arveiler, Dominique D; Ferrières, Jean J; Wiklund, Per-Gunner PG; Baumert, Jens J; Thorand, Barbara B; Diemert, Patrick P; Trégouët, David-Alexandre DA; Hengstenberg, Christian C; Peters, Annette A; Evans, Alun A; Koenig, Wolfgang W; Erdmann, Jeanette J; Samani, Nilesh J NJ; Kuulasmaa, Kari K; Schunkert, Heribert H
A genetic risk score based on direct associations with coronary heart disease improves coronary heart disease risk prediction in the Atherosclerosis Risk in Communities (ARIC), but not in the Rotterdam and Framingham Offspring, Studies.
Atherosclerosis
Brautbar, Ariel A; Pompeii, Lisa A LA; Dehghan, Abbas A; Ngwa, Julius S JS; Nambi, Vijay V; Virani, Salim S SS; Rivadeneira, Fernando F; Uitterlinden, André G AG; Hofman, Albert A; Witteman, Jacqueline C M JC; Pencina, Michael J MJ; Folsom, Aaron R AR; Cupples, L Adrienne LA; Ballantyne, Christie M CM; Boerwinkle, Eric E
A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.
Plos Genetics
Naitza, Silvia S; Porcu, Eleonora E; Steri, Maristella M; Taub, Dennis D DD; Mulas, Antonella A; Xiao, Xiang X; Strait, James J; Dei, Mariano M; Lai, Sandra S; Busonero, Fabio F; Maschio, Andrea A; Usala, Gianluca G; Zoledziewska, Magdalena M; Sidore, Carlo C; Zara, Ilenia I; Pitzalis, Maristella M; Loi, Alessia A; Virdis, Francesca F; Piras, Roberta R; Deidda, Francesca F; Whalen, Michael B MB; Crisponi, Laura L; Concas, Antonio A; Podda, Carlo C; Uzzau, Sergio S; Scheet, Paul P; Longo, Dan L DL; Lakatta, Edward E; Abecasis, Gonçalo R GR; Cao, Antonio A; Schlessinger, David D; Uda, Manuela M; Sanna, Serena S; Cucca, Francesco F
The 1p13.3 LDL (C)-associated locus shows large effect sizes in young populations.
Pediatric Research
Devaney, Joseph M JM; Thompson, Paul D PD; Visich, Paul S PS; Saltarelli, William A WA; Gordon, Paul M PM; Orkunoglu-Suer, E Funda EF; Gordish-Dressman, Heather H; Harmon, Brennan T BT; Bradbury, Margaret K MK; Panchapakesan, Karuna K; Khianey, Rahul R; Hubal, Monica J MJ; Clarkson, Priscilla M PM; Pescatello, Linda S LS; Zoeller, Robert F RF; Moyna, Niall M NM; Angelopoulos, Theodore J TJ; Kraus, William E WE; Hoffman, Eric P EP
Effect of the rs2259816 polymorphism in the HNF1A gene on circulating levels of c-reactive protein and coronary artery disease (the ludwigshafen risk and cardiovascular health study).
Bmc Medical Genetics
Kleber, Marcus E ME; Grammer, Tanja B TB; Renner, Wilfried W; März, Winfried W
A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses.
Lancet (London, England)
Ripatti, Samuli S; Tikkanen, Emmi E; Orho-Melander, Marju M; Havulinna, Aki S AS; Silander, Kaisa K; Sharma, Amitabh A; Guiducci, Candace C; Perola, Markus M; Jula, Antti A; Sinisalo, Juha J; Lokki, Marja-Liisa ML; Nieminen, Markku S MS; Melander, Olle O; Salomaa, Veikko V; Peltonen, Leena L; Kathiresan, Sekar S
Improved prediction of cardiovascular disease based on a panel of single nucleotide polymorphisms identified through genome-wide association studies.
Circulation. Cardiovascular Genetics
Davies, Robert W RW; Dandona, Sonny S; Stewart, Alexandre F R AF; Chen, Li L; Ellis, Stephan G SG; Tang, W H Wilson WH; Hazen, Stanley L SL; Roberts, Robert R; McPherson, Ruth R; Wells, George A GA
New susceptibility locus for coronary artery disease on chromosome 3q22.3.
Nature Genetics
Erdmann, Jeanette J; Grosshennig, Anika A; Braund, Peter S PS; König, Inke R IR; Hengstenberg, Christian C; Hall, Alistair S AS; Linsel-Nitschke, Patrick P; Kathiresan, Sekar S; Wright, Ben B; Trégouët, David-Alexandre DA; Cambien, Francois F; Bruse, Petra P; Aherrahrou, Zouhair Z; Wagner, Arnika K AK; Stark, Klaus K; Schwartz, Stephen M SM; Salomaa, Veikko V; Elosua, Roberto R; Melander, Olle O; Voight, Benjamin F BF; O'Donnell, Christopher J CJ; Peltonen, Leena L; Siscovick, David S DS; Altshuler, David D; Merlini, Piera Angelica PA; Peyvandi, Flora F; Bernardinelli, Luisa L; Ardissino, Diego D; Schillert, Arne A; Blankenberg, Stefan S; Zeller, Tanja T; Wild, Philipp P; Schwarz, Daniel F DF; Tiret, Laurence L; Perret, Claire C; Schreiber, Stefan S; El Mokhtari, Nour Eddine NE; Schäfer, Arne A; März, Winfried W; Renner, Wilfried W; Bugert, Peter P; Klüter, Harald H; Schrezenmeir, Jürgen J; Rubin, Diana D; Ball, Stephen G SG; Balmforth, Anthony J AJ; Wichmann, H-Erich HE; Meitinger, Thomas T; Fischer, Marcus M; Meisinger, Christa C; Baumert, Jens J; Peters, Annette A; Ouwehand, Willem H WH; , ; , ; , ; , ; Deloukas, Panos P; Thompson, John R JR; Ziegler, Andreas A; Samani, Nilesh J NJ; Schunkert, Heribert H
Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein.
American Journal Of Human Genetics
Reiner, Alexander P AP; Barber, Mathew J MJ; Guan, Yongtao Y; Ridker, Paul M PM; Lange, Leslie A LA; Chasman, Daniel I DI; Walston, Jeremy D JD; Cooper, Gregory M GM; Jenny, Nancy S NS; Rieder, Mark J MJ; Durda, J Peter JP; Smith, Joshua D JD; Novembre, John J; Tracy, Russell P RP; Rotter, Jerome I JI; Stephens, Matthew M; Nickerson, Deborah A DA; Krauss, Ronald M RM