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
The Genetics of Non-Syndromic Primary Ovarian Insufficiency: A Systematic Review.
International Journal Of Fertility & Sterility
Venturella, Roberta R; De Vivo, Valentino V; Carlea, Annunziata A; D'Alessandro, Pietro P; Saccone, Gabriele G; Arduino, Bruno B; Improda, Francesco Paolo FP; Lico, Daniela D; Rania, Erika E; De Marco, Carmela C; Viglietto, Giuseppe G; Zullo, Fulvio F
Analysis of protein-coding genetic variation in 60,706 humans.
Nature
Lek, Monkol M; Karczewski, Konrad J KJ; Minikel, Eric V EV; Samocha, Kaitlin E KE; Banks, Eric E; Fennell, Timothy T; O'Donnell-Luria, Anne H AH; Ware, James S JS; Hill, Andrew J AJ; Cummings, Beryl B BB; Tukiainen, Taru T; Birnbaum, Daniel P DP; Kosmicki, Jack A JA; Duncan, Laramie E LE; Estrada, Karol K; Zhao, Fengmei F; Zou, James J; Pierce-Hoffman, Emma E; Berghout, Joanne J; Cooper, David N DN; Deflaux, Nicole N; DePristo, Mark M; Do, Ron R; Flannick, Jason J; Fromer, Menachem M; Gauthier, Laura L; Goldstein, Jackie J; Gupta, Namrata N; Howrigan, Daniel D; Kiezun, Adam A; Kurki, Mitja I MI; Moonshine, Ami Levy AL; Natarajan, Pradeep P; Orozco, Lorena L; Peloso, Gina M GM; Poplin, Ryan R; Rivas, Manuel A MA; Ruano-Rubio, Valentin V; Rose, Samuel A SA; Ruderfer, Douglas M DM; Shakir, Khalid K; Stenson, Peter D PD; Stevens, Christine C; Thomas, Brett P BP; Tiao, Grace G; Tusie-Luna, Maria T MT; Weisburd, Ben B; Won, Hong-Hee HH; Yu, Dongmei D; Altshuler, David M DM; Ardissino, Diego D; Boehnke, Michael M; Danesh, John J; Donnelly, Stacey S; Elosua, Roberto R; Florez, Jose C JC; Gabriel, Stacey B SB; Getz, Gad G; Glatt, Stephen J SJ; Hultman, Christina M CM; Kathiresan, Sekar S; Laakso, Markku M; McCarroll, Steven S; McCarthy, Mark I MI; McGovern, Dermot D; McPherson, Ruth R; Neale, Benjamin M BM; Palotie, Aarno A; Purcell, Shaun M SM; Saleheen, Danish D; Scharf, Jeremiah M JM; Sklar, Pamela P; Sullivan, Patrick F PF; Tuomilehto, Jaakko J; Tsuang, Ming T MT; Watkins, Hugh C HC; Wilson, James G JG; Daly, Mark J MJ; MacArthur, Daniel G DG; ,
Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.
Plos One
Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E
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: INHA: A257T; rs12720062
Inhibin alpha-subunit (INHA) expression in adrenocortical cancer is linked to genetic and epigenetic INHA promoter variation.
Plos One
Hofland, Johannes J; Steenbergen, Jacobie J; Voorsluijs, Jacoba M JM; Verbiest, Michael M P J MM; de Krijger, Ronald R RR; Hofland, Leo J LJ; de Herder, Wouter W WW; Uitterlinden, Andre G AG; Feelders, Richard A RA; de Jong, Frank H FH
Inhibin at 90: from discovery to clinical application, a historical review.
Endocrine Reviews
Makanji, Yogeshwar Y; Zhu, Jie J; Mishra, Rama R; Holmquist, Chris C; Wong, Winifred P S WP; Schwartz, Neena B NB; Mayo, Kelly E KE; Woodruff, Teresa K TK
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: INHA: A257T; rs12720062
Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes.
Diabetologia
Albrechtsen, A A; Grarup, N N; Li, Y Y; Sparsø, T T; Tian, G G; Cao, H H; Jiang, T T; Kim, S Y SY; Korneliussen, T T; Li, Q Q; Nie, C C; Wu, R R; Skotte, L L; Morris, A P AP; Ladenvall, C C; Cauchi, S S; Stančáková, A A; Andersen, G G; Astrup, A A; Banasik, K K; Bennett, A J AJ; Bolund, L L; Charpentier, G G; Chen, Y Y; Dekker, J M JM; Doney, A S F AS; Dorkhan, M M; Forsen, T T; Frayling, T M TM; Groves, C J CJ; Gui, Y Y; Hallmans, G G; Hattersley, A T AT; He, K K; Hitman, G A GA; Holmkvist, J J; Huang, S S; Jiang, H H; Jin, X X; Justesen, J M JM; Kristiansen, K K; Kuusisto, J J; Lajer, M M; Lantieri, O O; Li, W W; Liang, H H; Liao, Q Q; Liu, X X; Ma, T T; Ma, X X; Manijak, M P MP; Marre, M M; Mokrosiński, J J; Morris, A D AD; Mu, B B; Nielsen, A A AA; Nijpels, G G; Nilsson, P P; Palmer, C N A CN; Rayner, N W NW; Renström, F F; Ribel-Madsen, R R; Robertson, N N; Rolandsson, O O; Rossing, P P; Schwartz, T W TW; , ; Slagboom, P E PE; Sterner, M M; , ; Tang, M M; Tarnow, L L; Tuomi, T T; van't Riet, E E; van Leeuwen, N N; Varga, T V TV; Vestmar, M A MA; Walker, M M; Wang, B B; Wang, Y Y; Wu, H H; Xi, F F; Yengo, L L; Yu, C C; Zhang, X X; Zhang, J J; Zhang, Q Q; Zhang, W W; Zheng, H H; Zhou, Y Y; Altshuler, D D; 't Hart, L M LM; Franks, P W PW; Balkau, B B; Froguel, P P; McCarthy, M I MI; Laakso, M M; Groop, L L; Christensen, C C; Brandslund, I I; Lauritzen, T T; Witte, D R DR; Linneberg, A A; Jørgensen, T T; Hansen, T T; Wang, J J; Nielsen, R R; Pedersen, O O
Publication Date: 2013-02
Variant appearance in text: INHA: A257T; rs12720062