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
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.
Genomewide meta-analysis identifies loci associated with IGF-I and IGFBP-3 levels with impact on age-related traits.
Aging Cell
Teumer, Alexander A; Qi, Qibin Q; Nethander, Maria M; Aschard, Hugues H; Bandinelli, Stefania S; Beekman, Marian M; Berndt, Sonja I SI; Bidlingmaier, Martin M; Broer, Linda L; , ; Cappola, Anne A; Ceda, Gian Paolo GP; Chanock, Stephen S; Chen, Ming-Huei MH; Chen, Tai C TC; Chen, Yii-Der Ida YD; Chung, Jonathan J; Del Greco Miglianico, Fabiola F; Eriksson, Joel J; Ferrucci, Luigi L; Friedrich, Nele N; Gnewuch, Carsten C; Goodarzi, Mark O MO; Grarup, Niels N; Guo, Tingwei T; Hammer, Elke E; Hayes, Richard B RB; Hicks, Andrew A AA; Hofman, Albert A; Houwing-Duistermaat, Jeanine J JJ; Hu, Frank F; Hunter, David J DJ; Husemoen, Lise L LL; Isaacs, Aaron A; Jacobs, Kevin B KB; Janssen, Joop A M J L JA; Jansson, John-Olov JO; Jehmlich, Nico N; Johnson, Simon S; Juul, Anders A; Karlsson, Magnus M; Kilpelainen, Tuomas O TO; Kovacs, Peter P; Kraft, Peter P; Li, Chao C; Linneberg, Allan A; Liu, Yongmei Y; Loos, Ruth J F RJ; , ; Lorentzon, Mattias M; Lu, Yingchang Y; Maggio, Marcello M; Magi, Reedik R; Meigs, James J; Mellström, Dan D; Nauck, Matthias M; Newman, Anne B AB; Pollak, Michael N MN; Pramstaller, Peter P PP; Prokopenko, Inga I; Psaty, Bruce M BM; Reincke, Martin M; Rimm, Eric B EB; Rotter, Jerome I JI; Saint Pierre, Aude A; Schurmann, Claudia C; Seshadri, Sudha S; Sjögren, Klara K; Slagboom, P Eline PE; Strickler, Howard D HD; Stumvoll, Michael M; Suh, Yousin Y; Sun, Qi Q; Zhang, Cuilin C; Svensson, Johan J; Tanaka, Toshiko T; Tare, Archana A; Tönjes, Anke A; Uh, Hae-Won HW; van Duijn, Cornelia M CM; van Heemst, Diana D; Vandenput, Liesbeth L; Vasan, Ramachandran S RS; Völker, Uwe U; Willems, Sara M SM; Ohlsson, Claes C; Wallaschofski, Henri H; Kaplan, Robert C RC
Genetic associations of leptin-related polymorphisms with systemic lupus erythematosus.
Clinical Immunology (Orlando, Fla.)
Zhao, Jian J; Wu, Hui H; Langefeld, Carl D CD; Kaufman, Kenneth M KM; Kelly, Jennifer A JA; Bae, Sang-Cheol SC; , ; Alarcón, Graciela S GS; Anaya, Juan-Manuel JM; Criswell, Lindsey A LA; Freedman, Barry I BI; Kamen, Diane L DL; Gilkeson, Gary S GS; Jacob, Chaim O CO; James, Judith A JA; Merrill, Joan T JT; Gaffney, Patrick M PM; Sivils, Kathy Moser KM; Niewold, Timothy B TB; Petri, Michelle A MA; Song, Seung Taek ST; Jeong, Hye-Jin HJ; Ramsey-Goldman, Rosalind R; Reveille, John D JD; Scofield, R Hal RH; Stevens, Anne M AM; Boackle, Susan A SA; Vilá, Luis M LM; Chang, Deh-Ming DM; Song, Yeong Wook YW; Vyse, Timothy J TJ; Harley, John B JB; Brown, Elizabeth E EE; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Hahn, Bevra H BH; Grossman, Jennifer M JM; Tsao, Betty P BP; La Cava, Antonio A
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
Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits.
Nature Genetics
Yang, Jian J; Ferreira, Teresa T; Morris, Andrew P AP; Medland, Sarah E SE; , ; , ; Madden, Pamela A F PA; Heath, Andrew C AC; Martin, Nicholas G NG; Montgomery, Grant W GW; Weedon, Michael N MN; Loos, Ruth J RJ; Frayling, Timothy M TM; McCarthy, Mark I MI; Hirschhorn, Joel N JN; Goddard, Michael E ME; Visscher, Peter M PM
Human longevity and variation in GH/IGF-1/insulin signaling, DNA damage signaling and repair and pro/antioxidant pathway genes: cross sectional and longitudinal studies.
Experimental Gerontology
Soerensen, Mette M; Dato, Serena S; Tan, Qihua Q; Thinggaard, Mikael M; Kleindorp, Rabea R; Beekman, Marian M; Jacobsen, Rune R; Suchiman, H Eka D HE; de Craen, Anton J M AJ; Westendorp, Rudi G J RG; Schreiber, Stefan S; Stevnsner, Tinna T; Bohr, Vilhelm A VA; Slagboom, P Eline PE; Nebel, Almut A; Vaupel, James W JW; Christensen, Kaare K; McGue, Matt M; Christiansen, Lene L
Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
Nature Genetics
Soler Artigas, María M; Loth, Daan W DW; Wain, Louise V LV; Gharib, Sina A SA; Obeidat, Ma'en M; Tang, Wenbo W; Zhai, Guangju G; Zhao, Jing Hua JH; Smith, Albert Vernon AV; Huffman, Jennifer E JE; Albrecht, Eva E; Jackson, Catherine M CM; Evans, David M DM; Cadby, Gemma G; Fornage, Myriam M; Manichaikul, Ani A; Lopez, Lorna M LM; Johnson, Toby T; Aldrich, Melinda C MC; Aspelund, Thor T; Barroso, Inês I; Campbell, Harry H; Cassano, Patricia A PA; Couper, David J DJ; Eiriksdottir, Gudny G; Franceschini, Nora N; Garcia, Melissa M; Gieger, Christian C; Gislason, Gauti Kjartan GK; Grkovic, Ivica I; Hammond, Christopher J CJ; Hancock, Dana B DB; Harris, Tamara B TB; Ramasamy, Adaikalavan A; Heckbert, Susan R SR; Heliövaara, Markku M; Homuth, Georg G; Hysi, Pirro G PG; James, Alan L AL; Jankovic, Stipan S; Joubert, Bonnie R BR; Karrasch, Stefan S; Klopp, Norman N; Koch, Beate B; Kritchevsky, Stephen B SB; Launer, Lenore J LJ; Liu, Yongmei Y; Loehr, Laura R LR; Lohman, Kurt K; Loos, Ruth J F RJ; Lumley, Thomas T; Al Balushi, Khalid A KA; Ang, Wei Q WQ; Barr, R Graham RG; Beilby, John J; Blakey, John D JD; Boban, Mladen M; Boraska, Vesna V; Brisman, Jonas J; Britton, John R JR; Brusselle, Guy G GG; Cooper, Cyrus C; Curjuric, Ivan I; Dahgam, Santosh S; Deary, Ian J IJ; Ebrahim, Shah S; Eijgelsheim, Mark M; Francks, Clyde C; Gaysina, Darya D; Granell, Raquel R; Gu, Xiangjun X; Hankinson, John L JL; Hardy, Rebecca R; Harris, Sarah E SE; Henderson, John J; Henry, Amanda A; Hingorani, Aroon D AD; Hofman, Albert A; Holt, Patrick G PG; Hui, Jennie J; Hunter, Michael L ML; Imboden, Medea M; Jameson, Karen A KA; Kerr, Shona M SM; Kolcic, Ivana I; Kronenberg, Florian F; Liu, Jason Z JZ; Marchini, Jonathan J; McKeever, Tricia T; Morris, Andrew D AD; Olin, Anna-Carin AC; Porteous, David J DJ; Postma, Dirkje S DS; Rich, Stephen S SS; Ring, Susan M SM; Rivadeneira, Fernando F; Rochat, Thierry T; Sayer, Avan Aihie AA; Sayers, Ian I; Sly, Peter D PD; Smith, George Davey GD; Sood, Akshay A; Starr, John M JM; Uitterlinden, André G AG; Vonk, Judith M JM; Wannamethee, S Goya SG; Whincup, Peter H PH; Wijmenga, Cisca C; Williams, O Dale OD; Wong, Andrew A; Mangino, Massimo M; Marciante, Kristin D KD; McArdle, Wendy L WL; Meibohm, Bernd B; Morrison, Alanna C AC; North, Kari E KE; Omenaas, Ernst E; Palmer, Lyle J LJ; Pietiläinen, Kirsi H KH; Pin, Isabelle I; Pola Sbreve Ek, Ozren O; Pouta, Anneli A; Psaty, Bruce M BM; Hartikainen, Anna-Liisa AL; Rantanen, Taina T; Ripatti, Samuli S; Rotter, Jerome I JI; Rudan, Igor I; Rudnicka, Alicja R AR; Schulz, Holger H; Shin, So-Youn SY; Spector, Tim D TD; Surakka, Ida I; Vitart, Veronique V; Völzke, Henry H; Wareham, Nicholas J NJ; Warrington, Nicole M NM; Wichmann, H-Erich HE; Wild, Sarah H SH; Wilk, Jemma B JB; Wjst, Matthias M; Wright, Alan F AF; Zgaga, Lina L; Zemunik, Tatijana T; Pennell, Craig E CE; Nyberg, Fredrik F; Kuh, Diana D; Holloway, John W JW; Boezen, H Marike HM; Lawlor, Debbie A DA; Morris, Richard W RW; Probst-Hensch, Nicole N; , ; , ; Kaprio, Jaakko J; Wilson, James F JF; Hayward, Caroline C; Kähönen, Mika M; Heinrich, Joachim J; Musk, Arthur W AW; Jarvis, Deborah L DL; Gläser, Sven S; Järvelin, Marjo-Riitta MR; Ch Stricker, Bruno H BH; Elliott, Paul P; O'Connor, George T GT; Strachan, David P DP; London, Stephanie J SJ; Hall, Ian P IP; Gudnason, Vilmundur V; Tobin, Martin D MD
Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.
American Journal Of Human Genetics
Lanktree, Matthew B MB; Guo, Yiran Y; Murtaza, Muhammed M; Glessner, Joseph T JT; Bailey, Swneke D SD; Onland-Moret, N Charlotte NC; Lettre, Guillaume G; Ongen, Halit H; Rajagopalan, Ramakrishnan R; Johnson, Toby T; Shen, Haiqing H; Nelson, Christopher P CP; Klopp, Norman N; Baumert, Jens J; Padmanabhan, Sandosh S; Pankratz, Nathan N; Pankow, James S JS; Shah, Sonia S; Taylor, Kira K; Barnard, John J; Peters, Bas J BJ; Maloney, Cliona M CM; Lobmeyer, Maximilian T MT; Stanton, Alice A; Zafarmand, M Hadi MH; Romaine, Simon P R SP; Mehta, Amar A; van Iperen, Erik P A EP; Gong, Yan Y; Price, Tom S TS; Smith, Erin N EN; Kim, Cecilia E CE; Li, Yun R YR; Asselbergs, Folkert W FW; Atwood, Larry D LD; Bailey, Kristian M KM; Bhatt, Deepak D; Bauer, Florianne F; Behr, Elijah R ER; Bhangale, Tushar T; Boer, Jolanda M A JM; Boehm, Bernhard O BO; Bradfield, Jonathan P JP; Brown, Morris M; Braund, Peter S PS; Burton, Paul R PR; Carty, Cara C; Chandrupatla, Hareesh R HR; Chen, Wei W; Connell, John J; Dalgeorgou, Chrysoula C; Boer, Anthonius de Ad; Drenos, Fotios F; Elbers, Clara C CC; Fang, James C JC; Fox, Caroline S CS; Frackelton, Edward C EC; Fuchs, Barry B; Furlong, Clement E CE; Gibson, Quince Q; Gieger, Christian C; Goel, Anuj A; Grobbee, Diederik E DE; Hastie, Claire C; Howard, Philip J PJ; Huang, Guan-Hua GH; Johnson, W Craig WC; Li, Qing Q; Kleber, Marcus E ME; Klein, Barbara E K BE; Klein, Ronald R; Kooperberg, Charles C; Ky, Bonnie B; Lacroix, Andrea A; Lanken, Paul P; Lathrop, Mark M; Li, Mingyao M; Marshall, Vanessa V; Melander, Olle O; Mentch, Frank D FD; Meyer, Nuala J NJ; Monda, Keri L KL; Montpetit, Alexandre A; Murugesan, Gurunathan G; Nakayama, Karen K; Nondahl, Dave D; Onipinla, Abiodun A; Rafelt, Suzanne S; Newhouse, Stephen J SJ; Otieno, F George FG; Patel, Sanjey R SR; Putt, Mary E ME; Rodriguez, Santiago S; Safa, Radwan N RN; Sawyer, Douglas B DB; Schreiner, Pamela J PJ; Simpson, Claire C; Sivapalaratnam, Suthesh S; Srinivasan, Sathanur R SR; Suver, Christine C; Swergold, Gary G; Sweitzer, Nancy K NK; Thomas, Kelly A KA; Thorand, Barbara B; Timpson, Nicholas J NJ; Tischfield, Sam S; Tobin, Martin M; Tomaszewski, Maciej M; Tomaszweski, Maciej M; Verschuren, W M Monique WM; Wallace, Chris C; Winkelmann, Bernhard B; Zhang, Haitao H; Zheng, Dongling D; Zhang, Li L; Zmuda, Joseph M JM; Clarke, Robert R; Balmforth, Anthony J AJ; Danesh, John J; Day, Ian N IN; Schork, Nicholas J NJ; de Bakker, Paul I W PI; Delles, Christian C; Duggan, David D; Hingorani, Aroon D AD; Hirschhorn, Joel N JN; Hofker, Marten H MH; Humphries, Steve E SE; Kivimaki, Mika M; Lawlor, Debbie A DA; Kottke-Marchant, Kandice K; Mega, Jessica L JL; Mitchell, Braxton D BD; Morrow, David A DA; Palmen, Jutta J; Redline, Susan S; Shields, Denis C DC; Shuldiner, Alan R AR; Sleiman, Patrick M PM; Smith, George Davey GD; Farrall, Martin M; Jamshidi, Yalda Y; Christiani, David C DC; Casas, Juan P JP; Hall, Alistair S AS; Doevendans, Pieter A PA; Christie, Jason D JD; Berenson, Gerald S GS; Murray, Sarah S SS; Illig, Thomas T; Dorn, Gerald W GW; Cappola, Thomas P TP; Boerwinkle, Eric E; Sever, Peter P; Rader, Daniel J DJ; Reilly, Muredach P MP; Caulfield, Mark M; Talmud, Philippa J PJ; Topol, Eric E; Engert, James C JC; Wang, Kai K; Dominiczak, Anna A; Hamsten, Anders A; Curtis, Sean P SP; Silverstein, Roy L RL; Lange, Leslie A LA; Sabatine, Marc S MS; Trip, Mieke M; Saleheen, Danish D; Peden, John F JF; Cruickshanks, Karen J KJ; März, Winfried W; O'Connell, Jeffrey R JR; Klungel, Olaf H OH; Wijmenga, Cisca C; Maitland-van der Zee, Anke Hilse AH; Schadt, Eric E EE; Johnson, Julie A JA; Jarvik, Gail P GP; Papanicolaou, George J GJ; , ; Grant, Struan F A SF; Munroe, Patricia B PB; North, Kari E KE; Samani, Nilesh J NJ; Koenig, Wolfgang W; Gaunt, Tom R TR; Anand, Sonia S SS; van der Schouw, Yvonne T YT; , ; Soranzo, Nicole N; Fitzgerald, Garret A GA; Reiner, Alex A; Hegele, Robert A RA; Hakonarson, Hakon H; Keating, Brendan J BJ
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
Nature
Lango Allen, Hana H; Estrada, Karol K; Lettre, Guillaume G; Berndt, Sonja I SI; Weedon, Michael N MN; Rivadeneira, Fernando F; Willer, Cristen J CJ; Jackson, Anne U AU; Vedantam, Sailaja S; Raychaudhuri, Soumya S; Ferreira, Teresa T; Wood, Andrew R AR; Weyant, Robert J RJ; Segrè, Ayellet V AV; Speliotes, Elizabeth K EK; Wheeler, Eleanor E; Soranzo, Nicole N; Park, Ju-Hyun JH; Yang, Jian J; Gudbjartsson, Daniel D; Heard-Costa, Nancy L NL; Randall, Joshua C JC; Qi, Lu L; Vernon Smith, Albert A; Mägi, Reedik R; Pastinen, Tomi T; Liang, Liming L; Heid, Iris M IM; Luan, Jian'an J; Thorleifsson, Gudmar G; Winkler, Thomas W TW; Goddard, Michael E ME; Sin Lo, Ken K; Palmer, Cameron C; Workalemahu, Tsegaselassie T; Aulchenko, Yurii S YS; Johansson, Asa A; Zillikens, M Carola MC; Feitosa, Mary F MF; Esko, Tõnu T; Johnson, Toby T; Ketkar, Shamika S; Kraft, Peter P; Mangino, Massimo M; Prokopenko, Inga I; Absher, Devin D; Albrecht, Eva E; Ernst, Florian F; Glazer, Nicole L NL; Hayward, Caroline C; Hottenga, Jouke-Jan JJ; Jacobs, Kevin B KB; Knowles, Joshua W JW; Kutalik, Zoltán Z; Monda, Keri L KL; Polasek, Ozren O; Preuss, Michael M; Rayner, Nigel W NW; Robertson, Neil R NR; Steinthorsdottir, Valgerdur V; Tyrer, Jonathan P JP; Voight, Benjamin F BF; Wiklund, Fredrik F; Xu, Jianfeng J; Zhao, Jing Hua JH; Nyholt, Dale R DR; Pellikka, Niina N; Perola, Markus M; Perry, John R B JR; Surakka, Ida I; Tammesoo, Mari-Liis ML; Altmaier, Elizabeth L EL; Amin, Najaf N; Aspelund, Thor T; Bhangale, Tushar T; Boucher, Gabrielle G; Chasman, Daniel I DI; Chen, Constance C; Coin, Lachlan L; Cooper, Matthew N MN; Dixon, Anna L AL; Gibson, Quince Q; Grundberg, Elin E; Hao, Ke K; Juhani Junttila, M M; Kaplan, Lee M LM; Kettunen, Johannes J; König, Inke R IR; Kwan, Tony T; Lawrence, Robert W RW; Levinson, Douglas F DF; Lorentzon, Mattias M; McKnight, Barbara B; Morris, Andrew P AP; Müller, Martina M; Suh Ngwa, Julius J; Purcell, Shaun S; Rafelt, Suzanne S; Salem, Rany M RM; Salvi, Erika E; Sanna, Serena S; 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Ghrelin receptor gene polymorphisms and body size in children and adults.
The Journal Of Clinical Endocrinology And Metabolism
Garcia, Edwin A EA; Heude, Barbara B; Petry, Clive J CJ; Gueorguiev, Maria M; Hassan-Smith, Zaki K ZK; Spanou, Antigoni A; Ring, Susan M SM; Dunger, David B DB; Wareham, Nicholas N; Sandhu, Manjinder S MS; Ong, Ken K KK; Korbonits, Márta M
Genetic linkage and association of the growth hormone secretagogue receptor (ghrelin receptor) gene in human obesity.
Diabetes
Baessler, Andrea A; Hasinoff, Michael J MJ; Fischer, Marcus M; Reinhard, Wibke W; Sonnenberg, Gabriele E GE; Olivier, Michael M; Erdmann, Jeanette J; Schunkert, Heribert H; Doering, Angela A; Jacob, Howard J HJ; Comuzzie, Anthony G AG; Kissebah, Ahmed H AH; Kwitek, Anne E AE