Evaluating the Occurrence of Rare Variants in the Complement Factor H Gene in Patients With Early-Onset Drusen Maculopathy.
Jama Ophthalmology
de Breuk, Anita A; Heesterbeek, Thomas J TJ; Bakker, Bjorn B; Verzijden, Timo T; Lechanteur, Yara T E YTE; Klaver, Caroline C W CCW; den Hollander, Anneke I AI; Hoyng, Carel B CB
Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.
Nature Communications
Nielsen, Jonas B JB; Rom, Oren O; Surakka, Ida I; Graham, Sarah E SE; Zhou, Wei W; Roychowdhury, Tanmoy T; Fritsche, Lars G LG; Gagliano Taliun, Sarah A SA; Sidore, Carlo C; Liu, Yuhao Y; Gabrielsen, Maiken E ME; Skogholt, Anne Heidi AH; Wolford, Brooke B; Overton, William W; Zhao, Ying Y; Chen, Jin J; Zhang, He H; Hornsby, Whitney E WE; Acheampong, Akua A; Grooms, Austen A; Schaefer, Amanda A; Zajac, Gregory J M GJM; Villacorta, Luis L; Zhang, Jifeng J; Brumpton, Ben B; Løset, Mari M; Rai, Vivek V; Lundegaard, Pia R PR; Olesen, Morten S MS; Taylor, Kent D KD; Palmer, Nicholette D ND; Chen, Yii-Der YD; Choi, Seung H SH; Lubitz, Steven A SA; Ellinor, Patrick T PT; Barnes, Kathleen C KC; Daya, Michelle M; Rafaels, Nicholas N; Weiss, Scott T ST; Lasky-Su, Jessica J; Tracy, Russell P RP; Vasan, Ramachandran S RS; Cupples, L Adrienne LA; Mathias, Rasika A RA; Yanek, Lisa R LR; Becker, Lewis C LC; Peyser, Patricia A PA; Bielak, Lawrence F LF; Smith, Jennifer A JA; Aslibekyan, Stella S; Hidalgo, Bertha A BA; Arnett, Donna K DK; Irvin, Marguerite R MR; Wilson, James G JG; Musani, Solomon K SK; Correa, Adolfo A; Rich, Stephen S SS; Guo, Xiuqing X; Rotter, Jerome I JI; Konkle, Barbara A BA; Johnsen, Jill M JM; Ashley-Koch, Allison E AE; Telen, Marilyn J MJ; Sheehan, Vivien A VA; Blangero, John J; Curran, Joanne E JE; Peralta, Juan M JM; Montgomery, Courtney C; Sheu, Wayne H-H WH; Chung, Ren-Hua RH; Schwander, Karen K; Nouraie, Seyed M SM; Gordeuk, Victor R VR; Zhang, Yingze Y; Kooperberg, Charles C; Reiner, Alexander P AP; Jackson, Rebecca D RD; Bleecker, Eugene R ER; Meyers, Deborah A DA; Li, Xingnan X; Das, Sayantan S; Yu, Ketian K; LeFaive, Jonathon J; Smith, Albert A; Blackwell, Tom T; Taliun, Daniel D; Zollner, Sebastian S; Forer, Lukas L; Schoenherr, Sebastian S; Fuchsberger, Christian C; Pandit, Anita A; Zawistowski, Matthew M; Kheterpal, Sachin S; Brummett, Chad M CM; Natarajan, Pradeep P; Schlessinger, David D; Lee, Seunggeun S; Kang, Hyun Min HM; Cucca, Francesco F; Holmen, Oddgeir L OL; Åsvold, Bjørn O BO; Boehnke, Michael M; Kathiresan, Sekar S; Abecasis, Goncalo R GR; Chen, Y Eugene YE; Willer, Cristen J CJ; Hveem, Kristian K
Baseline characteristics and age-related macular degeneration in participants of the "ASPirin in Reducing Events in the Elderly" (ASPREE)-AMD trial.
Contemporary Clinical Trials Communications
Robman, Liubov D LD; Phuong Thao, Le Thi LT; Guymer, Robyn H RH; Wolfe, Rory R; Woods, Robyn L RL; Hodgson, Lauren Ab LA; Phung, James J; Makeyeva, Galina A GA; Le-Pham, Y-Anh YA; Orchard, Suzanne G SG; Suleiman, Jewhara J; Maguire, Emily E; Trevaks, Ruth E RE; Ward, Stephanie A SA; Riaz, Moeen M; Lacaze, Paul P; Storey, Elsdon E; Abhayaratna, Walter P WP; Nelson, Mark R MR; Ernst, Michael E ME; Reid, Christopher M CM; McNeil, John J JJ; ,
Association of plasma trace element levels with neovascular age-related macular degeneration.
Experimental Eye Research
Heesterbeek, Thomas J TJ; Rouhi-Parkouhi, Mansour M; Church, Stephanie J SJ; Lechanteur, Yara T YT; Lorés-Motta, Laura L; Kouvatsos, Nikolaos N; Clark, Simon J SJ; Bishop, Paul N PN; Hoyng, Carel B CB; den Hollander, Anneke I AI; Unwin, Richard D RD; Day, Anthony J AJ
Rare variants and loci for age-related macular degeneration in the Ohio and Indiana Amish.
Human Genetics
Waksmunski, Andrea R AR; Igo, Robert P RP; Song, Yeunjoo E YE; Cooke Bailey, Jessica N JN; Laux, Renee R; Fuzzell, Denise D; Fuzzell, Sarada S; Adams, Larry D LD; Caywood, Laura L; Prough, Michael M; Stambolian, Dwight D; Scott, William K WK; Pericak-Vance, Margaret A MA; Haines, Jonathan L JL
Impaired ABCA1/ABCG1-mediated lipid efflux in the mouse retinal pigment epithelium (RPE) leads to retinal degeneration.
Elife
Storti, Federica F; Klee, Katrin K; Todorova, Vyara V; Steiner, Regula R; Othman, Alaa A; van der Velde-Visser, Saskia S; Samardzija, Marijana M; Meneau, Isabelle I; Barben, Maya M; Karademir, Duygu D; Pauzuolyte, Valda V; Boye, Sanford L SL; Blaser, Frank F; Ullmer, Christoph C; Dunaief, Joshua L JL; Hornemann, Thorsten T; Rohrer, Lucia L; den Hollander, Anneke A; von Eckardstein, Arnold A; Fingerle, Jürgen J; Maugeais, Cyrille C; Grimm, Christian C
Progression of Geographic Atrophy in Age-related Macular Degeneration: AREDS2 Report Number 16.
Ophthalmology
Keenan, Tiarnan D TD; Agrón, Elvira E; Domalpally, Amitha A; Clemons, Traci E TE; van Asten, Freekje F; Wong, Wai T WT; Danis, Ronald G RG; Sadda, SriniVas S; Rosenfeld, Philip J PJ; Klein, Michael L ML; Ratnapriya, Rinki R; Swaroop, Anand A; Ferris, Frederick L FL; Chew, Emily Y EY; ,
Genome-wide analysis of disease progression in age-related macular degeneration.
Human Molecular Genetics
Yan, Qi Q; Ding, Ying Y; Liu, Yi Y; Sun, Tao T; Fritsche, Lars G LG; Clemons, Traci T; Ratnapriya, Rinki R; Klein, Michael L ML; Cook, Richard J RJ; Liu, Yu Y; Fan, Ruzong R; Wei, Lai L; Abecasis, Gonçalo R GR; Swaroop, Anand A; Chew, Emily Y EY; , ; Weeks, Daniel E DE; Chen, Wei W
Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.
Genome Medicine
Nagy, Reka R; Boutin, Thibaud S TS; Marten, Jonathan J; Huffman, Jennifer E JE; Kerr, Shona M SM; Campbell, Archie A; Evenden, Louise L; Gibson, Jude J; Amador, Carmen C; Howard, David M DM; Navarro, Pau P; Morris, Andrew A; Deary, Ian J IJ; Hocking, Lynne J LJ; Padmanabhan, Sandosh S; Smith, Blair H BH; Joshi, Peter P; Wilson, James F JF; Hastie, Nicholas D ND; Wright, Alan F AF; McIntosh, Andrew M AM; Porteous, David J DJ; Haley, Chris S CS; Vitart, Veronique V; Hayward, Caroline C
Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps.
Nature Genetics
Iotchkova, Valentina V; Huang, Jie J; Morris, John A JA; Jain, Deepti D; Barbieri, Caterina C; Walter, Klaudia K; Min, Josine L JL; Chen, Lu L; Astle, William W; Cocca, Massimilian M; Deelen, Patrick P; Elding, Heather H; Farmaki, Aliki-Eleni AE; Franklin, Christopher S CS; Franberg, Mattias M; Gaunt, Tom R TR; Hofman, Albert A; Jiang, Tao T; Kleber, Marcus E ME; Lachance, Genevieve G; Luan, Jian'an J; Malerba, Giovanni G; Matchan, Angela A; Mead, Daniel D; Memari, Yasin Y; Ntalla, Ioanna I; Panoutsopoulou, Kalliope K; Pazoki, Raha R; Perry, John R B JRB; Rivadeneira, Fernando F; Sabater-Lleal, Maria M; Sennblad, Bengt B; Shin, So-Youn SY; Southam, Lorraine L; Traglia, Michela M; van Dijk, Freerk F; van Leeuwen, Elisabeth M EM; Zaza, Gianluigi G; Zhang, Weihua W; , ; Amin, Najaf N; Butterworth, Adam A; Chambers, John C JC; Dedoussis, George G; Dehghan, Abbas A; Franco, Oscar H OH; Franke, Lude L; Frontini, Mattia M; Gambaro, Giovanni G; Gasparini, Paolo P; Hamsten, Anders A; Issacs, Aaron A; Kooner, Jaspal S JS; Kooperberg, Charles C; Langenberg, Claudia C; Marz, Winfried W; Scott, Robert A RA; Swertz, Morris A MA; Toniolo, Daniela D; Uitterlinden, Andre G AG; van Duijn, Cornelia M CM; Watkins, Hugh H; Zeggini, Eleftheria E; Maurano, Mathew T MT; Timpson, Nicholas J NJ; Reiner, Alexander P AP; Auer, Paul L PL; Soranzo, Nicole N
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.
Nature Genetics
Fritsche, Lars G LG; Igl, Wilmar W; Bailey, Jessica N Cooke JN; Grassmann, Felix F; Sengupta, Sebanti S; Bragg-Gresham, Jennifer L JL; Burdon, Kathryn P KP; Hebbring, Scott J SJ; Wen, Cindy C; Gorski, Mathias M; Kim, Ivana K IK; Cho, David D; Zack, Donald D; Souied, Eric E; Scholl, Hendrik P N HP; Bala, Elisa E; Lee, Kristine E KE; Hunter, David J DJ; Sardell, Rebecca J RJ; Mitchell, Paul P; Merriam, Joanna E JE; Cipriani, Valentina V; Hoffman, Joshua D JD; Schick, Tina T; Lechanteur, Yara T E YT; Guymer, Robyn H RH; Johnson, Matthew P MP; Jiang, Yingda Y; Stanton, Chloe M CM; Buitendijk, Gabriëlle H S GH; Zhan, Xiaowei X; Kwong, Alan M AM; Boleda, Alexis A; Brooks, Matthew M; Gieser, Linn L; Ratnapriya, Rinki R; Branham, Kari E KE; Foerster, Johanna R JR; Heckenlively, John R JR; Othman, Mohammad I MI; Vote, Brendan J BJ; Liang, Helena Hai HH; Souzeau, Emmanuelle E; McAllister, Ian L IL; Isaacs, Timothy T; Hall, Janette J; Lake, Stewart S; Mackey, David A DA; Constable, Ian J IJ; Craig, Jamie E JE; Kitchner, Terrie E TE; Yang, Zhenglin Z; Su, Zhiguang Z; Luo, Hongrong H; Chen, Daniel D; Ouyang, Hong H; Flagg, Ken K; Lin, Danni D; Mao, Guanping G; Ferreyra, Henry H; Stark, Klaus K; von Strachwitz, Claudia N CN; Wolf, Armin A; Brandl, Caroline C; Rudolph, Guenther G; Olden, Matthias M; Morrison, Margaux A MA; Morgan, Denise J DJ; Schu, Matthew M; Ahn, Jeeyun J; Silvestri, Giuliana G; Tsironi, Evangelia E EE; Park, Kyu Hyung KH; Farrer, Lindsay A LA; Orlin, Anton A; Brucker, Alexander A; Li, Mingyao M; Curcio, Christine A CA; Mohand-Saïd, Saddek S; Sahel, José-Alain JA; Audo, Isabelle I; Benchaboune, Mustapha M; Cree, Angela J AJ; Rennie, Christina A CA; Goverdhan, Srinivas V SV; Grunin, Michelle M; Hagbi-Levi, Shira S; Campochiaro, Peter P; Katsanis, Nicholas N; Holz, Frank G FG; Blond, Frédéric F; Blanché, Hélène H; Deleuze, Jean-François JF; Igo, Robert P RP; Truitt, Barbara B; Peachey, Neal S NS; Meuer, Stacy M SM; Myers, Chelsea E CE; Moore, Emily L EL; Klein, Ronald R; Hauser, Michael A MA; Postel, Eric A EA; Courtenay, Monique D MD; Schwartz, Stephen G SG; Kovach, Jaclyn L JL; Scott, William K WK; Liew, Gerald G; Tan, Ava G AG; Gopinath, Bamini B; Merriam, John C JC; Smith, R Theodore RT; Khan, Jane C JC; Shahid, Humma H; Moore, Anthony T AT; McGrath, J Allie JA; Laux, Reneé R; Brantley, Milam A MA; Agarwal, Anita A; Ersoy, Lebriz L; Caramoy, Albert A; Langmann, Thomas T; Saksens, Nicole T M NT; de Jong, Eiko K EK; Hoyng, Carel B CB; Cain, Melinda S MS; Richardson, Andrea J AJ; Martin, Tammy M TM; Blangero, John J; Weeks, Daniel E DE; Dhillon, Bal B; van Duijn, Cornelia M CM; Doheny, Kimberly F KF; Romm, Jane J; Klaver, Caroline C W CC; Hayward, Caroline C; Gorin, Michael B MB; Klein, Michael L ML; Baird, Paul N PN; den Hollander, Anneke I AI; Fauser, Sascha S; Yates, John R W JR; Allikmets, Rando R; Wang, Jie Jin JJ; Schaumberg, Debra A DA; Klein, Barbara E K BE; Hagstrom, Stephanie A SA; Chowers, Itay I; Lotery, Andrew J AJ; Léveillard, Thierry T; Zhang, Kang K; Brilliant, Murray H MH; Hewitt, Alex W AW; Swaroop, Anand A; Chew, Emily Y EY; Pericak-Vance, Margaret A MA; DeAngelis, Margaret M; Stambolian, Dwight D; Haines, Jonathan L JL; Iyengar, Sudha K SK; Weber, Bernhard H F BH; Abecasis, Gonçalo R GR; Heid, Iris M IM