Common and rare variants in patients with early onset drusen maculopathy.
Clinical Genetics
de Breuk, Anita A; Lechanteur, Yara T E YTE; Astuti, Galuh G; Galbany, Jordi Corominas JC; Klaver, Caroline C W CCW; Hoyng, Carel B CB; den Hollander, Anneke I AI
Publication Date: 2022-11
Variant appearance in text: ZFAT: 1409C>G; Ser470Cys
Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.
Frontiers In Genetics
Aguiar, Talita T; Teixeira, Anne A; Scliar, Marília O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, Eugênia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A
Publication Date: 2022
Variant appearance in text: ZFAT: 1409C>G; rs112892337
Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry.
American Journal Of Human Genetics
Graff, Mariaelisa M; Justice, Anne E AE; Young, Kristin L KL; Marouli, Eirini E; Zhang, Xinruo X; Fine, Rebecca S RS; Lim, Elise E; Buchanan, Victoria V; Rand, Kristin K; Feitosa, Mary F MF; Wojczynski, Mary K MK; Yanek, Lisa R LR; Shao, Yaming Y; Rohde, Rebecca R; Adeyemo, Adebowale A AA; Aldrich, Melinda C MC; Allison, Matthew A MA; Ambrosone, Christine B CB; Ambs, Stefan S; Amos, Christopher C; Arnett, Donna K DK; Atwood, Larry L; Bandera, Elisa V EV; Bartz, Traci T; Becker, Diane M DM; Berndt, Sonja I SI; Bernstein, Leslie L; Bielak, Lawrence F LF; Blot, William J WJ; Bottinger, Erwin P EP; Bowden, Donald W DW; Bradfield, Jonathan P JP; Brody, Jennifer A JA; Broeckel, Ulrich U; Burke, Gregory G; Cade, Brian E BE; Cai, Qiuyin Q; Caporaso, Neil N; Carlson, Chris C; Carpten, John J; Casey, Graham G; Chanock, Stephen J SJ; Chen, Guanjie G; Chen, Minhui M; Chen, Yii-Der I YI; Chen, Wei-Min WM; Chesi, Alessandra A; Chiang, Charleston W K CWK; Chu, Lisa L; Coetzee, Gerry A GA; Conti, David V DV; Cooper, Richard S RS; Cushman, Mary M; Demerath, Ellen E; Deming, Sandra L SL; Dimitrov, Latchezar L; Ding, Jingzhong J; Diver, W Ryan WR; Duan, Qing Q; Evans, Michele K MK; Falusi, Adeyinka G AG; Faul, Jessica D JD; Fornage, Myriam M; Fox, Caroline C; Freedman, Barry I BI; Garcia, Melissa M; Gillanders, Elizabeth M EM; Goodman, Phyllis P; Gottesman, Omri O; Grant, Struan F A SFA; Guo, Xiuqing X; Hakonarson, Hakon H; Haritunians, Talin T; Harris, Tamara B TB; Harris, Curtis C CC; Henderson, Brian E BE; Hennis, Anselm A; Hernandez, Dena G DG; Hirschhorn, Joel N JN; McNeill, Lorna Haughton LH; Howard, Timothy D TD; Howard, Barbara B; Hsing, Ann W AW; Hsu, Yu-Han H YH; Hu, Jennifer J JJ; Huff, Chad D CD; Huo, Dezheng D; Ingles, Sue A SA; Irvin, Marguerite R MR; John, Esther M EM; Johnson, Karen C KC; Jordan, Joanne M JM; Kabagambe, Edmond K EK; Kang, Sun J SJ; Kardia, Sharon L SL; Keating, Brendan J BJ; Kittles, Rick A RA; Klein, Eric A EA; Kolb, Suzanne S; Kolonel, Laurence N LN; Kooperberg, Charles C; Kuller, Lewis L; Kutlar, Abdullah A; Lange, Leslie L; Langefeld, Carl D CD; Le Marchand, Loic L; Leonard, Hampton H; Lettre, Guillaume G; Levin, Albert M AM; Li, Yun Y; Li, Jin J; Liu, Yongmei Y; Liu, Youfang Y; Liu, Simin S; Lohman, Kurt K; Lotay, Vaneet V; Lu, Yingchang Y; Maixner, William W; Manson, JoAnn E JE; McKnight, Barbara B; Meng, Yan Y; Monda, Keri L KL; Monroe, Kris K; Moore, Jason H JH; Mosley, Thomas H TH; Mudgal, Poorva P; Murphy, Adam B AB; Nadukuru, Rajiv R; Nalls, Mike A MA; Nathanson, Katherine L KL; Nayak, Uma U; N'Diaye, Amidou A; Nemesure, Barbara B; Neslund-Dudas, Christine C; Neuhouser, Marian L ML; Nyante, Sarah S; Ochs-Balcom, Heather H; Ogundiran, Temidayo O TO; Ogunniyi, Adesola A; Ojengbede, Oladosu O; Okut, Hayrettin H; Olopade, Olufunmilayo I OI; Olshan, Andrew A; Padhukasahasram, Badri B; Palmer, Julie J; Palmer, Cameron D CD; Palmer, Nicholette D ND; Papanicolaou, George G; Patel, Sanjay R SR; Pettaway, Curtis A CA; Peyser, Patricia A PA; Press, Michael F MF; Rao, D C DC; Rasmussen-Torvik, Laura J LJ; Redline, Susan S; Reiner, Alex P AP; Rhie, Suhn K SK; Rodriguez-Gil, Jorge L JL; Rotimi, Charles N CN; Rotter, Jerome I JI; Ruiz-Narvaez, Edward A EA; Rybicki, Benjamin A BA; Salako, Babatunde B; Sale, Michele M MM; Sanderson, Maureen M; Schadt, Eric E; Schreiner, Pamela J PJ; Schurmann, Claudia C; Schwartz, Ann G AG; Shriner, Daniel A DA; Signorello, Lisa B LB; Singleton, Andrew B AB; Siscovick, David S DS; Smith, Jennifer A JA; Smith, Shad S; Speliotes, Elizabeth E; Spitz, Margaret M; Stanford, Janet L JL; Stevens, Victoria L VL; Stram, Alex A; Strom, Sara S SS; Sucheston, Lara L; Sun, Yan V YV; Tajuddin, Salman M SM; Taylor, Herman H; Taylor, Kira K; Tayo, Bamidele O BO; Thun, Michael J MJ; Tucker, Margaret A MA; Vaidya, Dhananjay D; Van Den Berg, David J DJ; Vedantam, Sailaja S; Vitolins, Mara M; Wang, Zhaoming Z; Ware, Erin B EB; Wassertheil-Smoller, Sylvia S; Weir, David R DR; Wiencke, John K JK; Williams, Scott M SM; Williams, L Keoki LK; Wilson, James G JG; Witte, John S JS; Wrensch, Margaret M; Wu, Xifeng X; Yao, Jie J; Zakai, Neil N; Zanetti, Krista K; Zemel, Babette S BS; Zhao, Wei W; Zhao, Jing Hua JH; Zheng, Wei W; Zhi, Degui D; Zhou, Jie J; Zhu, Xiaofeng X; Ziegler, Regina G RG; Zmuda, Joe J; Zonderman, Alan B AB; Psaty, Bruce M BM; Borecki, Ingrid B IB; Cupples, L Adrienne LA; Liu, Ching-Ti CT; Haiman, Christopher A CA; Loos, Ruth R; Ng, Maggie C Y MCY; North, Kari E KE
Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.
Nature Genetics
Surendran, Praveen P; Feofanova, Elena V EV; Lahrouchi, Najim N; Ntalla, Ioanna I; Karthikeyan, Savita S; Cook, James J; Chen, Lingyan L; Mifsud, Borbala B; Yao, Chen C; Kraja, Aldi T AT; Cartwright, James H JH; Hellwege, Jacklyn N JN; Giri, Ayush A; Tragante, Vinicius V; Thorleifsson, Gudmar G; Liu, Dajiang J DJ; Prins, Bram P BP; Stewart, Isobel D ID; Cabrera, Claudia P CP; Eales, James M JM; Akbarov, Artur A; Auer, Paul L PL; Bielak, Lawrence F LF; Bis, Joshua C JC; Braithwaite, Vickie S VS; Brody, Jennifer A JA; Daw, E Warwick EW; Warren, Helen R HR; Drenos, Fotios F; Nielsen, Sune Fallgaard SF; Faul, Jessica D JD; Fauman, Eric B EB; Fava, Cristiano C; Ferreira, Teresa T; Foley, Christopher N CN; Franceschini, Nora N; Gao, He H; Giannakopoulou, Olga O; Giulianini, Franco F; Gudbjartsson, Daniel F DF; Guo, Xiuqing X; Harris, Sarah E SE; Havulinna, Aki S AS; Helgadottir, Anna A; Huffman, Jennifer E JE; Hwang, Shih-Jen SJ; Kanoni, Stavroula S; Kontto, Jukka J; Larson, Martin G MG; Li-Gao, Ruifang R; Lindström, Jaana J; Lotta, Luca A LA; Lu, Yingchang Y; Luan, Jian'an J; Mahajan, Anubha A; Malerba, Giovanni G; Masca, Nicholas G D NGD; Mei, Hao H; Menni, Cristina C; Mook-Kanamori, Dennis O DO; Mosen-Ansorena, David D; Müller-Nurasyid, Martina M; Paré, Guillaume G; Paul, Dirk S DS; Perola, Markus M; Poveda, Alaitz A; Rauramaa, Rainer R; Richard, Melissa M; Richardson, Tom G TG; Sepúlveda, Nuno N; Sim, Xueling X; Smith, Albert V AV; Smith, Jennifer A JA; Staley, James R JR; Stanáková, Alena A; Sulem, Patrick P; Thériault, Sébastien S; Thorsteinsdottir, Unnur U; Trompet, Stella S; Varga, Tibor V TV; Velez Edwards, Digna R DR; Veronesi, Giovanni G; Weiss, Stefan S; Willems, Sara M SM; Yao, Jie J; Young, Robin R; Yu, Bing B; Zhang, Weihua W; Zhao, Jing-Hua JH; Zhao, Wei W; Zhao, Wei W; Evangelou, Evangelos E; Aeschbacher, Stefanie S; Asllanaj, Eralda E; Blankenberg, Stefan S; Bonnycastle, Lori L LL; Bork-Jensen, Jette J; Brandslund, Ivan I; Braund, Peter S PS; Burgess, Stephen S; Cho, Kelly K; Christensen, Cramer C; Connell, John J; Mutsert, Renée de R; Dominiczak, Anna F AF; Dörr, Marcus M; Eiriksdottir, Gudny G; Farmaki, Aliki-Eleni AE; Gaziano, J Michael JM; Grarup, Niels N; Grove, Megan L ML; Hallmans, Göran G; Hansen, Torben T; Have, Christian T CT; Heiss, Gerardo G; Jørgensen, Marit E ME; Jousilahti, Pekka P; Kajantie, Eero E; Kamat, Mihir M; Käräjämäki, AnneMari A; Karpe, Fredrik F; Koistinen, Heikki A HA; Kovesdy, Csaba P CP; Kuulasmaa, Kari K; Laatikainen, Tiina T; Lannfelt, Lars L; Lee, I-Te IT; Lee, Wen-Jane WJ; , ; Linneberg, Allan A; Martin, Lisa W LW; Moitry, Marie M; Nadkarni, Girish G; Neville, Matt J MJ; Palmer, Colin N A CNA; Papanicolaou, George J GJ; Pedersen, Oluf O; Peters, James J; Poulter, Neil N; Rasheed, Asif A; Rasmussen, Katrine L KL; Rayner, N William NW; Mägi, Reedik R; Renström, Frida F; Rettig, Rainer R; Rossouw, Jacques J; Schreiner, Pamela J PJ; Sever, Peter S PS; Sigurdsson, Emil L EL; Skaaby, Tea T; Sun, Yan V YV; Sundstrom, Johan J; Thorgeirsson, Gudmundur G; Esko, Tõnu T; Trabetti, Elisabetta E; Tsao, Philip S PS; Tuomi, Tiinamaija T; Turner, Stephen T ST; Tzoulaki, Ioanna I; Vaartjes, Ilonca I; Vergnaud, Anne-Claire AC; Willer, Cristen J CJ; Wilson, Peter W F PWF; Witte, Daniel R DR; Yonova-Doing, Ekaterina E; Zhang, He H; Aliya, Naheed N; Almgren, Peter P; Amouyel, Philippe P; Asselbergs, Folkert W FW; Barnes, Michael R MR; Blakemore, Alexandra I AI; Boehnke, Michael M; Bots, Michiel L ML; Bottinger, Erwin P EP; Buring, Julie E JE; Chambers, John C JC; Chen, Yii-Der Ida YI; Chowdhury, Rajiv R; Conen, David D; Correa, Adolfo A; Davey Smith, George G; Boer, Rudolf A de RA; Deary, Ian J IJ; Dedoussis, George G; Deloukas, Panos P; Di Angelantonio, Emanuele E; Elliott, Paul P; , ; , ; Felix, Stephan B SB; Ferrières, Jean J; Ford, Ian I; Fornage, Myriam M; Franks, Paul W PW; Franks, Stephen S; Frossard, Philippe P; Gambaro, Giovanni G; Gaunt, Tom R TR; Groop, Leif L; Gudnason, Vilmundur V; Harris, Tamara B TB; Hayward, Caroline C; Hennig, Branwen J BJ; Herzig, Karl-Heinz KH; Ingelsson, Erik E; Tuomilehto, Jaakko J; Järvelin, Marjo-Riitta MR; Jukema, J Wouter JW; Kardia, Sharon L R SLR; Kee, Frank F; Kooner, Jaspal S JS; Kooperberg, Charles C; Launer, Lenore J LJ; Lind, Lars L; Loos, Ruth J F RJF; Majumder, Abdulla Al Shafi AAS; Laakso, Markku M; McCarthy, Mark I MI; Melander, Olle O; Mohlke, Karen L KL; Murray, Alison D AD; Nordestgaard, Børge Grønne BG; Orho-Melander, Marju M; Packard, Chris J CJ; Padmanabhan, Sandosh S; Palmas, Walter W; Polasek, Ozren O; Porteous, David J DJ; Prentice, Andrew M AM; Province, Michael A MA; Relton, Caroline L CL; Rice, Kenneth K; Ridker, Paul M PM; Rolandsson, Olov O; Rosendaal, Frits R FR; Rotter, Jerome I JI; Rudan, Igor I; Salomaa, Veikko V; Samani, Nilesh J NJ; Sattar, Naveed N; Sheu, Wayne H-H WH; Smith, Blair H BH; Soranzo, Nicole N; Spector, Timothy D TD; Starr, John M JM; Sebert, Sylvain S; Taylor, Kent D KD; Lakka, Timo A TA; Timpson, Nicholas J NJ; Tobin, Martin D MD; , ; van der Harst, Pim P; van der Meer, Peter P; Ramachandran, Vasan S VS; Verweij, Niek N; Virtamo, Jarmo J; Völker, Uwe U; Weir, David R DR; Zeggini, Eleftheria E; Charchar, Fadi J FJ; , ; Wareham, Nicholas J NJ; Langenberg, Claudia C; Tomaszewski, Maciej M; Butterworth, Adam S AS; Caulfield, Mark J MJ; Danesh, John J; Edwards, Todd L TL; Holm, Hilma H; Hung, Adriana M AM; Lindgren, Cecilia M CM; Liu, Chunyu C; Manning, Alisa K AK; Morris, Andrew P AP; Morrison, Alanna C AC; O'Donnell, Christopher J CJ; Psaty, Bruce M BM; Saleheen, Danish D; Stefansson, Kari K; Boerwinkle, Eric E; Chasman, Daniel I DI; Levy, Daniel D; Newton-Cheh, Christopher C; Munroe, Patricia B PB; Howson, Joanna M M JMM
Gene Expression and Missplicing in the Corneal Endothelium of Patients With a TCF4 Trinucleotide Repeat Expansion Without Fuchs' Endothelial Corneal Dystrophy.
Investigative Ophthalmology & Visual Science
Wieben, Eric D ED; Baratz, Keith H KH; Aleff, Ross A RA; Kalari, Krishna R KR; Tang, Xiaojia X; Maguire, Leo J LJ; Patel, Sanjay V SV; Fautsch, Michael P MP
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: ZFAT: S470C; rs112892337
Integrated analysis of germline and somatic variants in ovarian cancer.
Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S