Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
Publication Date: 2022-11-15
Variant appearance in text: ZFAT: 496C>T; Arg166Trp
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
Rare and low-frequency coding variants alter human adult height.
Nature
Marouli, Eirini E; Graff, Mariaelisa M; Medina-Gomez, Carolina C; Lo, Ken Sin KS; Wood, Andrew R AR; Kjaer, Troels R TR; Fine, Rebecca S RS; Lu, Yingchang Y; Schurmann, Claudia C; Highland, Heather M HM; Rüeger, Sina S; Thorleifsson, Gudmar G; Justice, Anne E AE; Lamparter, David D; Stirrups, Kathleen E KE; Turcot, Valérie V; Young, Kristin L KL; Winkler, Thomas W TW; Esko, Tõnu T; Karaderi, Tugce T; Locke, Adam E AE; Masca, Nicholas G D NG; Ng, Maggie C Y MC; Mudgal, Poorva P; Rivas, Manuel A MA; Vedantam, Sailaja S; Mahajan, Anubha A; Guo, Xiuqing X; Abecasis, Goncalo G; Aben, Katja K KK; Adair, Linda S LS; Alam, Dewan S DS; Albrecht, Eva E; Allin, Kristine H KH; Allison, Matthew M; Amouyel, Philippe P; Appel, Emil V EV; Arveiler, Dominique D; Asselbergs, Folkert W FW; Auer, Paul L PL; Balkau, Beverley B; Banas, Bernhard B; Bang, Lia E LE; Benn, Marianne M; Bergmann, Sven S; Bielak, Lawrence F LF; Blüher, Matthias M; Boeing, Heiner H; Boerwinkle, Eric E; Böger, Carsten A CA; Bonnycastle, Lori L LL; 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Epigenetic and genetic components of height regulation.
Nature Communications
Benonisdottir, Stefania S; Oddsson, Asmundur A; Helgason, Agnar A; Kristjansson, Ragnar P RP; Sveinbjornsson, Gardar G; Oskarsdottir, Arna A; Thorleifsson, Gudmar G; Davidsson, Olafur B OB; Arnadottir, Gudny A GA; Sulem, Gerald G; Jensson, Brynjar O BO; Holm, Hilma H; Alexandersson, Kristjan F KF; Tryggvadottir, Laufey L; Walters, G Bragi GB; Gudjonsson, Sigurjon A SA; Ward, Lucas D LD; Sigurdsson, Jon K JK; Iordache, Paul D PD; Frigge, Michael L ML; Rafnar, Thorunn T; Kong, Augustine A; Masson, Gisli G; Helgason, Hannes H; Thorsteinsdottir, Unnur U; Gudbjartsson, Daniel F DF; Sulem, Patrick P; Stefansson, Kari K
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