Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.
Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22
Variant appearance in text: KCNQ1: 575G>A; Arg192His
Shared and distinct ultra-rare genetic risk for diverse epilepsies: A whole-exome sequencing study of 54,423 individuals across multiple genetic ancestries.
Medrxiv : The Preprint Server For Health Sciences
, ; Chen, Siwei S; Neale, Benjamin M BM; Berkovic, Samuel F SF
Publication Date: 2023-02-24
Variant appearance in text: KCNQ1: 575G>A; Arg192His
Identification of type 2 diabetes loci in 433,540 East Asian individuals.
Nature
Spracklen, Cassandra N CN; Horikoshi, Momoko M; Kim, Young Jin YJ; Lin, Kuang K; Bragg, Fiona F; Moon, Sanghoon S; Suzuki, Ken K; Tam, Claudia H T CHT; Tabara, Yasuharu Y; Kwak, Soo-Heon SH; Takeuchi, Fumihiko F; Long, Jirong J; Lim, Victor J Y VJY; Chai, Jin-Fang JF; Chen, Chien-Hsiun CH; Nakatochi, Masahiro M; Yao, Jie J; Choi, Hyeok Sun HS; Iyengar, Apoorva K AK; Perrin, Hannah J HJ; Brotman, Sarah M SM; van de Bunt, Martijn M; Gloyn, Anna L AL; Below, Jennifer E JE; Boehnke, Michael M; Bowden, Donald W DW; Chambers, John C JC; Mahajan, Anubha A; McCarthy, Mark I MI; Ng, Maggie C Y MCY; Petty, Lauren E LE; Zhang, Weihua W; Morris, Andrew P AP; Adair, Linda S LS; Akiyama, Masato M; Bian, Zheng Z; Chan, Juliana C N JCN; Chang, Li-Ching LC; Chee, Miao-Li ML; Chen, Yii-Der Ida YI; Chen, Yuan-Tsong YT; Chen, Zhengming Z; Chuang, Lee-Ming LM; Du, Shufa S; Gordon-Larsen, Penny P; Gross, Myron M; Guo, Xiuqing X; Guo, Yu Y; Han, Sohee S; Howard, Annie-Green AG; Huang, Wei W; Hung, Yi-Jen YJ; Hwang, Mi Yeong MY; Hwu, Chii-Min CM; Ichihara, Sahoko S; Isono, Masato M; Jang, Hye-Mi HM; Jiang, Guozhi G; Jonas, Jost B JB; Kamatani, Yoichiro Y; Katsuya, Tomohiro T; Kawaguchi, Takahisa T; Khor, Chiea-Chuen CC; Kohara, Katsuhiko K; Lee, Myung-Shik MS; Lee, Nanette R NR; Li, Liming L; Liu, Jianjun J; Luk, Andrea O AO; Lv, Jun J; Okada, Yukinori Y; Pereira, Mark A MA; Sabanayagam, Charumathi C; Shi, Jinxiu J; Shin, Dong Mun DM; So, Wing Yee WY; Takahashi, Atsushi A; Tomlinson, Brian B; Tsai, Fuu-Jen FJ; van Dam, Rob M RM; Xiang, Yong-Bing YB; Yamamoto, Ken K; Yamauchi, Toshimasa T; Yoon, Kyungheon K; Yu, Canqing C; Yuan, Jian-Min JM; Zhang, Liang L; Zheng, Wei W; Igase, Michiya M; Cho, Yoon Shin YS; Rotter, Jerome I JI; Wang, Ya-Xing YX; Sheu, Wayne H H WHH; Yokota, Mitsuhiro M; Wu, Jer-Yuarn JY; Cheng, Ching-Yu CY; Wong, Tien-Yin TY; Shu, Xiao-Ou XO; Kato, Norihiro N; Park, Kyong-Soo KS; Tai, E-Shyong ES; Matsuda, Fumihiko F; Koh, Woon-Puay WP; Ma, Ronald C W RCW; Maeda, Shiro S; Millwood, Iona Y IY; Lee, Juyoung J; Kadowaki, Takashi T; Walters, Robin G RG; Kim, Bong-Jo BJ; Mohlke, Karen L KL; Sim, Xueling X
Assessing the implications of positive genomic screening results.
Personalized Medicine
Waltz, Margaret M; Meagher, Karen M KM; Henderson, Gail E GE; Goddard, Katrina Ab KA; Muessig, Kristin K; Berg, Jonathan S JS; Weck, Karen E KE; Cadigan, R Jean RJ
Upgraded molecular models of the human KCNQ1 potassium channel.
Plos One
Kuenze, Georg G; Duran, Amanda M AM; Woods, Hope H; Brewer, Kathryn R KR; McDonald, Eli Fritz EF; Vanoye, Carlos G CG; George, Alfred L AL; Sanders, Charles R CR; Meiler, Jens J
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Fuchsberger, Christian C; Flannick, Jason J; Teslovich, Tanya M TM; Mahajan, Anubha A; Agarwala, Vineeta V; Gaulton, Kyle J KJ; Ma, Clement C; Fontanillas, Pierre P; Moutsianas, Loukas L; McCarthy, Davis J DJ; Rivas, Manuel A MA; Perry, John R B JRB; Sim, Xueling X; Blackwell, Thomas W TW; Robertson, Neil R NR; Rayner, N William NW; Cingolani, Pablo P; Locke, Adam E AE; Tajes, Juan Fernandez JF; Highland, Heather M HM; Dupuis, Josee J; Chines, Peter S PS; Lindgren, Cecilia M CM; Hartl, Christopher C; Jackson, Anne U AU; Chen, Han H; Huyghe, Jeroen R JR; van de Bunt, Martijn M; Pearson, Richard D RD; Kumar, Ashish A; Müller-Nurasyid, Martina M; Grarup, Niels N; Stringham, Heather M HM; Gamazon, Eric R ER; Lee, Jaehoon J; Chen, Yuhui Y; Scott, Robert A RA; Below, Jennifer E JE; Chen, Peng P; Huang, Jinyan J; Go, Min Jin MJ; Stitzel, Michael L ML; Pasko, Dorota D; Parker, Stephen C J SCJ; Varga, Tibor V TV; Green, Todd T; Beer, Nicola L NL; Day-Williams, Aaron G AG; Ferreira, Teresa T; Fingerlin, Tasha T; Horikoshi, Momoko M; Hu, Cheng C; Huh, Iksoo I; Ikram, Mohammad Kamran MK; Kim, Bong-Jo BJ; Kim, Yongkang Y; Kim, Young Jin YJ; Kwon, Min-Seok MS; Lee, Juyoung J; Lee, Selyeong S; Lin, Keng-Han KH; Maxwell, Taylor J TJ; Nagai, Yoshihiko Y; Wang, Xu X; Welch, Ryan P RP; Yoon, Joon J; Zhang, Weihua W; Barzilai, Nir N; Voight, Benjamin F BF; Han, Bok-Ghee BG; Jenkinson, Christopher P CP; Kuulasmaa, Teemu T; Kuusisto, Johanna J; Manning, Alisa A; Ng, Maggie C Y MCY; Palmer, Nicholette D ND; Balkau, Beverley B; Stančáková, Alena A; Abboud, Hanna E HE; Boeing, Heiner H; Giedraitis, Vilmantas V; Prabhakaran, Dorairaj D; Gottesman, Omri O; Scott, James J; Carey, Jason J; Kwan, Phoenix P; Grant, George G; Smith, Joshua D JD; Neale, Benjamin M BM; Purcell, Shaun S; Butterworth, Adam S AS; Howson, Joanna M M JMM; Lee, Heung Man HM; Lu, Yingchang Y; Kwak, Soo-Heon SH; Zhao, Wei W; Danesh, John J; Lam, Vincent K L VKL; Park, Kyong Soo KS; Saleheen, Danish D; So, Wing Yee WY; Tam, Claudia H T CHT; Afzal, Uzma U; Aguilar, David D; Arya, Rector R; Aung, Tin T; Chan, Edmund E; Navarro, Carmen C; Cheng, Ching-Yu CY; Palli, Domenico D; Correa, Adolfo A; Curran, Joanne E JE; Rybin, Denis D; Farook, Vidya S VS; Fowler, Sharon P SP; Freedman, Barry I BI; Griswold, Michael M; Hale, Daniel Esten DE; Hicks, Pamela J PJ; Khor, Chiea-Chuen CC; Kumar, Satish S; Lehne, Benjamin B; Thuillier, Dorothée D; Lim, Wei Yen WY; Liu, Jianjun J; van der Schouw, Yvonne T YT; Loh, Marie M; Musani, Solomon K SK; Puppala, Sobha S; Scott, William R WR; Yengo, Loïc L; Tan, Sian-Tsung ST; Taylor, Herman A HA; Thameem, Farook F; Wilson, Gregory G; Wong, Tien Yin TY; Njølstad, Pål Rasmus PR; Levy, Jonathan C JC; Mangino, Massimo M; Bonnycastle, Lori L LL; Schwarzmayr, Thomas T; Fadista, João J; Surdulescu, Gabriela L GL; Herder, Christian C; Groves, Christopher J CJ; Wieland, Thomas T; Bork-Jensen, Jette J; Brandslund, Ivan I; Christensen, Cramer C; Koistinen, Heikki A HA; Doney, Alex S F ASF; Kinnunen, Leena L; Esko, Tõnu T; Farmer, Andrew J AJ; Hakaste, Liisa L; Hodgkiss, Dylan D; Kravic, Jasmina J; Lyssenko, Valeriya V; Hollensted, Mette M; Jørgensen, Marit E ME; Jørgensen, Torben T; Ladenvall, Claes C; Justesen, Johanne Marie JM; Käräjämäki, Annemari A; Kriebel, Jennifer J; Rathmann, Wolfgang W; Lannfelt, Lars L; Lauritzen, Torsten T; Narisu, Narisu N; Linneberg, Allan A; Melander, Olle O; Milani, Lili L; Neville, Matt M; Orho-Melander, Marju M; Qi, Lu L; Qi, Qibin Q; Roden, Michael M; Rolandsson, Olov O; Swift, Amy A; Rosengren, Anders H AH; Stirrups, Kathleen K; Wood, Andrew R AR; Mihailov, Evelin E; Blancher, Christine C; Carneiro, Mauricio O MO; Maguire, Jared J; Poplin, Ryan R; Shakir, Khalid K; Fennell, Timothy T; DePristo, Mark M; de Angelis, Martin Hrabé MH; Deloukas, Panos P; Gjesing, Anette P AP; Jun, Goo G; Nilsson, Peter P; Murphy, Jacquelyn J; Onofrio, Robert R; Thorand, Barbara B; Hansen, Torben T; Meisinger, Christa C; Hu, Frank B FB; Isomaa, Bo B; Karpe, Fredrik F; Liang, Liming L; Peters, Annette A; Huth, Cornelia C; O'Rahilly, Stephen P SP; Palmer, Colin N A CNA; Pedersen, Oluf O; Rauramaa, Rainer R; Tuomilehto, Jaakko J; Salomaa, Veikko V; Watanabe, Richard M RM; Syvänen, Ann-Christine AC; Bergman, Richard N RN; Bharadwaj, Dwaipayan D; Bottinger, Erwin P EP; Cho, Yoon Shin YS; Chandak, Giriraj R GR; Chan, Juliana C N JCN; Chia, Kee Seng KS; Daly, Mark J MJ; Ebrahim, Shah B SB; Langenberg, Claudia C; Elliott, Paul P; Jablonski, Kathleen A KA; Lehman, Donna M DM; Jia, Weiping W; Ma, Ronald C W RCW; Pollin, Toni I TI; Sandhu, Manjinder M; Tandon, Nikhil N; Froguel, Philippe P; Barroso, Inês I; Teo, Yik Ying YY; Zeggini, Eleftheria E; Loos, Ruth J F RJF; Small, Kerrin S KS; Ried, Janina S JS; DeFronzo, Ralph A RA; Grallert, Harald H; Glaser, Benjamin B; Metspalu, Andres A; Wareham, Nicholas J NJ; Walker, Mark M; Banks, Eric E; Gieger, Christian C; Ingelsson, Erik E; Im, Hae Kyung HK; Illig, Thomas T; Franks, Paul W PW; Buck, Gemma G; Trakalo, Joseph J; Buck, David D; Prokopenko, Inga I; Mägi, Reedik R; Lind, Lars L; Farjoun, Yossi Y; Owen, Katharine R KR; Gloyn, Anna L AL; Strauch, Konstantin K; Tuomi, Tiinamaija T; Kooner, Jaspal Singh JS; Lee, Jong-Young JY; Park, Taesung T; Donnelly, Peter P; Morris, Andrew D AD; Hattersley, Andrew T AT; Bowden, Donald W DW; Collins, Francis S FS; Atzmon, Gil G; Chambers, John C JC; Spector, Timothy D TD; Laakso, Markku M; Strom, Tim M TM; Bell, Graeme I GI; Blangero, John J; Duggirala, Ravindranath R; Tai, E Shyong ES; McVean, Gilean G; Hanis, Craig L CL; Wilson, James G JG; Seielstad, Mark M; Frayling, Timothy M TM; Meigs, James B JB; Cox, Nancy J NJ; Sladek, Rob R; Lander, Eric S ES; Gabriel, Stacey S; Burtt, Noël P NP; Mohlke, Karen L KL; Meitinger, Thomas T; Groop, Leif L; Abecasis, Goncalo G; Florez, Jose C JC; Scott, Laura J LJ; Morris, Andrew P AP; Kang, Hyun Min HM; Boehnke, Michael M; Altshuler, David D; McCarthy, Mark I MI
A Landscape of Pharmacogenomic Interactions in Cancer.
Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ