• Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes 

      Goodrich, Julia K.; Singer-Berk, Moriel; Son, Rachel; Sveden, Abigail; Wood, Jordan; England, Eleina; Cole, Joanne B.; Weisburd, Ben; Watts, Nick; Caulkins, Lizz; Dornbos, Peter; Koesterer, Ryan; Zappala, Zachary; Zhang, Haichen; Maloney, Kristin A.; Dahl, Andy; Aguilar-Salinas, Carlos A.; Atzmon, Gil; Barajas-Olmos, Francisco; Barzilai, Nir; Blangero, John; Boerwinkle, Eric; Bonnycastle, Lori L.; Bottinger, Erwin; Bowden, Donald W.; Centeno-Cruz, Federico; Chambers, John C.; Chami, Nathalie; Chan, Edmund; Chan, Juliana; Cheng, Ching-Yu; Cho, Yoon Shin; Contreras-Cubas, Cecilia; Córdova, Emilio; Correa, Adolfo; DeFronzo, Ralph A.; Duggirala, Ravindranath; Dupuis, Josée; Garay-Sevilla, Ma Eugenia; García-Ortiz, Humberto; Gieger, Christian; Glaser, Benjamin; González-Villalpando, Clicerio; Gonzalez, Ma Elena; Grarup, Niels; Groop, L; Gross, Myron; Haiman, Christopher A.; Han, Sohee; Hanis, Craig L.; Hansen, Torben; Heard-Costa, Nancy L.; Henderson, Brian E.; Hernandez, Juan Manuel Malacara; Hwang, Mi Yeong; Islas-Andrade, Sergio; Jørgensen, Marit E.; Kang, Hyun Min; Kim, Bong-Jo; Kim, Young Jin; Koistinen, Heikki A.; Kooner, Jaspal Singh; Kuusisto, Johanna; Kwak, Soo-Heon; Laakso, Markku; Lange, Leslie; Lee, Jong-Young; Lee, Juyoung; Lehman, Donna M.; Linneberg, Allan; Liu, Jianjun; Loos, Ruth J. F.; Lyssenko, Valeriya; Ma, Ronald C. W.; Martínez-Hernández, Angélica; Meigs, James B.; Meitinger, Thomas; Mendoza-Caamal, Elvia; Mohlke, Karen L.; Morris, AD; Morrison, Alanna C.; Ng, Maggie C. Y.; Nilsson, Peter M.; O’Donnell, Christopher J.; Orozco, Lorena; Palmer, Colin N. A.; Park, Kyong Soo; Post, W; Pedersen, Oluf; Preuss, Michael; Psaty, Bruce M.; Reiner, Alexander P.; Revilla-Monsalve, Cristina; Rich, Stephen S.; Rotter, Jerome I.; Saleheen, Danish; Schurmann, Claudia; Sim, Xueling; Sladek, Rob; Small, Kerrin S.; So, Wing Yee; Spector, Timothy D.; Strauch, Konstantin; Strom, Tim M.; Tai, E. Shyong; Tam, Claudia H. T.; Teo, Yik Ying; Thameem, Farook; Tomlinson, Brian; Tracy, Russell P.; Tuomi, Tiinamaija; Tuomilehto, Jaakko; Tusié-Luna, Teresa; van Dam, Rob M.; Vasan, Ramachandran S.; Wilson, James G.; Witte, Daniel R.; Wong, Tien-Yin; Burtt, Noël P.; Zaitlen, Noah; McCarthy, Mark I.; Boehnke, Michael; Pollin, Toni I.; Flannick, Jason; Mercader, Josep M.; O’Donnell-Luria, Anne; Baxter, Samantha; Florez, Jose C.; MacArthur, Daniel G.; Udler, MS (Journal article; Peer reviewed, 2021)
      Hundreds of thousands of genetic variants have been reported to cause severe monogenic diseases, but the probability that a variant carrier develops the disease (termed penetrance) is unknown for virtually all of them. ...
    • Heterogeneous contributions of change in population distribution of body mass index to change in obesity and underweight 

      Iurilli, Maria Laura Caminia; Zhou, Bin; Bennett, James E.; Carrillo-Larco, Rodrigo M.; Sophiea, Marisa K.; Rodriguez-Martinez, Andrea; Bixby, Honor; Solomon, Bethlehem D.; Taddei, Cristina; Danaei, Goodarz; Di Cesare, Mariachiara; Stevens, Gretchen A.; Riley, Leanne M.; Savin, Stefan; Cowan, Melanie J.; Bovet, Pascal; Damasceno, Albertino Antonio Moura; Chirita-Emandi, Adela; Hayes, Alison J; Ikeda, Nayu; Jackson, Rod T.; Khang, Young-Ho; Laxmaiah, Avula; Liu, Jing; Miranda, J. Jaime; Saidi, Olfa; Sebert, Sylvain; Sorić, Maroje; Starc, Gregor; Gregg, Edward W.; Abarca-Gómez, Leandra; Abdeen, Ziad A.; Abdrakhmanova, Shynar; Ghaffar, Suhaila Abdul; Rahim, Hanan Abdul; Abu-Rmeileh, Niveen M.; Garba, Jamila Abubakar; Acosta-Cazares, Benjamin; Adams, Robert J.; Aekplakorn, Wichai; Afsana, Kaosar; Afzal, Shoaib; Agdeppa, Imelda A.; Aghazadeh-Attari, Javad; Aguilar-Salinas, Carlos A.; Agyemang, Charles; Ahmad, Mohamad Hasnan; Ahmad, Noor Ani; Ahmadi, Ali; Ahmadi, Naser; Hassan, Soheir; Andersen, Lars Bo; Anderssen, Sigmund Alfred; Ariansen, Inger Kristine Holtermann; Bergh, Ingunn Holden; Bjertness, Espen; Bjertness, Marius Bergsmark; Ekelund, Ulf; Graff-Iversen, Sidsel; Grøholt, Else Karin; Haugsgjerd, Teresa Risan; Janszky, Imre; Kolle, Elin; Krokstad, Steinar; Madar, Ahmed Ali; Mathiesen, Ellisiv B.; Meisfjord, Jørgen Rajan; Meyer, Haakon Eduard; Sen, Abhijit; Skodje, Gry Irene; Sørgjerd, Elin Pettersen; Sparboe-Nilsen, Bente; Steene-Johannessen, Jostein; Tarp, Jakob; Tell, Grethe S.; Torheim, Liv Elin; Wilsgaard, Tom (Journal article; Peer reviewed, 2021)
      From 1985 to 2016, the prevalence of underweight decreased, and that of obesity and severe obesity increased, in most regions, with significant variation in the magnitude of these changes across regions. We investigated ...
    • A saturated map of common genetic variants associated with human height 

      Yengo, Loïc; Vedantam, Sailaja; Marouli, Eirini; Sidorenko, Julia; Bartell, Eric; Sakaue, Saori; Graff, Marielisa; Eliasen, Anders U.; Jiang, Yunxuan; Raghavan, Sridharan; Miao, Jenkai; Arias, Joshua D.; Graham, Sarah E.; Mukamel, Ronen E.; Spracklen, Cassandra N.; Yin, Xianyong; Chen, Shyh-Huei; Ferreira, Teresa; Highland, Heather H.; Ji, Yingjie; Karaderi, Tugce; Lin, Kuang; Lüll, Kreete; Malden, Deborah E.; Medina-Gomez, Carolina; Machado, Moara; Moore, Amy; Rüeger, Sina; Sim, Xueling; Vrieze, Scott; Ahluwalia, Tarunveer S.; Akiyama, Masato; Allison, Matthew A.; Alvarez, Marcus; Andersen, Mette K.; Ani, Alireza; Appadurai, Vivek; Arbeeva, Liubov; Bhaskar, Seema; Bielak, Lawrence F.; Bollepalli, Sailalitha; Bonnycastle, Lori L.; Bork-Jensen, Jette; Bradfield, Jonathan P.; Bradford, Yuki; Braund, Peter S.; Brody, Jennifer A.; Burgdorf, Kristoffer S.; Cade, Brian E.; Cai, Hui; Cai, Qiuyin; Campbell, Archie; Cañadas-Garre, Marisa; Catamo, Eulalia; Chai, Jin-Fang; Chai, Xiaoran; Chang, Li-Ching; Chang, Yi-Cheng; Chen, Chien-Hsiun; Chesi, Alessandra; Choi, Seung Hoan; Chung, Ren-Hua; Cocca, Massimiliano; Concas, Maria Pina; Couture, Christian; Cuellar-Partida, Gabriel; Danning, Rebecca; Daw, E. Warwick; Degenhard, Frauke; Delgado, Graciela E.; Delitala, Alessandro; Demirkan, Ayse; Deng, Xuan; Devineni, Poornima; Dietl, Alexander; Dimitriou, Maria; Dimitrov, Latchezar; Dorajoo, Rajkumar; Ekici, Arif B.; Engmann, Jorgen E.; Fairhurst-Hunter, Zammy; Farmaki, Aliki-Eleni; Faul, Jessica D.; Fernandez-Lopez, Juan-Carlos; Forer, Lukas; Francescatto, Margherita; Freitag-Wolf, Sandra; Fuchsberger, Christian; Galesloot, Tessel E.; Gao, Yan; Gao, Zishan; Geller, Frank; Giannakopoulou, Olga; Giulianini, Franco; Gjesing, Anette P.; Goel, Anuj; Gordon, Scott D.; Gorski, Mathias; Grove, Jakob; Guo, Xiuqing; Gustafsson, Stefan; Haessler, Jeffrey; Hansen, Thomas; Havulinna, Aki S.; Haworth, Simon J.; He, Jing; Heard-Costa, Nancy; Hebbar, Prashantha; Hindy, George; Ho, Yuk-Lam A.; Hofer, Edith; Holliday, Elizabeth; Horn, Katrin; Hornsby, Whitney E.; Hottenga, Jouke-Jan; Huang, Hongyan; Huang, Jie; Huerta-Chagoya, Alicia; Huffman, Jennifer E.; Hung, Yi-Jen; Huo, Shaofeng; Hwang, Mi Yeong; Iha, Hiroyuki; Ikeda, Daisuke D.; Isono, Masato; Jackson, Anne U.; Jäger, Susanne; Jansen, Iris E.; Johansson, Ingegerd; Jonas, Jost B.; Jonsson, Anna; Jørgensen, Torben; Kalafati, Ioanna-Panagiota; Kanai, Masahiro; Kanoni, Stavroula; Kårhus, Line L.; Kasturiratne, Anuradhani; Katsuya, Tomohiro; Kawaguchi, Takahisa; Kember, Rachel L.; Kentistou, Katherine A.; Kim, Han-Na; Kim, Young Jin; Kleber, Marcus E.; Knol, Maria J.; Kurbasic, Azra; Lauzon, Marie; Le, Phuong; Lea, Rodney; Lee, Jong-Young; Leonard, Hampton L.; Li, Shengchao A.; Li, Xiaohui; Li, Xiaoyin; Liang, Jingjing; Lin, Honghuang; Lin, Shih-Yi; Liu, Jun; Liu, Xueping; Lo, Ken Sin; Long, Jirong; Lores-Motta, Laura; Luan, Jian’an; Lyssenko, Valeriya; Lyytikäinen, Leo-Pekka; Mahajan, Anubha; Mamakou, Vasiliki; Mangino, Massimo; Manichaikul, Ani; Marten, Jonathan; Mattheisen, Manuel; Mavarani, Laven; McDaid, Aaron F.; Meidtner, Karina; Melendez, Tori L.; Mercader, Josep M.; Milaneschi, Yuri; Miller, Jason E.; Millwood, Iona Y.; Mishra, Pashupati P.; Mitchell, Ruth E.; Møllehave, Line T.; Morgan, Anna; Mucha, Soeren; Munz, Matthias; Nakatochi, Masahiro; Nelson, Christopher P.; Nethander, Maria; Nho, Chu Won; Nielsen, Aneta A.; Nolte, Ilja M.; Nongmaithem, Suraj S.; Noordam, Raymond; Ntalla, Ioanna; Nutile, Teresa; Pandit, Anita; Christofidou, Paraskevi; Pärna, Katri; Pauper, Marc; Petersen, Eva R. B.; Petersen, Liselotte V.; Pitkänen, Niina; Polašek, Ozren; Poveda, Alaitz; Preuss, Michael H.; Pyarajan, Saiju; Raffield, Laura M.; Rakugi, Hiromi; Ramirez, Julia; Rasheed, Asif; Raven, Dennis; Rayner, Nigel W.; Riveros, Carlos; Rohde, Rebecca; Ruggiero, Daniela; Ruotsalainen, Sanni E.; Ryan, Kathleen A.; Sabater-Lleal, Maria; Saxena, Richa; Scholz, Markus; Sendamarai, Anoop; Shen, Botong; Shi, Jingchunzi; Shin, Jae Hun; Sidore, Carlo; Sitlani, Colleen M.; Slieker, Roderick C.; Smit, Roelof A. J.; Smith, Albert V.; Smith, Jennifer A.; Smyth, Laura J.; Southam, Lorraine; Steinthorsdottir, Valgerdur; Sun, Liang; Takeuchi, Fumihiko; Tallapragada, Divya Sri Priyanka; Taylor, Kent D.; Tayo, Bamidele O.; Tcheandjieu, Catherine; Terzikhan, Natalie; Tesolin, Paola; Teumer, Alexander; Theusch, Elizabeth; Thompson, Deborah J.; Thorleifsson, Gudmar; Timmers, Paul R. H. J.; Trompet, Stella; Turman, Constance; Vaccargiu, Simona; van der Laan, Sander W.; van der Most, Peter J.; van Klinken, Jan B.; van Setten, Jessica; Verma, Shefali S.; Verweij, Niek; Veturi, Yogasudha; Wang, Carol A.; Wang, Chaolong; Wang, Lihua; Wang, Zhe; Warren, Helen R.; Bin Wei, Wen; Wickremasinghe, Ananda R.; Wielscher, Matthias; Wiggins, Kerri L.; Winsvold, Bendik K S; Wong, Andrew; Wu, Yang; Wuttke, Matthias; Xia, Rui; Xie, Tian; Yamamoto, Ken; Yang, Jingyun; Yao, Jie; Young, Hannah; Yousri, Noha A.; Yu, Lei; Zeng, Lingyao; Zhang, Weihua; Zhang, Xinyuan; Zhao, Jing-Hua; Zhao, Wei; Zhou, Wei; Zimmermann, Martina E.; Zoledziewska, Magdalena; Adair, Linda S.; Adams, Hieab H. H.; Aguilar-Salinas, Carlos A.; Al-Mulla, Fahd; Arnett, Donna K.; Asselbergs, Folkert W.; Åsvold, Bjørn Olav; Attia, John; Banas, Bernhard; Bandinelli, Stefania; Bennett, David A.; Bergler, Tobias; Bharadwaj, Dwaipayan; Biino, Ginevra; Bisgaard, Hans; Boerwinkle, Eric; Böger, Carsten A.; Bønnelykke, Klaus; Boomsma, Dorret I.; Børglum, Anders D.; Borja, Judith B.; Bouchard, Claude; Bowden, Donald W.; Brandslund, Ivan; Brumpton, Ben Michael; Buring, Julie E.; Caulfield, Mark J.; Chambers, John C.; Chandak, Giriraj R.; Chanock, Stephen J.; Chaturvedi, Nish; Chen, Yii-Der Ida; Chen, Zhengming; Cheng, Ching-Yu; Christophersen, Ingrid E.; Ciullo, Marina; Cole, John W.; Collins, Francis S.; Cooper, Richard S.; Cruz, Miguel; Cucca, Francesco; Cupples, L. Adrienne; Cutler, Michael J.; Damrauer, Scott M.; Dantoft, Thomas M.; de Borst, Gert J.; de Groot, Lisette C. P. G. M.; De Jager, Philip L.; de Kleijn, Dominique P. V.; Janaka de Silva, de; Dedoussis, George V.; den Hollander, Anneke I.; Du, Shufa; Easton, Douglas F.; Elders, Petra J. M.; Eliassen, A. Heather; Ellinor, Patrick T.; Elmståhl, Sölve; Erdmann, Jeanette; Evans, Michele K.; Fatkin, Diane; Feenstra, Bjarke; Feitosa, Mary F.; Ferrucci, Luigi; Ford, Ian; Fornage, Myriam; Franke, Andre; Franks, Paul W.; Freedman, Barry I.; Gasparini, Paolo; Gieger, Christian; Girotto, Giorgia; Goddard, Michael E.; Golightly, Yvonne M.; Gonzalez-Villalpando, Clicerio; Gordon-Larsen, Penny; Grallert, Harald; Grant, Struan F. A.; Grarup, Niels; Griffiths, Lyn; Gudnason, Vilmundur; Haiman, Christopher; Hakonarson, Hakon; Hansen, Torben; Hartman, Catharina A.; Hattersley, Andrew T.; Hayward, Caroline; Heckbert, Susan R.; Heng, Chew-Kiat; Hengstenberg, Christian; Hewitt, Alex W.; Hishigaki, Haretsugu; Hoyng, Carel B.; Huang, Paul L.; Huang, Wei; Hunt, Steven C.; Hveem, Kristian; Hyppönen, Elina; Iacono, William G.; Ichihara, Sahoko; Ikram, M. Arfan; Isasi, Carmen R.; Jackson, Rebecca D.; Jarvelin, Marjo-Riitta; Jin, Zi-Bing; Jöckel, Karl-Heinz; Joshi, Peter K.; Jousilahti, Pekka; Jukema, J. Wouter; Kähönen, Mika; Kamatani, Yoichiro; Kang, Kui Dong; Kaprio, Jaakko; Kardia, Sharon L. R.; Karpe, Fredrik; Kato, Norihiro; Kee, Frank; Kessler, Thorsten; Khera, Amit V.; Khor, Chiea Chuen; Kiemeney, Lambertus A. L. M.; Kim, Bong-Jo; Kim, Eung Kweon; Kim, Hyung-Lae; Kirchhof, Paulus; Kivimaki, Mika; Koh, Woon-Puay; Koistinen, Heikki A.; Kolovou, Genovefa D.; Kooner, Jaspal S.; Kooperberg, Charles; Köttgen, Anna; Kovacs, Peter; Kraaijeveld, Adriaan; Kraft, Peter; Krauss, Ronald M.; Kumari, Meena; Kutalik, Zoltan; Laakso, Markku; Lange, Leslie A.; Langenberg, Claudia; Launer, Lenore J.; Le Marchand, Loic; Lee, Hyejin; Lee, Nanette R.; Lehtimäki, Terho; Li, Huaixing; Li, Liming; Lieb, Wolfgang; Lin, Xu; Lind, Lars; Linneberg, Allan; Liu, Ching-Ti; Liu, Jianjun; Loeffler, Markus; London, Barry; Lubitz, Steven A.; Lye, Stephen J.; Mackey, David A.; Mägi, Reedik; Magnusson, Patrik K. E.; Marcus, Gregory M.; Vidal, Pedro Marques; Martin, Nicholas G.; März, Winfried; Matsuda, Fumihiko; McGarrah, Robert W.; McGue, Matt; McKnight, Amy Jayne; Medland, Sarah E.; Mellström, Dan; Metspalu, Andres; Mitchell, Braxton D.; Mitchell, Paul; Mook-Kanamori, Dennis O.; Morris, Andrew D.; Mucci, Lorelei A.; Munroe, Patricia B.; Nalls, Mike A.; Nazarian, Saman; Nelson, Amanda E.; Neville, Matt J.; Newton-Cheh, Christopher; Nielsen, Christopher Sivert; Nöthen, Markus M.; Ohlsson, Claes; Oldehinkel, Albertine J.; Orozco, Lorena; Pahkala, Katja; Pajukanta, Päivi; Palmer, Colin N. A.; Parra, Esteban J.; Pattaro, Cristian; Pedersen, Oluf; Pennell, Craig E.; Penninx, Brenda W. J. H.; Perusse, Louis; Peters, Annette; Peyser, Patricia A.; Porteous, David J.; Posthuma, Danielle; Power, Chris; Pramstaller, Peter P.; Province, Michael A.; Qi, Qibin; Qu, Jia; Rader, Daniel J.; Raitakari, Olli T.; Ralhan, Sarju; Rallidis, Loukianos S.; Rao, Dabeeru C.; Redline, Susan; Reilly, Dermot F.; Reiner, Alexander P.; Rhee, Sang Youl; Ridker, Paul M.; Rienstra, Michiel; Ripatti, Samuli; Ritchie, Marylyn D.; Roden, Dan M.; Rosendaal, Frits Richard; Rotter, Jerome I.; Rudan, Igor; Rutters, Femke; Sabanayagam, Charumathi; Saleheen, Danish; Salomaa, Veikko; Samani, Nilesh J.; Sanghera, Dharambir K.; Sattar, Naveed; Schmidt, Börge; Schmidt, Helena; Schmidt, Reinhold; Schulze, Matthias B.; Schunkert, Heribert; Scott, Laura J.; Scott, Rodney J.; Sever, Peter; Shiroma, Eric J.; Shoemaker, M. Benjamin; Shu, Xiao-Ou; Simonsick, Eleanor M.; Sims, Mario; Singh, Jai Rup; Singleton, Andrew B.; Sinner, Moritz F.; Smith, J. Gustav; Snieder, Harold; Spector, Tim D.; Stampfer, Meir J.; Stark, Klaus J.; Strachan, David P.; ‘t Hart, Leen M.; Tabara, Yasuharu; Tang, Hua; Tardif, Jean-Claude; Thanaraj, Thangavel A.; Timpson, Nicholas J.; Tönjes, Anke; Tremblay, Angelo; Tuomi, Tiinamaija; Tuomilehto, Jaakko; Tusié-Luna, Maria-Teresa; Uitterlinden, Andre G.; van Dam, Rob M.; van der Harst, Pim; Van der Velde, Nathalie; van Duijn, Cornelia M.; van Schoor, Natasja M.; Vitart, Veronique; Völker, Uwe; Vollenweider, Peter; Völzke, Henry; Wacher-Rodarte, Niels H.; Walker, Mark; Wang, Ya Xing; Wareham, Nicholas J.; Watanabe, Richard M.; Watkins, Hugh; Weir, David R.; Werge, Thomas M.; Widen, Elisabeth; Wilkens, Lynne R.; Willemsen, Gonneke; Willett, Walter C.; Wilson, James F.; Wong, Tien-Yin; Woo, Jeong-Taek; Wright, Alan F.; Wu, Jer-Yuarn; Xu, Huichun; Yajnik, Chittaranjan S.; Yokota, Mitsuhiro; Yuan, Jian-Min; Zeggini, Eleftheria; Zemel, Babette S.; Zheng, Wei; Zhu, Xiaofeng; Zmuda, Joseph M.; Zonderman, Alan B.; Zwart, John Anker Henrik; Partida, Gabriel Cuellar; Sun, Yan; Croteau-Chonka, Damien; Vonk, Judith M.; Chanock, Stephen; Le Marchand, Loic; Chasman, Daniel I.; Cho, Yoon Shin; Heid, Iris M.; McCarthy, Mark I.; Ng, Maggie C. Y.; O’Donnell, Christopher J.; Rivadeneira, Fernando; Thorsteinsdottir, Unnur; Sun, Yan V.; Tai, E. Shyong; Boehnke, Michael; Deloukas, Panos; Justice, Anne E.; Lindgren, Cecilia M.; Loos, Ruth J. F.; Mohlke, Karen L.; North, Kari E.; Stefansson, Kari; Walters, Robin G.; Winkler, Thomas W.; Young, Kristin L.; Loh, Po-Ru; Yang, Jian; Esko, Tõnu; Assimes, Themistocles L.; Auton, Adam; Abecasis, Goncalo R.; Willer, Cristen J.; Locke, Adam E.; Berndt, Sonja I.; Lettre, Guillaume; Frayling, Timothy M.; Okada, Yukinori; Wood, Andrew R.; Visscher, Peter M.; Hirschhorn, Joel N. (Journal article; Peer reviewed, 2022)
      Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40–50% of phenotypic variation in human height, but identifying the specific variants and associated regions requires huge sample sizes1. ...