• 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. ...
    • Genome-wide association study identifies 30 loci associated with bipolar disorder 

      Stahl, Eli A.; Breen, Gerome; Forstner, Andreas J.; McQuillin, Andrew; Ripke, Stephan; Trubetskoy, Vassily; Mattheisen, Manuel; Wang, Yunpeng; Coleman, Jonathan R.I.; Gaspar, Héléna A.; de Leeuw, Christiaan A.; Steinberg, Stacy; Pavlides, Jennifer M. Whitehead; Trzaskowski, Maciej; Byrne, Enda M.; Pers, Tune H.; Holmans, Peter A.; Richards, Alexander L.; Abbott, Liam; Agerbo, Esben; Akil, Huda; Albani, Diego; Alliey-Rodriguez, Ney; Als, Thomas D.; Anjorin, Adebayo; Antilla, Verneri; Awasthi, Swapnil; Badner, Judith A.; Bækvad-Hansen, Marie; Barchas, Jack D.; Bass, Nicholas; Bauer, Michael; Belliveau, Richard; Bergen, Sarah E.; Pedersen, Carsten Bøcker; Bøen, Erlend; Boks, Marco P.; Boocock, James; Budde, Monika; Bunney, William; Burmeister, Margit; Bybjerg-Grauholm, Jonas; Byerley, William; Casas, Miquel; Cerrato, Felecia; Cervantes, Pablo; Chambert, Kimberly; Charney, Alxander W.; Chen, Danfeng; Churchhouse, Claire; Clarke, Toni-Kim; Coryell, William; Craig, David W.; Cruceanu, Cristiana; Curtis, David; Czerski, Piotr M.; Dale, Anders; de Jong, Simone; Degenhardt, Franziska; Del-Favero, Jurgen; Depaulo, J. Raymond; Djurovic, Srdjan; Dobbyn, Amanda L.; Dumont, Ashley; Elvsåshagen, Torbjørn; Escott-Price, Valentina; Fan, Chun Chieh; Fischer, Sascha B.; Flickinger, Matthew; Foroud, Tatiana M.; Forty, Liz; Frank, Josef; Fraser, Christine; Freimer, Nelson B.; Frisén, Louise; Gade, Katrin; Gage, Diane; Garnham, Julie; Giambartolomei, Claudia; Pedersen, Marianne Giørtz; Goldstein, Jaqueline; Gordon, Scott D.; Gordon-Smith, Katherine; Green, Elaine K.; Green, Melissa J.; Greenwood, Tifany A.; Grove, Jakob; Guan, Weihua; Guzman-Parra, José; Hamshere, Marian L.; Hautzinger, Martin; Heilbronner, Urs; Herms, Stefan; Hipolito, Maria; Hoffmann, Per; Holland, Dominic; Huckins, Laura; Jamain, Stéphane; Johnson, Jessica S.; Juréus, Anders; Kandaswamy, Radhika; Karlsson, Robert; Kennedy, James L.; Kittel-Schneider, Sarah; Knowles, James A.; Kogevinas, Manolis; Koller, Anna C.; Kupka, Ralph; Lavebratt, Catharina; Lawrence, Jacob; Lawson, William B.; Leber, Markus; Lee, Phil H.; Levy, Shawn E.; Li, Jun Z.; Liu, Chunyu; Lucae, Susanne; Maaser, Anna; MacIntyre, Donald J.; Mahon, Pamela B.; Maier, Wolfgang; Martinsson, Lina; McCarroll, Steve; McGuffin, Peter; McInnis, Melvin G.; McKay, James D.; Medeiros, Helena; Medland, Sarah E.; Meng, Fan; Milani, Lili; Montgomery, Grant W.; Morris, Derek W.; Mühleisen, Thomas W.; Mullins, Niamh; Nguyen, Hoang; Nievergelt, Caroline M.; Adolfsson, Annelie Nordin; Nwulia, Evaristus A.; O'Donovan, Claire; Loohuis, Loes M. Olde; Ori, Anil P.S.; Oruc, Lilijana; Ösby, Urban; Perlis, Roy H.; Perry, Amy; Pfennig, Andrea; Potash, James B.; Purcell, Shaun M.; Regeer, Eline J.; Reif, Andreas; Reinbold, Céline S.; Rice, John P.; Rivas, Fabio; Rivera, Margarita; Roussos, Panos; Ruderfer, Douglas M.; Ryu, Euijung; Sánchez-Mora, Cristina; Schatzberg, Alan F.; Scheftner, William A.; Schork, Nicholas J.; Shannon Weickert, Cynthia; Shehktman, Tatyana; Shilling, Paul D.; Sigurdsson, Engilbert; Slaney, Claire; Smeland, Olav Bjerkehagen; Sobell, Janet L.; Søholm Hansen, Christine; Spijker, Anne T.; St Clair, David; Steffens, Michael; Strauss, John S.; Streit, Fabian; Strohmaier, Jana; Szelinger, Szabolcs; Thompson, Robert C.; Thorgeirsson, Thorgeir E; Treutlein, Jens; Vedder, Helmut; Wang, Weiqing; Watson, Stanley J.; Weickert, Thomas W.; Witt, Stephanie H.; Xi, Simon; Xu, Wei; Young, Allan H.; Zandi, Peter; Zhang, Peng; Zöllner, Sebastian; Adolfsson, Rolf; Agartz, Ingrid; Alda, Martin; Backlund, Lena; Baune, Bernhard T.; Bellivier, Frank; Berrettini, Wade H.; Biernacka, Joanna M.; Blackwood, Douglas H.R.; Boehnke, Michael; Børglum, Anders D.; Corvin, Aiden; Craddock, Nicholas; Daly, Mark J.; Dannlowski, Udo; Esko, Tõnu; Etain, Bruno; Frye, Mark; Fullerton, Janice M.; Gershon, Elliot S.; Gill, Michael; Goes, Fernando; Grigoroiu-Serbanescu, Maria; Hauser, Joanna; Hougaard, David M.; Hultman, Christina M.; Jones, Ian; Jones, Lisa A.; Kahn, René S.; Kirov, George; Landén, Mikael; Leboyer, Marion; Lewis, Cathryn M.; Li, Qingqin S.; Lissowska, Jolanta; Martin, Nicholas G.; Mayoral, Fermin; McElroy, Susan L.; McIntosh, Andrew M.; McMahon, Francis J.; Melle, Ingrid; Metspalu, Andres; Mitchell, Philip B.; Morken, Gunnar; Mors, Ole; Mortensen, Preben Bo; Müller-Myhsok, Bertram; Myers, Richard M.; Neale, Benjamin M.; Nimgaonkar, Vishwajit; Nordentoft, Merete; Nöthen, Markus M.; O'Donovan, Michael C; Ødegaard, Ketil Joachim; Owen, Michael J.; Paciga, Sara A.; Pato, Carlos; Pato, Michele T.; Posthuma, Danielle; Ramos-Quiroga, Josep Antoni; Ribasés, Marta; Rietschel, Marcella; Rouleau, Guy A.; Schalling, Martin; Schofield, Peter R.; Schulze, Thomas G.; Serretti, Alessandro; Smoller, Jordan W.; Stefansson, Hreinn; Stefansson, Kari; Stordal, Eystein; Sullivan, Patrick F.; Turecki, Gustavo; Vaaler, Arne; Vieta, Eduard; Vincent, John B.; Werge, Thomas; Nurnberger, John I.; Wray, Naomi R.; Di Florio, Arianna; Edenberg, Howard J.; Cichon, Sven; Ophoff, Roel A.; Scott, Laura J.; Andreassen, Ole Andreas; Kelsoe, John; Sklar, Pamela (Journal article; Peer reviewed, 2019)
      Bipolar disorder is a highly heritable psychiatric disorder. We performed a genome-wide association study (GWAS) including 20,352 cases and 31,358 controls of European descent, with follow-up analysis of 822 variants with ...
    • GWAS of suicide attempt in psychiatric disorders and association with major depression polygenic risk scores 

      Mullins, Niamh; Bigdeli, Tim B.; Børglum, Anders D.; Coleman, Jonathan R.I.; Demontis, Ditte; Mehta, Divya; Power, Robert A.; Ripke, Stephan; Stahl, Eli A.; Starnawska, Anna; Anjorin, Adebayo; Corvin, Aiden; Sanders, Alan R.; Forstner, Andreas J.; Reif, Andreas; Koller, Anna C.; Świątkowska, Beata; Baune, Bernhard T.; Müller-Myhsok, Bertram; Penninx, Brenda W.J.H.; Pato, Carlos; Zai, Clement; Rujescu, Dan; Hougaard, David M.; Quested, Digby; Levinson, Douglas F.; Binder, Elisabeth B.; Byrne, Enda M.; Agerbo, Esben; Streit, Fabian; Mayoral, Fermin; Bellivier, Frank; Degenhardt, Franziska; Breen, Gerome; Morken, Gunnar; Turecki, Gustavo; Rouleau, Guy A.; Grabe, Hans J.; Völzke, Henry; Jones, Ian; Giegling, Ina; Agartz, Ingrid; Melle, Ingrid; Lawrence, Jacob; Walters, James T.R.; Strohmaier, Jana; Shi, Jianxin; Hauser, Joanna; Biernacka, Joanna M.; Vincent, John B.; Kelsoe, John; Strauss, John S.; Lissowska, Jolanta; Pimm, Jonathan; Smoller, Jordan W.; Guzman-Parra, José; Berger, Klaus; Scott, Laura J.; Jones, Lisa A.; Azevedo, M. Helena; Trzaskowski, Maciej; Kogevinas, Manolis; Rietschel, Marcella; Boks, Marco; Ising, Marcus; Grigoroiu-Serbanescu, Maria; Hamshere, Marian L.; Leboyer, Marion; Frye, Mark; Nöthen, Markus M.; Alda, Martin; Preisig, Martin; Nordentoft, Merete; Boehnke, Michael; O'Donovan, Michael C.; Owen, Michael J.; Pato, Michele T.; Renteriá, Miguel E.; Budde, Monika; Weissman, Myrna M.; Wray, Naomi R.; Bass, Nicholas; Craddock, Nicholas; Smeland, Olav Bjerkehagen; Andreassen, Ole Andreas; Mors, Ole; Gejman, Pablo V.; Sklar, Pamela; McGrath, Patrick; Hoffmann, Per; McGuffin, Peter; Lee, Phil H.; Mortensen, Preben Bo; Kahn, René S.; Ophoff, Roel A.; Adolfsson, Rolf; Van der Auwera, Sandra; Djurovic, Srdjan; Kloiber, Stefan; Heilmann-Heimbach, Stefanie; Jamain, Stéphane; Hamilton, Steven P.; McElroy, Susan L.; Lucae, Susanne; Cichon, Sven; Schulze, Thomas G.; Hansen, Thomas; Werge, Thomas; Air, Tracy M.; Nimgaonkar, Vishwajit; Appadurai, Vivek; Cahn, Wiepke; Milaneschi, Yuri; Fanous, Ayman H.; Kendler, Kenneth S.; McQuillin, Andrew; Lewis, Cathryn M. (Journal article; Peer reviewed, 2019)
      Objective: More than 90% of people who attempt suicide have a psychiatric diagnosis; however, twin and family studies suggest that the genetic etiology of suicide attempt is partially distinct from that of the psychiatric ...
    • Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability 

      Lagou, Vasiliki; Mägi, Reedik; Hottenga, Jouke- Jan; Grallert, Harald; Perry, John R. B.; Bouatia-Naji, Nabila; Marullo, Letizia; Rybin, Denis V.; Jansen, Rick; Min, JL; Dimas, AS; Ulrich, Anna; Zudina, Liudmila; Gådin, Jesper R.; Jiang, Longda; Faggian, Alessia; Bonnefond, Amélie; Fadista, Joao; Stathopoulou, Maria G.; Isaacs, Aaron; Willems, Sara M.; Navarro, Pau; Tanaka, Toshiko; Jackson, Anne U.; Montasser, May E.; O’Connell, Jeff R.; Bielak, Lawrence F.; Webster, Rebecca J.; Saxena, Richa; Stafford, Jeanette M.; Pourcain, Beate St; Timpson, Nicholas J.; Salo, Perttu; Shin, SY; Amin, Najaf; Smith, Albert V.; Li, G; Verweij, Niek; Goel, Anuj; Ford, Ian; Johnson, Paul C. D.; Johnson, Toby; Kapur, Karen; Thorleifsson, Gudmar; Strawbridge, Rona J.; Rasmussen-Torvik, Laura J.; Esko, Tõnu; Mihailov, E; Fall, Tove; Fraser, Ross M; Mahajan, Anubha; Kanoni, Stavroula; Giedraitis, Vilmantas; Kleber, Marcus E.; Silbernagel, Günther; Meyer, Julia; Müller-Nurasyid, Martina; Ganna, Andrea; Sarin, Antti-Pekka; Yengo, Loic; Shungin, D; Luan, Jian’an; Horikoshi, Momoko; An, Ping; Sanna, Serena; Boettcher, Yvonne; Rayner, Nigel W; Nolte, Ilja M.; Zemunik, Tatijana; Iperen, Erik van; Kovacs, Peter; Hastie, Nicholas D.; Wild, Sarah H.; McLachlan, Stela; Campbell, Susan; Polasek, Ozren; Carlson, Olga; Egan, Josephine; Kiess, Wieland; Willemsen, Gonneke; Kuusisto, Johanna; Laakso, Markku; Dimitriou, M; Hicks, Andrew A.; Rauramaa, Rainer; Bandinelli, Stefania; Thorand, Barbara; Liu, Yongmei; Miljkovic, Iva; Lind, Lars; Doney, Alex; Perola, Markus; Hingorani, Aroon; Kivimaki, Mika; Kumari, Meena; Bennett, Amanda J.; Groves, Christopher J.; Herder, Christian; Koistinen, Heikki A.; Kinnunen, Leena; Faire, Ulf de; Bakker, Stephan J. L.; Uusitupa, Matti; Palmer, Colin N. A.; Jukema, J. Wouter; Sattar, Naveed; Pouta, Anneli; Snieder, Harold; Boerwinkle, Eric; Pankow, James S.; Magnusson, Patrik K.; Krus, Ulrika; Scapoli, Chiara; de Geus, Eco J. C. N.; Blüher, Matthias; Wolffenbuttel, Bruce H. R.; Province, Michael A.; Abecasis, Goncalo R.; Meigs, James B.; Hovingh, G. Kees; Lindström, Jaana; Wilson, JF; Wright, Alan F.; Dedoussis, George; Bornstein, Stefan R.; Schwarz, Peter E. H.; Tönjes, Anke; Winkelmann, Bernhard R.; Boehm, Bernhard O.; März, Winfried; Metspalu, Andres; Price, Jackie F.; Deloukas, Panos; Körner, Antje; Lakka, Timo A.; Keinanen-Kiukaanniemi, Sirkka M.; Saaristo, Timo E.; Bergman, Richard N.; Tuomilehto, Jaakko; Wareham, Nick; Langenberg, Claudia; Männistö, Satu; Franks, Paul W; Hayward, Caroline; Vitart, Veronique; Kaprio, Jaakko; Visvikis-Siest, Sophie; Balkau, Beverley; Altshuler, D; Rudan, Igor; Stumvoll, Michael; Campbell, Harry; van Duijn, Cornelia M.; Gieger, Christian; Illig, Thomas; Ferrucci, Luigi; Pedersen, Nancy L.; Pramstaller, Peter P.; Boehnke, Michael; Frayling, TM; Shuldiner, Alan R.; Peyser, Patricia A.; Kardia, Sharon L. R.; Palmer, Lyle J.; Penninx, Brenda W.; Meneton, Pierre; Harris, Tamara B.; Navis, Gerjan; Harst, Pim van der; Smith, George Davey; Forouhi, Nita G.; Loos, Ruth J. F.; Salomaa, Veikko; Soranzo, Nicole; Boomsma, Dorret I.; Groop, L; Tuomi, Tiinamaija; Hofman, Albert; Munroe, Patricia B.; Gudnason, Vilmundur; Siscovick, David S.; Watkins, Hugh; Lecoeur, Cecile; Vollenweider, Peter; Franco-Cereceda, Anders; Eriksson, Per; Jarvelin, Marjo-Riitta; Stefansson, Kari; Hamsten, Anders; Nicholson, George; Karpe, Fredrik; Dermitzakis, Emmanouil T.; Lindgren, Cecilia M.; McCarthy, Mark I.; Froguel, Philippe; Kaakinen, Marika A.; Lyssenko, Valeriya; Watanabe, Richard M.; Ingelsson, Erik; Florez, Jose C.; Dupuis, Josée; Barroso, I; Morris, Andrew P.; Prokopenko, Inga (Journal article; Peer reviewed, 2021)
      Differences between sexes contribute to variation in the levels of fasting glucose and insulin. Epidemiological studies established a higher prevalence of impaired fasting glucose in men and impaired glucose tolerance in ...