Blar i Bergen Open Research Archive på forfatter "Dupuis, Josée"
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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. ... -
A genome-wide association study of bronchodilator response in participants of European and African ancestry from six independent cohorts
Gereige, Jessica D.; Xu, Hanfei; Ortega, Victor E.; Cho, Michael H.; Liu, Ming; Sakornsakolpat, Phuwanat; Silverman, Edwin K.; Beaty, Terri H.; Miller, Bruce E.; Bakke, Per S.; Gulsvik, Amund; Hersh, Craig P.; Morrow, Jarrett D.; Ampleford, Elizabeth J.; Hawkins, Gregory A.; Bleecker, Eugene R.; Meyers, Deborah A.; Peters, Stephen P.; Celedón, Juan C.; Tantisira, Kelan; Li, Jiang; Dupuis, Josée; O’connor, George T. (Journal article; Peer reviewed, 2022)Introduction Bronchodilator response (BDR) is a measurement of acute bronchodilation in response to short-acting β2-agonists, with a heritability between 10 and 40%. Identifying genetic variants associated with BDR may ... -
Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk
Shrine, Nick; Izquierdo, Abril G.; Chen, Jing; Packer, Richard; Hall, Robert J.; Guyatt, Anna L.; Batini, Chiara; Thompson, Rebecca J.; Pavuluri, Chandan; Malik, Vidhi; Hobbs, Brian D.; Moll, Matthew; Kim, Wonji; Tal-Singer, Ruth; Bakke, Per S.; Fawcett, Katherine A.; John, Catherine; Coley, Kayesha; Piga, Noemi Nicole; Pozarickij, Alfred; Lin, Kuang; Millwood, Iona Y.; Chen, Zhengming; Li, Liming; Wijnant, Sara R A; Lahousse, Lies; Brusselle, Guy; Uitterlinden, Andre G.; Manichaikul, Ani; Oelsner, Elizabeth C.; Rich, Stephen S.; Barr, R Graham; Kerr, Shona M.; Vitart, Veronique; Brown, Michael R.; Wielscher, Matthias; Imboden, Medea; Jeong, Ayoung; Bartz, Traci M.; Gharib, Sina A.; Flexeder, Claudia; Karrasch, Stefan; Gieger, Christian; Peters, Annette; Stubbe, Beate; Hu, Xiaowei; Ortega, Victor E.; Meyers, Deborah A.; Bleecker, Eugene R.; Gabriel, Stacey B.; Gupta, Namrata; Smith, Albert Vernon; Luan, Jian'an; Zhao, Jing-Hua; Hansen, Ailin Falkmo; Langhammer, Arnulf; Willer, Cristen; Bhatta, Laxmi; Porteous, David; Smith, Blair H.; Campbell, Archie; Sofer, Tamar; Lee, Jiwon; Daviglus, Martha L.; Yu, Bing; Lim, Elise; Xu, Hanfei; O'Connor, George T.; Thareja, Gaurav; Albagha, Omar M E; Suhre, Karsten; Granell, Raquel; Faquih, Tariq O.; Hiemstra, Pieter S.; Slats, Annelies M.; Mullin, Benjamin H.; Hui, Jennie; James, Alan; Beilby, John; Patasova, Karina; Hysi, Pirro; Koskela, Jukka T.; Wyss, Annah B.; Jin, Jianping; Sikdar, Sinjini; Lee, Mikyeong; May-Wilson, Sebastian; Pirastu, Nicola; Kentistou, Katherine A.; Joshi, Peter K.; Timmers, Paul R H J; Williams, Alexander T.; Free, Robert C.; Wang, Xueyang; Morrison, John L.; Gilliland, Frank D.; Chen, Zhanghua; Wang, Carol A.; Foong, Rachel E.; Harris, Sarah E.; Taylor, Adele; Redmond, Paul; Cook, James P.; Mahajan, Anubha; Lind, Lars; Palviainen, Teemu; Lehtimäki, Terho; Raitakari, Olli T.; Kaprio, Jaakko; Rantanen, Taina; Pietiläinen, Kirsi H.; Cox, Simon R.; Pennell, Craig E.; Hall, Graham L.; Gauderman, W James; Brightling, Chris; Wilson, James F.; Vasankari, Tuula; Laitinen, Tarja; Salomaa, Veikko; Mook-Kanamori, Dennis O.; Timpson, Nicholas J.; Zeggini, Eleftheria; Dupuis, Josée; Hayward, Caroline; Brumpton, Ben Michael; Langenberg, Claudia; Weiss, Stefan; Homuth, Georg; Schmidt, Carsten Oliver; Probst-Hensch, Nicole; Jarvelin, Marjo-Riitta; Morrison, Alanna C.; Polasek, Ozren; Rudan, Igor; Lee, Joo-Hyeon; Sayers, Ian; Rawlins, Emma L.; Dudbridge, Frank; Silverman, Edwin K.; Strachan, David P.; Walters, Robin G.; Morris, Andrew P.; London, Stephanie J.; Cho, Michael H.; Wain, Louise V.; Hall, Ian P.; Tobin, Martin D. (Journal article; Peer reviewed, 2023)Lung-function impairment underlies chronic obstructive pulmonary disease (COPD) and predicts mortality. In the largest multi-ancestry genome-wide association meta-analysis of lung function to date, comprising 580,869 ... -
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 ...