Blar i Bergen Open Research Archive på forfatter "Rich, Stephen S."

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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. ...

    • 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 ...