Blar i Bergen Open Research Archive på forfatter "Blangero, John"

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    • 1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans 

      Sønderby, Ida Elken; van der Meer, Dennis; Moreau, Clara; Kaufmann, Tobias; Walters, G. Bragi; Ellegaard, Maria; Abdellaoui, Abdel; Ames, David; Amunts, Katrin; Andersson, Micael; Armstrong, Nicola J.; Bernard, Manon; Blackburn, Nicholas B.; Blangero, John; Boomsma, Dorret I.; Brodaty, Henry; Brouwer, Rachel M.; Bülow, Robin; Bøen, Rune; Cahn, Wiepke; Calhoun, Vince D.; Caspers, Svenja; Ching, Christopher R. K.; Cichon, Sven; Ciufolini, Simone; Crespo-Facorro, Benedicto; Curran, Joanne E.; Dale, Anders M.; Dalvie, Shareefa; Dazzan, Paola; de Geus, Eco J. C.; Zubicaray, Greig I. de; Zwarte, Sonja M. C. de; Desrivieres, Sylvane; Doherty, Joanne L.; Donohoe, Gary; Draganski, Bogdan; Ehrlich, Stefan; Eising, Else; Espeseth, Thomas; Fejgin, Kim; Fisher, Simon E.; Fladby, Tormod; Frei, Oleksandr; Frouin, Vincent; Fukunaga, Masaki; Gareau, Thomas; Ge, Tian; Glahn, David C.; Grabe, Hans J.; Groenewold, Nynke A.; Gustafsson, Omar; Haavik, Jan; Haberg, Asta Kristine; Hall, Jeremy; Hashimoto, Ryota; Hehir-Kwa, Jayne Y.; Hibar, Derrek P.; Hillegers, Manon H. J.; Hoffmann, Per; Holleran, Laurena; Holmes, Avram J.; Johansson, Stefan; Jönsson, Erik Gunnar; Hellard, Stephanie Francoise Claire Le; Lundervold, Arvid; Lundervold, Astri J.; Moberget, Torgeir; Nordvik, Jan Egil; Sando, Sigrid Botne; Steen, Vidar Martin; Tamnes, Christian Krog; Agartz, Ingrid; Djurovic, Srdjan; Westlye, Lars Tjelta; Andreassen, Ole; Homuth, Georg; Hottenga, Jouke-Jan; Hulshoff Pol, Hilleke E.; Ikeda, Masashi; Jahanshad, Neda; Jockwitz, Christiane; Jørgensen, Niklas R.; Kikuchi, Masataka; Knowles, Emma E. M.; Kumar, Kuldeep; Leu, Costin; Linden, David E. J.; Liu, Jingyu; Maillard, Anne M.; Martin, Nicholas G.; Martin-Brevet, Sandra; Mather, Karen A.; Mathias, Samuel R.; McMahon, Katie L.; McRae, Allan F.; Medland, Sarah E.; Meyer-Lindenberg, Andreas; Modenato, Claudia; Monereo Sánchez, Jennifer; Morris, Derek W.; Mühleisen, Thomas W.; Murray, Robin M.; Nielsen, Jacob; Nyberg, Lars; Olde Loohuis, Loes M.; Ophoff, Roel A.; Owen, Michael J.; Paus, Tomas; Pausova, Zdenka; Peralta, Juan M.; Pike, G. Bruce; Prieto, Carlos; Quinlan, Erin B.; Reinbold, Céline S.; Reis Marques, Tiago; Rucker, James J. H.; Sachdev, Perminder S.; Schofield, Peter R.; Schork, Andrew J.; Schumann, Gunter; Shin, Jean; Shumskaya, Elena; Silva, Ana I.; Sisodiya, Sanjay M.; Stein, Dan J.; Strike, Lachlan T.; Suzuki, Ikuo K.; Teumer, Alexander; Thalamuthu, Anbupalam; Tordesillas-Gutiérrez, Diana; Uhlmann, Anne; Ulfarsson, Magnus O.; van ‘t Ent, Dennis; van den Bree, Marianne B. M.; Vanderhaeghen, Pierre; Vassos, Evangelos; Wen, Wei; Wittfeld, Katharina; Wright, Margaret J.; Stefansson, Hreinn; Stefansson, Kari; Jacquemont, Sébastien; Thompson, Paul M. (Journal article; Peer reviewed, 2021)
      Low-frequency 1q21.1 distal deletion and duplication copy number variant (CNV) carriers are predisposed to multiple neurodevelopmental disorders, including schizophrenia, autism and intellectual disability. Human carriers ...

    • 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. ...