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1
Differential responses to lithium in hyperexcitable neurons from patients with bipolar disorder
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Differential responses to lithium in hyperexcitable neurons from patients with bipolar disorder

Mertens, Jerome ; Wang, Qiu-Wen ; Kim, Yongsung ; Yu, Diana X ; Pham, Son ; Yang, Bo ; Zheng, Yi ; Diffenderfer, Kenneth E ; Zhang, Jian ; Soltani, Sheila ; Eames, Tameji ; Schafer, Simon T ; Boyer, Leah ; Marchetto, Maria C ; Nurnberger, John I ; Calabrese, Joseph R ; Ødegaard, Ketil J ; McCarthy, Michael J ; Zandi, Peter P ; Alda, Martin ; Alba, Martin ; Nievergelt, Caroline M ; Mi, Shuangli ; Brennand, Kristen J ; Kelsoe, John R ; Gage, Fred H ; Yao, Jun

Nature (London), 2015-11, Vol.527 (7576), p.95-99 [Periódico revisado por pares]

England: Nature Publishing Group

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2
The mutational constraint spectrum quantified from variation in 141,456 humans
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The mutational constraint spectrum quantified from variation in 141,456 humans

Karczewski, Konrad J ; Francioli, Laurent C ; Tiao, Grace ; Cummings, Beryl B ; Alföldi, Jessica ; Wang, Qingbo ; Collins, Ryan L ; Laricchia, Kristen M ; Ganna, Andrea ; Birnbaum, Daniel P ; Gauthier, Laura D ; Brand, Harrison ; Solomonson, Matthew ; Watts, Nicholas A ; Rhodes, Daniel ; Singer-Berk, Moriel ; England, Eleina M ; Seaby, Eleanor G ; Kosmicki, Jack A ; Walters, Raymond K ; Tashman, Katherine ; Farjoun, Yossi ; Banks, Eric ; Poterba, Timothy ; Wang, Arcturus ; Seed, Cotton ; Whiffin, Nicola ; Chong, Jessica X ; Samocha, Kaitlin E ; Pierce-Hoffman, Emma ; Zappala, Zachary ; O'Donnell-Luria, Anne H ; Minikel, Eric Vallabh ; Weisburd, Ben ; Lek, Monkol ; Ware, James S ; Vittal, Christopher ; Armean, Irina M ; Bergelson, Louis ; Cibulskis, Kristian ; Connolly, Kristen M ; Covarrubias, Miguel ; Donnelly, Stacey ; Ferriera, Steven ; Gabriel, Stacey ; Gentry, Jeff ; Gupta, Namrata ; Jeandet, Thibault ; Kaplan, Diane ; Llanwarne, Christopher ; Munshi, Ruchi ; Novod, Sam ; Petrillo, Nikelle ; Roazen, David ; Ruano-Rubio, Valentin ; Saltzman, Andrea ; Schleicher, Molly ; Soto, Jose ; Tibbetts, Kathleen ; Tolonen, Charlotte ; Wade, Gordon ; Talkowski, Michael E ; Neale, Benjamin M ; Daly, Mark J ; MacArthur, Daniel G

Nature (London), 2020-05, Vol.581 (7809), p.434-443 [Periódico revisado por pares]

England: Nature Publishing Group

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3
A structural variation reference for medical and population genetics
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A structural variation reference for medical and population genetics

Collins, Ryan L ; Brand, Harrison ; Karczewski, Konrad J ; Zhao, Xuefang ; Alföldi, Jessica ; Francioli, Laurent C ; Khera, Amit V ; Lowther, Chelsea ; Gauthier, Laura D ; Wang, Harold ; Watts, Nicholas A ; Solomonson, Matthew ; O'Donnell-Luria, Anne ; Baumann, Alexander ; Munshi, Ruchi ; Walker, Mark ; Whelan, Christopher W ; Huang, Yongqing ; Brookings, Ted ; Sharpe, Ted ; Stone, Matthew R ; Valkanas, Elise ; Fu, Jack ; Tiao, Grace ; Laricchia, Kristen M ; Ruano-Rubio, Valentin ; Stevens, Christine ; Gupta, Namrata ; Cusick, Caroline ; Margolin, Lauren ; Taylor, Kent D ; Lin, Henry J ; Rich, Stephen S ; Post, Wendy S ; Chen, Yii-Der Ida ; Rotter, Jerome I ; Nusbaum, Chad ; Philippakis, Anthony ; Lander, Eric ; Gabriel, Stacey ; Neale, Benjamin M ; Kathiresan, Sekar ; Daly, Mark J ; Banks, Eric ; MacArthur, Daniel G ; Talkowski, Michael E

Nature (London), 2020-05, Vol.581 (7809), p.444-451 [Periódico revisado por pares]

England: Nature Publishing Group

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4
Analysis of protein-coding genetic variation in 60,706 humans
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Analysis of protein-coding genetic variation in 60,706 humans

Lek, Monkol ; Karczewski, Konrad J ; Minikel, Eric V ; Samocha, Kaitlin E ; Banks, Eric ; Fennell, Timothy ; O'Donnell-Luria, Anne H ; Ware, James S ; Hill, Andrew J ; Cummings, Beryl B ; Tukiainen, Taru ; Birnbaum, Daniel P ; Kosmicki, Jack A ; Duncan, Laramie E ; Estrada, Karol ; Zhao, Fengmei ; Zou, James ; Pierce-Hoffman, Emma ; Berghout, Joanne ; Cooper, David N ; Deflaux, Nicole ; DePristo, Mark ; Do, Ron ; Flannick, Jason ; Fromer, Menachem ; Gauthier, Laura ; Goldstein, Jackie ; Gupta, Namrata ; Howrigan, Daniel ; Kiezun, Adam ; Kurki, Mitja I ; Moonshine, Ami Levy ; Natarajan, Pradeep ; Orozco, Lorena ; Peloso, Gina M ; Poplin, Ryan ; Rivas, Manuel A ; Ruano-Rubio, Valentin ; Rose, Samuel A ; Ruderfer, Douglas M ; Shakir, Khalid ; Stenson, Peter D ; Stevens, Christine ; Thomas, Brett P ; Tiao, Grace ; Tusie-Luna, Maria T ; Weisburd, Ben ; Won, Hong-Hee ; Yu, Dongmei ; Altshuler, David M ; Ardissino, Diego ; Boehnke, Michael ; Danesh, John ; Donnelly, Stacey ; Elosua, Roberto ; Florez, Jose C ; Gabriel, Stacey B ; Getz, Gad ; Glatt, Stephen J ; Hultman, Christina M ; Kathiresan, Sekar ; Laakso, Markku ; McCarroll, Steven ; McCarthy, Mark I ; McGovern, Dermot ; McPherson, Ruth ; Neale, Benjamin M ; Palotie, Aarno ; Purcell, Shaun M ; Saleheen, Danish ; Scharf, Jeremiah M ; Sklar, Pamela ; Sullivan, Patrick F ; Tuomilehto, Jaakko ; Tsuang, Ming T ; Watkins, Hugh C ; Wilson, James G ; Daly, Mark J ; MacArthur, Daniel G

Nature (London), 2016-08, Vol.536 (7616), p.285-291 [Periódico revisado por pares]

England: Nature Publishing Group

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5
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche
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Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

Ferreira, Teresa ; He, Chunyan ; Esko, Tõnu ; Thorleifsson, Gudmar ; Albrecht, Eva ; Corre, Tanguy ; Franceschini, Nora ; Ganna, Andrea ; Porcu, Eleonora ; Stolk, Lisette ; Tšernikova, Natalia ; Tikkanen, Emmi ; Wagner, Erin K ; Hottenga, Jouke-Jan ; Mangino, Massimo ; Pers, Tune H ; Atsma, Femke ; Beckmann, Matthias W ; Benitez, Javier ; Blomqvist, Carl ; Bojesen, Stig E ; Bolla, Manjeet K ; Brauch, Hiltrud ; Brenner, Hermann ; Buring, Julie E ; Chanock, Stephen ; Chen, Jinhui ; Chenevix-Trench, Georgia ; Couch, Fergus J ; Czene, Kamila ; D'adamo, Adamo Pio ; Smith, George Davey ; De Vivo, Immaculata ; Demerath, Ellen W ; Dennis, Joe ; Dunning, Alison M ; Eriksson, Johan G ; Ferrucci, Luigi ; Flesch-Janys, Dieter ; Flyger, Henrik ; Garcia, Melissa E ; García-Closas, Montserrat ; Gudnason, Vilmundur ; Guénel, Pascal ; Hall, Per ; Hamann, Ute ; Haring, Robin ; Hartman, Catharina A ; Heath, Andrew C ; Hofman, Albert ; Hu, Frank B ; Karasik, David ; Kosma, Veli-Matti ; Kutalik, Zoltan ; Lai, Sandra ; Lindblom, Annika ; Mägi, Reedik ; Melbye, Mads ; Michailidou, Kyriaki ; Nevanlinna, Heli ; Neven, Patrick ; Nohr, Ellen A ; Oostra, Ben A ; Palotie, Aarno ; Peterlongo, Paolo ; Peto, Julian ; Postma, Dirkje S ; Pylkäs, Katri ; Radice, Paolo ; Ring, Susan ; Rivadeneira, Fernando ; Rose, Lynda M ; Rudolph, Anja ; Sanna, Serena ; Southey, Mellissa C ; Visser, Jenny A ; Waldenberger, Melanie ; Wallaschofski, Henri ; Wolffenbuttel, Bruce Hr ; Wright, Margaret J ; Econs, Michael J ; Khaw, Kay-Tee ; Montgomery, Grant W ; Streeten, Elizabeth A ; Thorsteinsdottir, Unnur ; Bergmann, Sven ; Crisponi, Laura ; Gasparini, Paolo ; Gieger, Christian ; Harris, Tamara B ; Ingelsson, Erik ; Järvelin, Marjo-Riitta ; Kraft, Peter ; Lawlor, Debbie ; Metspalu, Andres ; Pennell, Craig E ; Zygmunt, Marek ; Murray, Anna ; Stefansson, Kari ; Ong, Ken K

Nature (London), 2014-10, Vol.514 (7520), p.92-97 [Periódico revisado por pares]

England: Nature Publishing Group

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6
A genomic mutational constraint map using variation in 76,156 human genomes
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A genomic mutational constraint map using variation in 76,156 human genomes

Chen, Siwei ; Francioli, Laurent C ; Goodrich, Julia K ; Collins, Ryan L ; Kanai, Masahiro ; Wang, Qingbo ; Alföldi, Jessica ; Watts, Nicholas A ; Vittal, Christopher ; Gauthier, Laura D ; Poterba, Timothy ; Wilson, Michael W ; Tarasova, Yekaterina ; Phu, William ; Grant, Riley ; Yohannes, Mary T ; Koenig, Zan ; Farjoun, Yossi ; Banks, Eric ; Donnelly, Stacey ; Gabriel, Stacey ; Gupta, Namrata ; Ferriera, Steven ; Tolonen, Charlotte ; Novod, Sam ; Bergelson, Louis ; Roazen, David ; Ruano-Rubio, Valentin ; Covarrubias, Miguel ; Llanwarne, Christopher ; Petrillo, Nikelle ; Wade, Gordon ; Jeandet, Thibault ; Munshi, Ruchi ; Tibbetts, Kathleen ; O'Donnell-Luria, Anne ; Solomonson, Matthew ; Seed, Cotton ; Martin, Alicia R ; Talkowski, Michael E ; Rehm, Heidi L ; Daly, Mark J ; Tiao, Grace ; Neale, Benjamin M ; MacArthur, Daniel G ; Karczewski, Konrad J

Nature (London), 2024-01, Vol.625 (7993), p.92-100 [Periódico revisado por pares]

England: Nature Publishing Group

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7
Complement genes contribute sex-biased vulnerability in diverse disorders
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Complement genes contribute sex-biased vulnerability in diverse disorders

Kamitaki, Nolan ; Sekar, Aswin ; Handsaker, Robert E ; de Rivera, Heather ; Tooley, Katherine ; Morris, David L ; Taylor, Kimberly E ; Whelan, Christopher W ; Tombleson, Philip ; Loohuis, Loes M Olde ; Boehnke, Michael ; Kimberly, Robert P ; Kaufman, Kenneth M ; Harley, John B ; Langefeld, Carl D ; Seidman, Christine E ; Pato, Michele T ; Pato, Carlos N ; Ophoff, Roel A ; Graham, Robert R ; Criswell, Lindsey A ; Vyse, Timothy J ; McCarroll, Steven A

Nature (London), 2020-06, Vol.582 (7813), p.577-581 [Periódico revisado por pares]

England: Nature Publishing Group

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8
Host―microbe interactions have shaped the genetic architecture of inflammatory bowel disease
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Host―microbe interactions have shaped the genetic architecture of inflammatory bowel disease

JOSTINS, Luke ; RIPKE, Stephan ; ESSERS, Jonah ; MITROVIC, Mitja ; NING, Kaida ; CLEYNEN, Isabelle ; THEATRE, Emilie ; SPAIN, Sarah L ; RAYCHAUDHURI, Soumya ; GOYETTE, Philippe ; ZHI WEI ; ABRAHAM, Clara ; WEERSMA, Rinse K ; ACHKAR, Jean-Paul ; AHMAD, Tariq ; AMININEJAD, Leila ; ANANTHAKRISHNAN, Ashwin N ; ANDERSEN, Vibeke ; ANDREWS, Jane M ; BAIDOO, Leonard ; BALSCHUN, Tobias ; BAMPTON, Peter A ; BITTON, Alain ; DUERR, Richard H ; BOUCHER, Gabrielle ; BRAND, Stephan ; BÜNING, Carsten ; COHAIN, Ariella ; CICHON, Sven ; D'AMATO, Mauro ; DE JONG, Dirk ; DEVANEY, Kathy L ; DUBINSKY, Marla ; EDWARDS, Cathryn ; MCGOVERN, Dermot P ; ELLINGHAUS, David ; FERGUSON, Lynnette R ; FRANCHIMONT, Denis ; FRANSEN, Karin ; GEARRY, Richard ; GEORGES, Michel ; GIEGER, Christian ; GLAS, Jürgen ; HARITUNIANS, Talin ; HART, Ailsa ; HUI, Ken Y ; HAWKEY, Chris ; HEDL, Matija ; XINLI HU ; KARLSEN, Tom H ; KUPCINSKAS, Limas ; KUGATHASAN, Subra ; LATIANO, Anna ; LAUKENS, Debby ; LAWRANCE, Ian C ; LEES, Charlie W ; LEE, James C ; PHILIP SCHUMM, L ; SHARMA, Yashoda ; ANDERSON, Carl A

Nature (London), 2012-11, Vol.491 (7422), p.119-124 [Periódico revisado por pares]

London: Nature Publishing Group

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9
Genetic studies of body mass index yield new insights for obesity biology
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Genetic studies of body mass index yield new insights for obesity biology

Berndt, Sonja I ; Esko, Tonu ; Fall, Tove ; Gustafsson, Stefan ; Workalemahu, Tsegaselassie ; Smith, Jennifer A ; Absher, Devin ; Amin, Najaf ; Deng, Guohong ; Feitosa, Mary F ; Gong, Jian ; Pasko, Dorota ; Shungin, Dmitry ; Strawbridge, Rona J ; Zhang, Weihua ; Bellis, Claire ; Berne, Christian ; Böhringer, Stefan ; Bonnycastle, Lori L ; Boyd, Heather A ; Bruinenberg, Marcel ; Clarke, Robert ; Delgado, Graciela ; Folkersen, Lasse ; Garcia, Melissa E ; Grönberg, Henrik ; Gusto, Gaëlle ; Hassinen, Maija ; Johansson, Åsa ; Kinnunen, Leena ; Kratzer, Wolfgang ; Lichtner, Peter ; Lind, Lars ; Lorbeer, Roberto ; Mahajan, Anubha ; Menni, Cristina ; Milani, Lili ; Musk, Arthur W ; Rettig, Rainer ; Sanna, Serena ; Schumacher, Fredrick R ; Shi, Jianxin ; Swift, Amy J ; Thorand, Barbara ; Waterworth, Dawn ; Wright, Alan F ; Zhang, Qunyuan ; Choi, Murim ; Dastani, Zari ; Gådin, Jesper R ; Handsaker, Robert E ; Kubo, Michiaki ; Salem, Rany M ; Tanaka, Toshihiro ; Bakker, Stephan J L ; Bovet, Pascal ; Campbell, Harry ; Cesana, Giancarlo ; Chakravarti, Aravinda ; Chines, Peter S ; Crawford, Dana C ; den Ruijter, Hester M ; Farrall, Martin ; Ferrières, Jean ; Forrester, Terrence ; Hindorff, Lucia A ; Humphries, Steve E ; Hyppönen, Elina ; Jukema, J Wouter ; Kovacs, Peter ; Kuusisto, Johanna ; Männistö, Satu ; Morris, Andrew D ; Murray, Jeffrey C ; Oldehinkel, Albertine J ; Rioux, John D ; Samani, Nilesh J ; Sarzynski, Mark A ; Stolk, Ronald P ; Völker, Uwe ; Waeber, Gérard ; Bochud, Murielle ; Bottinger, Erwin P ; Bouchard, Claude ; Froguel, Philippe ; Groop, Leif C ; Hamsten, Anders ; Hui, Jennie ; Hunter, David J ; Kaplan, Robert C ; Schadt, Eric E ; van der Harst, Pim ; Watkins, Hugh ; Weir, David R ; Wilson, James F ; Heid, Iris M ; Stefansson, Kari ; Abecasis, Gonçalo R ; McCarthy, Mark I ; Hirschhorn, Joel N

Nature (London), 2015-02, Vol.518 (7538), p.197-206 [Periódico revisado por pares]

England: Nature Publishing Group

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10
Transcript expression-aware annotation improves rare variant interpretation
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Transcript expression-aware annotation improves rare variant interpretation

Cummings, Beryl B ; Karczewski, Konrad J ; Kosmicki, Jack A ; Seaby, Eleanor G ; Watts, Nicholas A ; Singer-Berk, Moriel ; Mudge, Jonathan M ; Karjalainen, Juha ; Satterstrom, F Kyle ; O'Donnell-Luria, Anne H ; Poterba, Timothy ; Seed, Cotton ; Solomonson, Matthew ; Alföldi, Jessica ; Daly, Mark J ; MacArthur, Daniel G

Nature (London), 2020-05, Vol.581 (7809), p.452-458 [Periódico revisado por pares]

England: Nature Publishing Group

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