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The mutational constraint spectrum quantified from variation in 141,456 humans
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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2
Bright spots among the world’s coral reefs
Bright spots among the world’s coral reefs
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Bright spots among the world’s coral reefs

Cinner, Joshua E ; Huchery, Cindy ; MacNeil, M Aaron ; Graham, Nicholas A J ; McClanahan, Tim R ; Maina, Joseph ; Maire, Eva ; Kittinger, John N ; Hicks, Christina C ; Mora, Camilo ; Allison, Edward H ; D'Agata, Stephanie ; Hoey, Andrew ; Feary, David A ; Crowder, Larry ; Williams, Ivor D ; Kulbicki, Michel ; Vigliola, Laurent ; Wantiez, Laurent ; Edgar, Graham ; Stuart-Smith, Rick D ; Sandin, Stuart A ; Green, Alison L ; Hardt, Marah J ; Beger, Maria ; Friedlander, Alan ; Campbell, Stuart J ; Holmes, Katherine E ; Wilson, Shaun K ; Brokovich, Eran ; Brooks, Andrew J ; Cruz-Motta, Juan J ; Booth, David J ; Chabanet, Pascale ; Gough, Charlie ; Tupper, Mark ; Ferse, Sebastian C A ; Sumaila, U Rashid ; Mouillot, David

Nature (London), 2016-07, Vol.535 (7612), p.416-419 [Periódico revisado por pares]

England: Nature Publishing Group

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3
IGF1R is an entry receptor for respiratory syncytial virus
IGF1R is an entry receptor for respiratory syncytial virus
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IGF1R is an entry receptor for respiratory syncytial virus

Griffiths, Cameron D ; Bilawchuk, Leanne M ; McDonough, John E ; Jamieson, Kyla C ; Elawar, Farah ; Cen, Yuchen ; Duan, Wenming ; Lin, Cindy ; Song, Haeun ; Casanova, Jean-Laurent ; Ogg, Steven ; Jensen, Lionel Dylan ; Thienpont, Bernard ; Kumar, Anil ; Hobman, Tom C ; Proud, David ; Moraes, Theo J ; Marchant, David J

Nature (London), 2020-07, Vol.583 (7817), p.615-619 [Periódico revisado por pares]

England: Nature Publishing Group

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4
Enhancing mitochondrial proteostasis reduces amyloid-β proteotoxicity
Enhancing mitochondrial proteostasis reduces amyloid-β proteotoxicity
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Enhancing mitochondrial proteostasis reduces amyloid-β proteotoxicity

Sorrentino, Vincenzo ; Romani, Mario ; Mouchiroud, Laurent ; Beck, John S ; Zhang, Hongbo ; D'Amico, Davide ; Moullan, Norman ; Potenza, Francesca ; Schmid, Adrien W ; Rietsch, Solène ; Counts, Scott E ; Auwerx, Johan

Nature (London), 2017-12, Vol.552 (7684), p.187-193 [Periódico revisado por pares]

England: Nature Publishing Group

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5
A structural variation reference for medical and population genetics
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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6
Initiation of a conserved trophectoderm program in human, cow and mouse embryos
Initiation of a conserved trophectoderm program in human, cow and mouse embryos
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Initiation of a conserved trophectoderm program in human, cow and mouse embryos

Gerri, Claudia ; McCarthy, Afshan ; Alanis-Lobato, Gregorio ; Demtschenko, Andrej ; Bruneau, Alexandre ; Loubersac, Sophie ; Fogarty, Norah M E ; Hampshire, Daniel ; Elder, Kay ; Snell, Phil ; Christie, Leila ; David, Laurent ; Van de Velde, Hilde ; Fouladi-Nashta, Ali A ; Niakan, Kathy K

Nature (London), 2020-11, Vol.587 (7834), p.443-447 [Periódico revisado por pares]

England: Nature Publishing Group

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7
Evidence for enhanced mixing over rough topography in the abyssal ocean
Evidence for enhanced mixing over rough topography in the abyssal ocean
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Evidence for enhanced mixing over rough topography in the abyssal ocean

Toole, J. M ; Polzin, K. L ; Ledwell, J. R ; Montgomery, E. T ; St. Laurent, L. C ; Schmitt, R. W

Nature (London), 2000-01, Vol.403 (6766), p.179-182 [Periódico revisado por pares]

London: Nature Publishing

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8
Ensuring meiotic DNA break formation in the mouse pseudoautosomal region
Ensuring meiotic DNA break formation in the mouse pseudoautosomal region
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Ensuring meiotic DNA break formation in the mouse pseudoautosomal region

Acquaviva, Laurent ; Boekhout, Michiel ; Karasu, Mehmet E ; Brick, Kevin ; Pratto, Florencia ; Li, Tao ; van Overbeek, Megan ; Kauppi, Liisa ; Camerini-Otero, R Daniel ; Jasin, Maria ; Keeney, Scott

Nature (London), 2020-06, Vol.582 (7812), p.426-431 [Periódico revisado por pares]

England: Nature Publishing Group

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9
A joint NCBI and EMBL-EBI transcript set for clinical genomics and research
A joint NCBI and EMBL-EBI transcript set for clinical genomics and research
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A joint NCBI and EMBL-EBI transcript set for clinical genomics and research

Morales, Joannella ; Pujar, Shashikant ; Loveland, Jane E ; Astashyn, Alex ; Bennett, Ruth ; Berry, Andrew ; Cox, Eric ; Davidson, Claire ; Ermolaeva, Olga ; Farrell, Catherine M ; Fatima, Reham ; Gil, Laurent ; Goldfarb, Tamara ; Gonzalez, Jose M ; Haddad, Diana ; Hardy, Matthew ; Hunt, Toby ; Jackson, John ; Joardar, Vinita S ; Kay, Michael ; Kodali, Vamsi K ; McGarvey, Kelly M ; McMahon, Aoife ; Mudge, Jonathan M ; Murphy, Daniel N ; Murphy, Michael R ; Rajput, Bhanu ; Rangwala, Sanjida H ; Riddick, Lillian D ; Thibaud-Nissen, Françoise ; Threadgold, Glen ; Vatsan, Anjana R ; Wallin, Craig ; Webb, David ; Flicek, Paul ; Birney, Ewan ; Pruitt, Kim D ; Frankish, Adam ; Cunningham, Fiona ; Murphy, Terence D

Nature (London), 2022-04, Vol.604 (7905), p.310-315 [Periódico revisado por pares]

England: Nature Publishing Group

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10
Evaluating drug targets through human loss-of-function genetic variation
Evaluating drug targets through human loss-of-function genetic variation
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Evaluating drug targets through human loss-of-function genetic variation

Minikel, Eric Vallabh ; Karczewski, Konrad J ; Martin, Hilary C ; Cummings, Beryl B ; Whiffin, Nicola ; Rhodes, Daniel ; Alföldi, Jessica ; Trembath, Richard C ; van Heel, David A ; Daly, Mark J ; Schreiber, Stuart L ; MacArthur, Daniel G

Nature (London), 2020-05, Vol.581 (7809), p.459-464 [Periódico revisado por pares]

England: Nature Publishing Group

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