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1
TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal
TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal
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TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal

Killela, Patrick J. ; Reitman, Zachary J. ; Jiao, Yuchen ; Bettegowda, Chetan ; Agrawal, Nishant ; Diaz, Luis A. ; Friedman, Allan H. ; Friedman, Henry ; Gallia, Gary L. ; Giovanella, Beppino C. ; Grollman, Arthur P. ; He, Tong-Chuan ; He, Yiping ; Hruban, Ralph H. ; Jallo, George I. ; Mandahl, Nils ; Meeker, Alan K. ; Mertens, Fredrik ; Netto, George J. ; Rasheed, B. Ahmed ; Riggins, Gregory J. ; Rosenquist, Thomas A. ; Schiffman, Mark ; Shih, Ie-Ming ; Theodorescu, Dan ; Torbenson, Michael S. ; Velculescu, Victor E. ; Wang, Tian-Li ; Wentzensen, Nicolas ; Wood, Laura D. ; Zhang, Ming ; McLendon, Roger E. ; Bigner, Darell D. ; Kinzler, Kenneth W. ; Vogelstein, Bert ; Papadopoulos, Nickolas ; Yan, Hai

Proceedings of the National Academy of Sciences - PNAS, 2013-04, Vol.110 (15), p.6021-6026 [Periódico revisado por pares]

United States: National Academy of Sciences

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2
Whole-genome sequencing of glioblastoma reveals enrichment of non-coding constraint mutations in known and novel genes
Whole-genome sequencing of glioblastoma reveals enrichment of non-coding constraint mutations in known and novel genes
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Whole-genome sequencing of glioblastoma reveals enrichment of non-coding constraint mutations in known and novel genes

Sakthikumar, Sharadha ; Roy, Ananya ; Haseeb, Lulu ; Pettersson, Mats E ; Sundström, Elisabeth ; Marinescu, Voichita D ; Lindblad-Toh, Kerstin ; Forsberg-Nilsson, Karin

Genome Biology, 2020-06, Vol.21 (1), p.127-127, Article 127 [Periódico revisado por pares]

England: BioMed Central Ltd

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3
Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults
Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults
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Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults

Graff, Mariaelisa ; Scott, Robert A ; Young, Kristin L ; Winkler, Thomas W ; Chu, Audrey Y ; den Hoed, Marcel ; Ahluwalia, Tarunveer S ; Quaye, Lydia ; Eicher, John D ; Hayes, James E ; Kutalik, Zoltan ; Lim, Elise ; Luan, Jian'an ; Haller, Toomas ; Bien, Stephanie ; Teumer, Alexander ; Kleber, Marcus E ; Rivera, Natalia V ; Zhao, Jing Hua ; Stringham, Heather M ; Lyytikäinen, Leo-Pekka ; Huppertz, Charlotte ; Peyrot, Wouter J ; Wu, Ying ; Fornage, Myriam ; Hassinen, Maija ; Cadby, Gemma ; Jackson, Anne U ; Bragg-Gresham, Jennifer L ; Marten, Jonathan ; Bellis, Claire ; Pasko, Dorota ; Cheng, Yu-Ching ; Eriksson, Joel ; Aadahl, Mette ; Adair, Linda S ; Balkau, Beverley ; Bergmann, Sven ; Borja, Judith B ; Chines, Peter S ; Corre, Tanguy ; Dueker, Nicole ; Eiriksdottir, Gudny ; Esko, Tõnu ; Grammer, Tanja B ; Hernandez, Dena ; Hui, Jennie ; James, Alan L ; Jhun, Min A ; Juonala, Markus ; Launer, Lenore J ; Lindgren, Cecilia M ; Lorentzon, Mattias ; Luben, Robert ; Marre, Michel ; Milaneschi, Yuri ; Narisu, Narisu ; Nauck, Matthias ; Nolte, Ilja M ; Oldehinkel, Albertine J ; Peyser, Patricia A ; Rawal, Rajesh ; Ridker, Paul M ; Rose, Lynda M ; Sarzynski, Mark A ; Snieder, Harold ; Stančáková, Alena ; Sternfeld, Barbara ; Swift, Amy J ; van Vliet-Ostaptchouk, Jana V ; Vohl, Marie-Claude ; Waeber, Gérard ; Walker, Mark ; Wild, Sarah ; Wright, Alan F ; Lemarchand, Loic ; Hofman, Albert ; Rivadeneira, Fernando ; Pérusse, Louis ; Wilson, James F ; Hayward, Caroline ; Hartman, Catharina A ; Tönjes, Anke ; Kardia, Sharon L R ; Salomaa, Veikko ; Penninx, Brenda W J H ; Laakso, Markku ; März, Winfried ; Kooner, Jaspal S ; Hallmans, Göran ; Hansen, Torben ; Metspalu, Andres ; Weir, David R ; Boerwinkle, Eric ; Chasman, Daniel I ; O'Connell, Jeffrey R ; Mohlke, Karen L ; Liu, Ching-Ti ; Hirschhorn, Joel N ; Loos, Ruth J F Edwards, Todd L.

PLoS genetics, 2017-04, Vol.13 (4), p.e1006528 [Periódico revisado por pares]

United States: Public Library of Science

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4
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity
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Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

Hendricks, Audrey E ; Bochukova, Elena G ; Marenne, Gaëlle ; Keogh, Julia M ; Atanassova, Neli ; Bounds, Rebecca ; Wheeler, Eleanor ; Mistry, Vanisha ; Henning, Elana ; Körner, Antje ; Muddyman, Dawn ; McCarthy, Shane ; Hinney, Anke ; Hebebrand, Johannes ; Scott, Robert A ; Langenberg, Claudia ; Wareham, Nick J ; Surendran, Praveen ; Howson, Joanna M ; Butterworth, Adam S ; Danesh, John ; Nordestgaard, Børge G ; Nielsen, Sune F ; Afzal, Shoaib ; Papadia, Sofia ; Ashford, Sofie ; Garg, Sumedha ; Millhauser, Glenn L ; Palomino, Rafael I ; Kwasniewska, Alexandra ; Tachmazidou, Ioanna ; O'Rahilly, Stephen ; Zeggini, Eleftheria ; Barroso, Inês ; Farooqi, I Sadaf

Scientific reports, 2017-06, Vol.7 (1), p.4394-14, Article 4394 [Periódico revisado por pares]

England: Nature Publishing Group

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5
Eleven candidate susceptibility genes for common familial colorectal cancer
Eleven candidate susceptibility genes for common familial colorectal cancer
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Eleven candidate susceptibility genes for common familial colorectal cancer

Gylfe, Alexandra E ; Katainen, Riku ; Kondelin, Johanna ; Tanskanen, Tomas ; Cajuso, Tatiana ; Hänninen, Ulrika ; Taipale, Jussi ; Taipale, Minna ; Renkonen-Sinisalo, Laura ; Järvinen, Heikki ; Mecklin, Jukka-Pekka ; Kilpivaara, Outi ; Pitkänen, Esa ; Vahteristo, Pia ; Tuupanen, Sari ; Karhu, Auli ; Aaltonen, Lauri A Horwitz, Marshall S.

PLoS genetics, 2013-10, Vol.9 (10), p.e1003876-e1003876 [Periódico revisado por pares]

United States: Public Library of Science

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6
Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease
Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease
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Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease

Jakobsdottir, Johanna ; van der Lee, Sven J ; Bis, Joshua C ; Chouraki, Vincent ; Li-Kroeger, David ; Yamamoto, Shinya ; Grove, Megan L ; Naj, Adam ; Vronskaya, Maria ; Salazar, Jose L ; DeStefano, Anita L ; Brody, Jennifer A ; Smith, Albert V ; Amin, Najaf ; Sims, Rebecca ; Ibrahim-Verbaas, Carla A ; Choi, Seung-Hoan ; Satizabal, Claudia L ; Lopez, Oscar L ; Beiser, Alexa ; Ikram, M Arfan ; Garcia, Melissa E ; Hayward, Caroline ; Varga, Tibor V ; Ripatti, Samuli ; Franks, Paul W ; Hallmans, Göran ; Rolandsson, Olov ; Jansson, Jan-Håkon ; Porteous, David J ; Salomaa, Veikko ; Eiriksdottir, Gudny ; Rice, Kenneth M ; Bellen, Hugo J ; Levy, Daniel ; Uitterlinden, Andre G ; Emilsson, Valur ; Rotter, Jerome I ; Aspelund, Thor ; O'Donnell, Christopher J ; Fitzpatrick, Annette L ; Launer, Lenore J ; Hofman, Albert ; Wang, Li-San ; Williams, Julie ; Schellenberg, Gerard D ; Boerwinkle, Eric ; Psaty, Bruce M ; Seshadri, Sudha ; Shulman, Joshua M ; Gudnason, Vilmundur ; van Duijn, Cornelia M Haines, Jonathan L.

PLoS genetics, 2016-10, Vol.12 (10), p.e1006327 [Periódico revisado por pares]

United States: Public Library of Science

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7
MYO5B mutations in pheochromocytoma/paraganglioma promote cancer progression
MYO5B mutations in pheochromocytoma/paraganglioma promote cancer progression
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MYO5B mutations in pheochromocytoma/paraganglioma promote cancer progression

Tomic, Tajana Tesan ; Olausson, Josefin ; Rehammar, Anna ; Deland, Lily ; Muth, Andreas ; Ejeskar, Katarina ; Nilsson, Staffan ; Kristiansson, Erik ; Wassen, Ola Nilsson ; Abel, Frida Wilkerson, Matthew D.

PLoS genetics, 2020-06, Vol.16 (6), p.e1008803 [Periódico revisado por pares]

San Francisco: Public Library of Science

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8
Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies
Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies
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Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies

Orme, Tatiana ; Hernandez, Dena ; Ross, Owen A ; Kun-Rodrigues, Celia ; Darwent, Lee ; Shepherd, Claire E ; Parkkinen, Laura ; Ansorge, Olaf ; Clark, Lorraine ; Honig, Lawrence S ; Marder, Karen ; Lemstra, Afina ; Rogaeva, Ekaterina ; St George-Hyslop, Peter ; Londos, Elisabet ; Zetterberg, Henrik ; Morgan, Kevin ; Troakes, Claire ; Al-Sarraj, Safa ; Lashley, Tammaryn ; Holton, Janice ; Compta, Yaroslau ; Van Deerlin, Vivianna ; Trojanowski, John Q ; Serrano, Geidy E ; Beach, Thomas G ; Lesage, Suzanne ; Galasko, Douglas ; Masliah, Eliezer ; Santana, Isabel ; Pastor, Pau ; Tienari, Pentti J ; Myllykangas, Liisa ; Oinas, Minna ; Revesz, Tamas ; Lees, Andrew ; Boeve, Brad F ; Petersen, Ronald C ; Ferman, Tanis J ; Escott-Price, Valentina ; Graff-Radford, Neill ; Cairns, Nigel J ; Morris, John C ; Pickering-Brown, Stuart ; Mann, David ; Halliday, Glenda ; Stone, David J ; Dickson, Dennis W ; Hardy, John ; Singleton, Andrew ; Guerreiro, Rita ; Bras, Jose

Acta neuropathologica communications, 2020-01, Vol.8 (1), p.5-5, Article 5 [Periódico revisado por pares]

England: BioMed Central Ltd

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9
Spatio-Temporal Mutational Profile Appearances of Swedish SARS-CoV-2 during the Early Pandemic
Spatio-Temporal Mutational Profile Appearances of Swedish SARS-CoV-2 during the Early Pandemic
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Spatio-Temporal Mutational Profile Appearances of Swedish SARS-CoV-2 during the Early Pandemic

Ling, Jiaxin ; Hickman, Rachel A ; Li, Jinlin ; Lu, Xi ; Lindahl, Johanna F ; Lundkvist, Åke ; Järhult, Josef D

Viruses, 2020-09, Vol.12 (9), p.1026 [Periódico revisado por pares]

Switzerland: MDPI

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10
Genetic anticipation in Swedish Lynch syndrome families
Genetic anticipation in Swedish Lynch syndrome families
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Genetic anticipation in Swedish Lynch syndrome families

von Salomé, Jenny ; Boonstra, Philip S ; Karimi, Masoud ; Silander, Gustav ; Stenmark-Askmalm, Marie ; Gebre-Medhin, Samuel ; Aravidis, Christos ; Nilbert, Mef ; Lindblom, Annika ; Lagerstedt-Robinson, Kristina Stella, Alessandro

PLoS genetics, 2017-10, Vol.13 (10), p.e1007012 [Periódico revisado por pares]

United States: Public Library of Science

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