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PON-P2: prediction method for fast and reliable identification of harmful variants
PON-P2: prediction method for fast and reliable identification of harmful variants
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PON-P2: prediction method for fast and reliable identification of harmful variants

Niroula, Abhishek ; Urolagin, Siddhaling ; Vihinen, Mauno Tosatto, Silvio C E

PloS one, 2015-02, Vol.10 (2), p.e0117380-e0117380 [Periódico revisado por pares]

United States: Public Library of Science

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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 association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk
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Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

Couch, Fergus J ; Soucy, Penny ; Dicks, Ed ; Sinilnikova, Olga M ; Bacot, François ; Vincent, Daniel ; Hogervorst, Frans B L ; Peock, Susan ; Radice, Paolo ; Singer, Christian F ; Friedman, Eitan ; Hansen, Thomas V O ; Neuhausen, Susan L ; Blanco, Ignacio ; Greene, Mark H ; Karlan, Beth Y ; Montagna, Marco ; Godwin, Andrew K ; Caldes, Trinidad ; van Rensburg, Elizabeth J ; Olopade, Olufunmilayo I ; Southey, Melissa C ; Kwong, Ava ; Diez, Orland ; Rennert, Gad ; Seynaeve, Caroline ; Rookus, Matti A ; Verhoef, Senno ; Wijnen, Juul T ; Frost, Debra ; Fineberg, Elena ; Eccles, Diana M ; Douglas, Fiona ; Morrison, Patrick J ; Rogers, Mark T ; Gregory, Helen ; McCann, Emma ; Murray, Alex ; Calender, Alain ; Berthet, Pascaline ; Lasset, Christine ; Rouleau, Etienne ; Damiola, Francesca ; Sobol, Hagay ; Gauthier-Villars, Marion ; Lubinski, Jan ; Jaworska, Katarzyna ; Spurdle, Amanda B ; Bonanni, Bernardo ; Ottini, Laura ; Papi, Laura ; Volorio, Sara ; Pensotti, Valeria ; Arnold, Norbert ; Gehrig, Andrea ; Kast, Karin ; Meindl, Alfons ; Ditsch, Nina ; Plendl, Hansjoerg ; Varon-Mateeva, Raymonda ; Weber, Bernhard H F ; Arver, Brita ; Rosenquist, Richard ; Cohn, David E ; Small, Laurie ; Friedlander, Michael ; Fink-Retter, Anneliese ; Rappaport, Christine ; Gschwantler-Kaulich, Daphne ; Pfeiler, Georg ; Lindor, Noralane M ; Kaufman, Bella ; Gerdes, Anne-Marie ; Moeller, Sanne Traasdahl ; Kruse, Torben A ; Robson, Mark ; Mulligan, Anna Marie ; Andersen, Mette K ; Steele, Linda ; Foretova, Lenka ; Lazaro, Conxi ; Brunet, Joan ; Pujana, Miquel Angel ; Mai, Phuong L ; Loud, Jennifer T ; Lester, Jenny ; Sand, Sharon R ; Agata, Simona ; Weaver, Joellen ; Stavropoulou, Alexandra V ; Muranen, Taru A ; Duran, Mercedes ; Lasa, Adriana ; Miron, Alexander ; Chan, Salina B ; Lejbkowicz, Flavio ; Wang, Chen ; Pastinen, Tomi ; Easton, Douglas F ; Antoniou, Antonis C Hunter, Kent W.

PLoS genetics, 2013, Vol.9 (3), p.e1003212-e1003212 [Periódico revisado por pares]

United States: Public Library of Science

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4
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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5
Phenotype of POLE-mutated endometrial cancer
Phenotype of POLE-mutated endometrial cancer
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Phenotype of POLE-mutated endometrial cancer

Imboden, Sara ; Nastic, Denis ; Ghaderi, Mehran ; Rydberg, Filippa ; Rau, Tilman T ; Mueller, Michael D ; Epstein, Elisabeth ; Carlson, Joseph W Toland, Amanda Ewart

PloS one, 2019-03, Vol.14 (3), p.e0214318-e0214318 [Periódico revisado por pares]

United States: Public Library of Science

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6
Elevated pyrimidine dimer formation at distinct genomic bases underlies promoter mutation hotspots in UV-exposed cancers
Elevated pyrimidine dimer formation at distinct genomic bases underlies promoter mutation hotspots in UV-exposed cancers
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Elevated pyrimidine dimer formation at distinct genomic bases underlies promoter mutation hotspots in UV-exposed cancers

Elliott, Kerryn ; Boström, Martin ; Filges, Stefan ; Lindberg, Markus ; Van den Eynden, Jimmy ; Ståhlberg, Anders ; Clausen, Anders R ; Larsson, Erik Gordenin, Dmitry A.

PLoS genetics, 2018-12, Vol.14 (12), p.e1007849-e1007849 [Periódico revisado por pares]

United States: Public Library of Science

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7
Filamin A Regulates Cardiovascular Remodeling
Filamin A Regulates Cardiovascular Remodeling
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Filamin A Regulates Cardiovascular Remodeling

Bandaru, Sashidar ; Ala, Chandu ; Zhou, Alex-Xianghua ; Akyürek, Levent M.

International journal of molecular sciences, 2021-06, Vol.22 (12), p.6555 [Periódico revisado por pares]

Basel: MDPI AG

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8
Phylogenetically informative mutations in genes implicated in antibiotic resistance in Mycobacterium tuberculosis complex
Phylogenetically informative mutations in genes implicated in antibiotic resistance in Mycobacterium tuberculosis complex
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Phylogenetically informative mutations in genes implicated in antibiotic resistance in Mycobacterium tuberculosis complex

Merker, Matthias ; Kohl, Thomas A ; Barilar, Ivan ; Andres, Sönke ; Fowler, Philip W ; Chryssanthou, Erja ; Ängeby, Kristian ; Jureen, Pontus ; Moradigaravand, Danesh ; Parkhill, Julian ; Peacock, Sharon J ; Schön, Thomas ; Maurer, Florian P ; Walker, Timothy ; Köser, Claudio ; Niemann, Stefan

Genome medicine, 2020-03, Vol.12 (1), p.27-8, Article 27 [Periódico revisado por pares]

England: BioMed Central Ltd

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9
PAX5 is part of a functional transcription factor network targeted in lymphoid leukemia
PAX5 is part of a functional transcription factor network targeted in lymphoid leukemia
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PAX5 is part of a functional transcription factor network targeted in lymphoid leukemia

Okuyama, Kazuki ; Strid, Tobias ; Kuruvilla, Jacob ; Somasundaram, Rajesh ; Cristobal, Susana ; Smith, Emma ; Prasad, Mahadesh ; Fioretos, Thoas ; Lilljebjörn, Henrik ; Soneji, Shamit ; Lang, Stefan ; Ungerbäck, Jonas ; Sigvardsson, Mikael Yang, Jun J

PLoS genetics, 2019-08, Vol.15 (8), p.e1008280-e1008280 [Periódico revisado por pares]

United States: Public Library of Science

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10
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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