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Lack of referral for genetic counseling and testing in BRCA1/2 and Lynch syndromes: a nationwide study based on 240,134 consultations and 134,652 genetic tests
Lack of referral for genetic counseling and testing in BRCA1/2 and Lynch syndromes: a nationwide study based on 240,134 consultations and 134,652 genetic tests
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Lack of referral for genetic counseling and testing in BRCA1/2 and Lynch syndromes: a nationwide study based on 240,134 consultations and 134,652 genetic tests

Pujol, P. ; Lyonnet, D. Stoppa ; Frebourg, T. ; Blin, J. ; Picot, M. C. ; Lasset, C. ; Dugast, C. ; Berthet, P. ; de Paillerets, B. Bressac ; Sobol, H. ; Grandjouan, S. ; Soubrier, F. ; Buecher, B. ; Guimbaud, R. ; Lidereau, R. ; Jonveaux, P. ; Houdayer, C. ; Giraud, S. ; Olschwang, S. ; Nogue, E. ; Galibert, V. ; Bara, C. ; Nowak, F. ; Khayat, D. ; Nogues, C.

Breast cancer research and treatment, 2013-08, Vol.141 (1), p.135-144 [Periódico revisado por pares]

Boston: Springer US

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2
Diagnosis of patients with Lynch syndrome lacking the Amsterdam II or Bethesda criteria
Diagnosis of patients with Lynch syndrome lacking the Amsterdam II or Bethesda criteria
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Diagnosis of patients with Lynch syndrome lacking the Amsterdam II or Bethesda criteria

Trujillo-Rojas, Miguel Angel ; Ayala-Madrigal, María de la Luz ; Gutiérrez-Angulo, Melva ; González-Mercado, Anahí ; Moreno-Ortiz, José Miguel

Hereditary cancer in clinical practice, 2023-10, Vol.21 (1), p.1-21, Article 21 [Periódico revisado por pares]

London: BioMed Central Ltd

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3
A comprehensive 1000 Genomes–based genome-wide association meta-analysis of coronary artery disease
A comprehensive 1000 Genomes–based genome-wide association meta-analysis of coronary artery disease
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A comprehensive 1000 Genomes–based genome-wide association meta-analysis of coronary artery disease

Nikpay, Majid ; Goel, Anuj ; Won, Hong-Hee ; Hall, Leanne M ; Willenborg, Christina ; Kanoni, Stavroula ; Kyriakou, Theodosios ; Nelson, Christopher P ; Harris, Tamara B ; Hazen, Stanley L ; Hengstenberg, Christian ; Hofman, Albert ; Ingelsson, Erik ; Iribarren, Carlos ; Jukema, J Wouter ; Karhunen, Pekka J ; Kim, Bong-Jo ; Webb, Thomas R ; Kullo, Iftikhar J ; Loos, Ruth JF ; Melander, Olle ; Metspalu, Andres ; Palmer, Colin N ; Quertermous, Thomas ; Rader, Daniel J ; Zeng, Lingyao ; Ridker, Paul M ; Roberts, Robert ; Schwartz, Stephen M ; Stewart, Alexandre F ; Stott, David J ; Thiery, Joachim ; Dehghan, Abbas ; Zalloua, Pierre A ; O'Donnell, Christopher J ; Thompson, John R ; Erdmann, Jeanette ; Clarke, Robert ; Kathiresan, Sekar ; McPherson, Ruth ; Alver, Maris ; Deloukas, Panos ; Samani, Nilesh J ; Farrall, Martin ; Auro, Kirsi ; Bjonnes, Andrew ; Chasman, Daniel I ; Chen, Shufeng ; d, Ian ; Franceschini, Nora ; Gieger, Christian ; Grace, Christopher ; Gustafsson, Stefan ; Huang, Jie ; Kim, Yun Kyoung ; Lau, King Wai ; Lyytikäinen, Leo-Pekka ; Morrison, Alanna C ; Pervjakova, Natalia ; Rose, Lynda M ; Salfati, Elias ; Saxena, Richa ; Scholz, Markus ; Tikkanen, Emmi ; Uitterlinden, Andre ; Zhang, Weihua ; de Andrade, Mariza ; van Zuydam, Natalie R ; Dedoussis, George ; Frossard, Philippe ; Gauguier, Dominique ; Goodall, Alison H ; Gottesman, Omri ; Haber, Marc ; Huang, Jianfeng ; König, Inke R ; Lannfelt, Lars ; Lind, Lars ; Lindgren, Cecilia M ; Magnusson, Patrik K ; Mallick, Nadeem H ; Meitinger, Thomas ; Memon, Fazal-ur-Rehman ; Morris, Andrew P ; Nieminen, Markku S ; Rallidis, Loukianos S ; Rasheed, Asif ; Sinisalo, Juha ; Stirrups, Kathleen E ; Wang, Laiyuan ; Ardissino, Diego ; Boerwinkle, Eric ; Bottinger, Erwin P ; Buring, Julie E ; Chambers, John C ; Cupples, L Adrienne ; Danesh, John ; Demuth, Ilja ; Gudnason, Roberto ; Hamsten, Anders

Nature genetics, 2015-10, Vol.47 (10), p.1121-1130 [Periódico revisado por pares]

New York: Nature Publishing Group

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4
Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation
Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation
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Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation

Min, Josine L ; Hannon, Eilis ; Castillo-Fernandez, Juan ; Luijk, René ; Lawson, Daniel J ; Suderman, Matthew ; Bretherick, Andrew D ; Richardson, Tom G ; Sharp, Gemma ; Shatunov, Aleksey ; Iacoangeli, Alfredo ; Ho, Karen M ; Giralt-Steinhauer, Eva ; Mason, Dan ; McRae, Allan F ; Cardona, Alexia ; Day, Felix R ; Cugliari, Giovanni ; Viberti, Clara ; Guarrera, Simonetta ; Lerro, Michael ; Mandaviya, Pooja ; Zeng, Yanni ; Clarke, Toni-Kim ; Walker, Rosie M ; Schmoll, Vanessa ; Czamara, Darina ; Ruiz-Arenas, Carlos ; Marioni, Riccardo E ; Lin, Tian ; Germain, Marine ; Dekker, Annelot ; van Dongen, Jenny ; Hottenga, Jouke-Jan ; Willemsen, Gonneke ; Xu, Cheng-Jian ; Català-Moll, Francesc ; Kerick, Martin ; Wang, Carol ; Shin, Jean ; Bernard, Manon ; Yet, Idil ; Gorrie-Stone, Tyler ; Shaw, Chris ; Al Chalabi, Ammar ; Ring, Susan M ; Pershagen, Göran ; Melén, Erik ; Jiménez-Conde, Jordi ; Roquer, Jaume ; Wright, John ; Martin, Nicholas G ; Montgomery, Grant W ; Moffitt, Terrie E ; Poulton, Richie ; Esko, Tõnu ; Milani, Lili ; Metspalu, Andres ; Perry, John R B ; Wareham, Nicholas J ; Matullo, Giuseppe ; Sacerdote, Carlotta ; Caspi, Avshalom ; Arseneault, Louise ; Gagnon, France ; Ollikainen, Miina ; Felix, Janine F ; Tiemeier, Henning ; van IJzendoorn, Marinus H ; Haley, Chris ; McIntosh, Andrew M ; Evans, Kathryn L ; Murray, Alison ; Binder, Elisabeth B ; Lucae, Susanne ; Gonzalez, Juan Ramon ; Zhang, Hongmei ; Starr, John M ; Beekman, Marian ; Slagboom, P Eline ; Morange, Pierre-Emmanuel ; Trégouët, David-Alexandre ; Davies, Gareth E ; de Geus, Eco J C ; Boomsma, Dorret I ; Vonk, Judith M ; Brunekreef, Bert ; Pennell, Craig E ; van Meurs, Joyce ; Ikram, M Arfan ; Tillin, Therese ; Chaturvedi, Nish ; Paus, Tomas ; Kumari, Meena ; Schalkwyk, Leonard C ; Visscher, Peter M ; Bock, Christoph ; Gaunt, Tom R ; Bell, Jordana T ; Relton, Caroline L

Nature genetics, 2021-09, Vol.53 (9), p.1311-1321 [Periódico revisado por pares]

United States: Nature Publishing Group

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5
The landscape of viral associations in human cancers
The landscape of viral associations in human cancers
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The landscape of viral associations in human cancers

Zapatka, Marc ; Borozan, Ivan ; Brewer, Daniel S ; Iskar, Murat ; Grundhoff, Adam ; Alawi, Malik ; Desai, Nikita ; Sültmann, Holger ; Moch, Holger ; Cooper, Colin S ; Eils, Roland ; Ferretti, Vincent ; Lichter, Peter

Nature genetics, 2020-03, Vol.52 (3), p.320-330 [Periódico revisado por pares]

United States: Nature Publishing Group

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6
Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis
Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis
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Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis

Ramoz, Nicolas ; Rueda, Luis-Alfredo ; Orth, Gérard ; Favre, Michel ; Bouadjar, Bakar ; Montoya, Luz-Stella

Nature genetics, 2002-12, Vol.32 (4), p.579-581 [Periódico revisado por pares]

London: Nature Publishing Group

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7
Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder
Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder
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Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder

Demontis, Ditte ; Walters, Raymond K ; Martin, Joanna ; Mattheisen, Manuel ; Als, Thomas D ; Agerbo, Esben ; Baldursson, Gísli ; Belliveau, Rich ; Bybjerg-Grauholm, Jonas ; Bækvad-Hansen, Marie ; Cerrato, Felecia ; Chambert, Kimberly ; Churchhouse, Claire ; Dumont, Ashley ; Eriksson, Nicholas ; Gandal, Michael ; Goldstein, Jacqueline I ; Grasby, Katrina L ; Grove, Jakob ; Gudmundsson, Olafur O ; Hansen, Christine S ; Hauberg, Mads Engel ; Hollegaard, Mads V ; Howrigan, Daniel P ; Huang, Hailiang ; Maller, Julian B ; Martin, Alicia R ; Martin, Nicholas G ; Moran, Jennifer ; Pallesen, Jonatan ; Palmer, Duncan S ; Pedersen, Carsten Bøcker ; Pedersen, Marianne Giørtz ; Poterba, Timothy ; Poulsen, Jesper Buchhave ; Ripke, Stephan ; Robinson, Elise B ; Satterstrom, F Kyle ; Stefansson, Hreinn ; Stevens, Christine ; Turley, Patrick ; Walters, G Bragi ; Won, Hyejung ; Wright, Margaret J ; Andreassen, Ole A ; Asherson, Philip ; Burton, Christie L ; Boomsma, Dorret I ; Cormand, Bru ; Dalsgaard, Søren ; Franke, Barbara ; Gelernter, Joel ; Geschwind, Daniel ; Hakonarson, Hakon ; Haavik, Jan ; Kranzler, Henry R ; Kuntsi, Jonna ; Langley, Kate ; Lesch, Klaus-Peter ; Middeldorp, Christel ; Reif, Andreas ; Rohde, Luis Augusto ; Roussos, Panos ; Schachar, Russell ; Sklar, Pamela ; Sonuga-Barke, Edmund J S ; Sullivan, Patrick F ; Thapar, Anita ; Tung, Joyce Y ; Waldman, Irwin D ; Medland, Sarah E ; Stefansson, Kari ; Nordentoft, Merete ; Hougaard, David M ; Werge, Thomas ; Mors, Ole ; Mortensen, Preben Bo ; Daly, Mark J ; Faraone, Stephen V ; Børglum, Anders D ; Neale, Benjamin M

Nature genetics, 2019-01, Vol.51 (1), p.63-75 [Periódico revisado por pares]

United States: Nature Publishing Group

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8
Engineering adeno-associated virus vectors for gene therapy
Engineering adeno-associated virus vectors for gene therapy
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Engineering adeno-associated virus vectors for gene therapy

Li, Chengwen ; Samulski, R Jude

Nature reviews. Genetics, 2020-04, Vol.21 (4), p.255-272 [Periódico revisado por pares]

England: Nature Publishing Group

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9
Candida auris: Epidemiology, biology, antifungal resistance, and virulence
Candida auris: Epidemiology, biology, antifungal resistance, and virulence
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Candida auris: Epidemiology, biology, antifungal resistance, and virulence

Du, Han ; Bing, Jian ; Hu, Tianren ; Ennis, Craig L ; Nobile, Clarissa J ; Huang, Guanghua Xue, Chaoyang

PLoS pathogens, 2020-10, Vol.16 (10), p.e1008921-e1008921 [Periódico revisado por pares]

United States: Public Library of Science

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10
Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition
Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition
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Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition

Rodriguez-Martin, Bernardo ; Alvarez, Eva G ; Baez-Ortega, Adrian ; Zamora, Jorge ; Supek, Fran ; Demeulemeester, Jonas ; Santamarina, Martin ; Ju, Young Seok ; Temes, Javier ; Garcia-Souto, Daniel ; Detering, Harald ; Li, Yilong ; Rodriguez-Castro, Jorge ; Dueso-Barroso, Ana ; Bruzos, Alicia L ; Dentro, Stefan C ; Blanco, Miguel G ; Contino, Gianmarco ; Ardeljan, Daniel ; Tojo, Marta ; Roberts, Nicola D ; Zumalave, Sonia ; Edwards, Paul A ; Weischenfeldt, Joachim ; Puiggròs, Montserrat ; Chong, Zechen ; Chen, Ken ; Lee, Eunjung Alice ; Wala, Jeremiah A ; Raine, Keiran M ; Butler, Adam ; Waszak, Sebastian M ; Navarro, Fabio C P ; Schumacher, Steven E ; Monlong, Jean ; Maura, Francesco ; Bolli, Niccolo ; Bourque, Guillaume ; Gerstein, Mark ; Park, Peter J ; Wedge, David C ; Beroukhim, Rameen ; Torrents, David ; Korbel, Jan O ; Martincorena, Iñigo ; Fitzgerald, Rebecca C ; Van Loo, Peter ; Kazazian, Haig H ; Burns, Kathleen H ; Campbell, Peter J ; Tubio, Jose M C

Nature genetics, 2020-03, Vol.52 (3), p.306-319 [Periódico revisado por pares]

United States: Nature Publishing Group

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