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1
Unique Lipoprotein Phenotype and Genotype Associated With Exceptional Longevity
Unique Lipoprotein Phenotype and Genotype Associated With Exceptional Longevity
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Unique Lipoprotein Phenotype and Genotype Associated With Exceptional Longevity

Barzilai, Nir ; Atzmon, Gil ; Schechter, Clyde ; Schaefer, Ernst J ; Cupples, Adrienne L ; Lipton, Richard ; Cheng, Suzanne ; Shuldiner, Alan R

JAMA : the journal of the American Medical Association, 2003-10, Vol.290 (15), p.2030-2040 [Periódico revisado por pares]

Chicago, IL: American Medical Association

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2
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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3
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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4
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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5
Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors
Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors
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Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

Horikoshi, Momoko ; Laurin, Charles ; Peng, Shouneng ; Hao, Ke ; Feenstra, Bjarke ; Wood, Andrew R ; Robertson, Neil R ; Moen, Gunn-Helen ; Vaudel, Marc ; Marsit, Carmen J ; Nodzenski, Michael ; Schnurr, Theresia M ; Kooijman, Marjolein N ; Li-Gao, Ruifang ; Paternoster, Lavinia ; Rueedi, Rico ; Hottenga, Jouke-Jan ; Lyytikäinen, Leo-Pekka ; Cavadino, Alana ; Metrustry, Sarah ; Wang, Carol A ; Have, Christian T ; Vilor-Tejedor, Natalia ; Joshi, Peter K ; van Leeuwen, Elisabeth M ; Joro, Raimo ; Inskip, Hazel M ; Holloway, John W ; Santa-Marina, Loreto ; Estivill, Xavier ; Reichetzeder, Christoph ; Kogevinas, Manolis ; Chatzi, Leda ; Bouchard, Luigi ; Heikkinen, Jani ; van Kampen, Antoine H C ; Langenberg, Claudia ; Luan, Jian'an ; Scott, Robert A ; Zhao, Jing Hua ; Ring, Susan M ; Bennett, Amanda J ; Gaulton, Kyle J ; Medina-Gomez, Carolina ; de Haan, Hugoline G ; Rosendaal, Frits R ; Marques-Vidal, Pedro ; Willemsen, Gonneke ; Mbarek, Hamdi ; van Beijsterveldt, Catharina E M ; Murcia, Mario ; Bustamante, Mariona ; Bonas-Guarch, Sílvia ; Schraut, Katharina E ; Shields, Beverley M ; Panoutsopoulou, Kalliope ; Bartels, Meike ; Stokholm, Jakob ; Vinding, Rebecca K ; Willems, Sara M ; Atalay, Mustafa ; Prokopenko, Inga ; Tuke, Marcus A ; Yaghootkar, Hanieh ; Jones, Samuel E ; Murray, Anna ; Michaelsen, Kim F ; Eloranta, Aino-Maija ; van Duijn, Cornelia M ; Kiess, Wieland ; Pahkala, Katja ; Jacobsson, Bo ; Wilson, James F ; Vrijkotte, Tanja G M ; Vrijheid, Martine ; de Geus, Eco J C N ; Holm, Jens-Christian ; Beilin, Lawrence J ; Heinrich, Joachim ; Adair, Linda S ; Mohlke, Karen L ; Eriksson, Johan G ; Widén, Elisabeth E ; Spector, Tim D ; Lehtimäki, Terho ; Sebert, Sylvain ; Bisgaard, Hans ; Melbye, Mads ; Nohr, Ellen A ; Hofman, Albert ; Felix, Janine F ; Pedersen, Oluf ; Uitterlinden, André G ; Scholtens, Denise M ; Lowe, Jr, William L ; Davey Smith, George ; Frayling, Timothy M ; Perry, John R B ; Evans, David M ; Freathy, Rachel M

Nature genetics, 2019-05, Vol.51 (5), p.804-814 [Periódico revisado por pares]

United States: Nature Publishing Group

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6
The long tail of oncogenic drivers in prostate cancer
The long tail of oncogenic drivers in prostate cancer
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The long tail of oncogenic drivers in prostate cancer

Armenia, Joshua ; Wankowicz, Stephanie A M ; Liu, David ; Gao, Jianjiong ; Kundra, Ritika ; Reznik, Ed ; Chatila, Walid K ; Chakravarty, Debyani ; Han, G Celine ; Coleman, Ilsa ; Montgomery, Bruce ; Pritchard, Colin ; Morrissey, Colm ; Barbieri, Christopher E ; Beltran, Himisha ; Sboner, Andrea ; Zafeiriou, Zafeiris ; Miranda, Susana ; Bielski, Craig M ; Penson, Alexander V ; Tolonen, Charlotte ; Huang, Franklin W ; Robinson, Dan ; Wu, Yi Mi ; Lonigro, Robert ; Garraway, Levi A ; Demichelis, Francesca ; Kantoff, Philip W ; Taplin, Mary-Ellen ; Abida, Wassim ; Taylor, Barry S ; Scher, Howard I ; Nelson, Peter S ; de Bono, Johann S ; Rubin, Mark A ; Sawyers, Charles L ; Chinnaiyan, Arul M ; Schultz, Nikolaus ; Van Allen, Eliezer M

Nature genetics, 2018-05, Vol.50 (5), p.645-651 [Periódico revisado por pares]

United States: Nature Publishing Group

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7
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease
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Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease

Beck, David B ; Ferrada, Marcela A ; Sikora, Keith A ; Ombrello, Amanda K ; Collins, Jason C ; Pei, Wuhong ; Balanda, Nicholas ; Ross, Daron L ; Ospina Cardona, Daniela ; Wu, Zhijie ; Patel, Bhavisha ; Manthiram, Kalpana ; Groarke, Emma M ; Gutierrez-Rodrigues, Fernanda ; Hoffmann, Patrycja ; Rosenzweig, Sofia ; Nakabo, Shuichiro ; Dillon, Laura W ; Hourigan, Christopher S ; Tsai, Wanxia L ; Gupta, Sarthak ; Carmona-Rivera, Carmelo ; Asmar, Anthony J ; Xu, Lisha ; Oda, Hirotsugu ; Goodspeed, Wendy ; Barron, Karyl S ; Nehrebecky, Michele ; Jones, Anne ; Laird, Ryan S ; Deuitch, Natalie ; Rowczenio, Dorota ; Rominger, Emily ; Wells, Kristina V ; Lee, Chyi-Chia R ; Wang, Weixin ; Trick, Megan ; Mullikin, James ; Wigerblad, Gustaf ; Brooks, Stephen ; Dell’Orso, Stefania ; Deng, Zuoming ; Chae, Jae J ; Dulau-Florea, Alina ; Malicdan, May C.V ; Novacic, Danica ; Colbert, Robert A ; Kaplan, Mariana J ; Gadina, Massimo ; Savic, Sinisa ; Lachmann, Helen J ; Abu-Asab, Mones ; Solomon, Benjamin D ; Retterer, Kyle ; Gahl, William A ; Burgess, Shawn M ; Aksentijevich, Ivona ; Young, Neal S ; Calvo, Katherine R ; Werner, Achim ; Kastner, Daniel L ; Grayson, Peter C

The New England journal of medicine, 2020-12, Vol.383 (27), p.2628-2638 [Periódico revisado por pares]

United States: Massachusetts Medical Society

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8
Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits
Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits
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Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

Gao, He ; Ntritsos, Georgios ; Ng, Fu Liang ; Evangelou, Marina ; Hellwege, Jacklyn N ; Gaziano, J Michael ; Wilson, Peter W F ; Tsao, Philip S ; Milani, Lili ; Boutin, Thibaud ; Holliday, Elizabeth G ; Jackson, Anne U ; Lin, Wei-Yu ; Mangino, Massimo ; Prins, Bram Peter ; Willems, Sara M ; Farrall, Martin ; Morris, Andrew D ; Paré, Guillaume ; Thom, Simon ; Arking, Dan E ; Ayers, Kristin L ; Blake, Tineka ; Bochud, Murielle ; Campbell, Archie ; Campbell, Harry ; Cocca, Massimiliano ; Deary, Ian J ; Deelen, Joris ; Enroth, Stefan ; Ferreira, Teresa ; Franco, Oscar H ; Gandin, Ilaria ; Gudnason, Vilmundur ; Gyllensten, Ulf ; Harris, Tamara B ; Harris, Sarah E ; Havulinna, Aki S ; Hofer, Edith ; Hottenga, Jouke-Jan ; Hwang, Shih-Jen ; Ingelsson, Erik ; Jansen, Rick ; Joshi, Peter K ; Jousilahti, Pekka ; Khaw, Kay-Tee ; Knekt, Paul ; Kolcic, Ivana ; Kooner, Jaspal S ; Koskinen, Seppo ; Larson, Marty ; Launer, Lenore J ; Lin, Li ; Lind, Lars ; Lu, Yingchang ; Lyytikäinen, Leo-Pekka ; Morgan, Anna ; Oldehinkel, Albertine J ; Palotie, Aarno ; Penninx, Brenda W J H ; Polasek, Ozren ; Pramstaller, Peter P ; Rice, Kenneth ; Ridker, Paul M ; Ried, Janina S ; Ripatti, Samuli ; Rudan, Igor ; Samani, Nilesh J ; Sarin, Antti-Pekka ; Schmidt, Reinhold ; Schmidt, Helena ; Shrine, Nick ; Siscovick, David ; Sorice, Rossella ; Stott, David J ; Sundström, Johan ; Taylor, Kent D ; Tomaszewski, Maciej ; Toniolo, Daniela ; Vergnaud, Anne-Claire ; Vitart, Veronique ; Vuckovic, Dragana ; Yao, Jie ; Zhang, Weihua ; Chasman, Daniel I ; Conen, David ; Danesh, John ; Hayward, Caroline ; Howson, Joanna M M ; Laakso, Markku ; Palmer, Colin N A ; Risch, Lorenz ; Scott, Robert A ; Scott, Rodney J ; Wareham, Nicholas J ; Zeggini, Eleftheria ; Newton-Cheh, Christopher ; Brown, Morris J ; Hung, Adriana M ; Psaty, Bruce M

Nature genetics, 2018-10, Vol.50 (10), p.1412-1425 [Periódico revisado por pares]

United States: Nature Publishing Group

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9
Real-Time Reverse Transcription-PCR Expression Profiling of the Complete Human ATP-Binding Cassette Transporter Superfamily in Various Tissues
Real-Time Reverse Transcription-PCR Expression Profiling of the Complete Human ATP-Binding Cassette Transporter Superfamily in Various Tissues
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Real-Time Reverse Transcription-PCR Expression Profiling of the Complete Human ATP-Binding Cassette Transporter Superfamily in Various Tissues

Langmann, Thomas ; Mauerer, Richard ; Zahn, Alexandra ; Moehle, Christoph ; Probst, Mario ; Stremmel, Wolfgang ; Schmitz, Gerd

Clinical chemistry (Baltimore, Md.), 2003-02, Vol.49 (2), p.230-238 [Periódico revisado por pares]

Washington, DC: Am Assoc Clin Chem

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10
Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk
Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk
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Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk

Jansen, Iris E ; Savage, Jeanne E ; Watanabe, Kyoko ; Bryois, Julien ; Williams, Dylan M ; Steinberg, Stacy ; Sealock, Julia ; Karlsson, Ida K ; Hägg, Sara ; Athanasiu, Lavinia ; Voyle, Nicola ; Proitsi, Petroula ; Witoelar, Aree ; Stringer, Sven ; Aarsland, Dag ; Almdahl, Ina S ; Andersen, Fred ; Bergh, Sverre ; Bettella, Francesco ; Bjornsson, Sigurbjorn ; Brækhus, Anne ; Bråthen, Geir ; de Leeuw, Christiaan ; Desikan, Rahul S ; Djurovic, Srdjan ; Dumitrescu, Logan ; Fladby, Tormod ; Hohman, Timothy J ; Jonsson, Palmi V ; Kiddle, Steven J ; Rongve, Arvid ; Saltvedt, Ingvild ; Sando, Sigrid B ; Selbæk, Geir ; Shoai, Maryam ; Skene, Nathan G ; Snaedal, Jon ; Stordal, Eystein ; Ulstein, Ingun D ; Wang, Yunpeng ; White, Linda R ; Hardy, John ; Hjerling-Leffler, Jens ; Sullivan, Patrick F ; van der Flier, Wiesje M ; Dobson, Richard ; Davis, Lea K ; Stefansson, Hreinn ; Stefansson, Kari ; Pedersen, Nancy L ; Ripke, Stephan ; Andreassen, Ole A ; Posthuma, Danielle

Nature genetics, 2019-03, Vol.51 (3), p.404-413 [Periódico revisado por pares]

United States: Nature Publishing Group

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