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Material Type: Artigo
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Whole genome sequencing of 4,787 individuals identifies gene-based rare variants in age-related macular degenerationKwong, Alan ; Zawistowski, Matthew ; Fritsche, Lars G ; Zhan, Xiaowei ; Bragg-Gresham, Jennifer ; Branham, Kari E ; Advani, Jayshree ; Othman, Mohammad ; Ratnapriya, Rinki ; Teslovich, Tanya M ; Stambolian, Dwight ; Chew, Emily Y ; Abecasis, Gonçalo R ; Swaroop, AnandHuman molecular genetics, 2024-02, Vol.33 (4), p.374-385 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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A Polynesian-specific missense CETP variant alters the lipid profileMoors, Jaye ; Krishnan, Mohanraj ; Sumpter, Nick ; Takei, Riku ; Bixley, Matt ; Cadzow, Murray ; Major, Tanya J. ; Phipps-Green, Amanda ; Topless, Ruth ; Merriman, Marilyn ; Rutledge, Malcolm ; Morgan, Ben ; Carlson, Jenna C. ; Zhang, Jerry Z. ; Russell, Emily M. ; Sun, Guangyun ; Cheng, Hong ; Weeks, Daniel E. ; Naseri, Take ; Reupena, Muagututi’a Sefuiva ; Viali, Satupa’itea ; Tuitele, John ; Hawley, Nicola L. ; Deka, Ranjan ; McGarvey, Stephen T. ; de Zoysa, Janak ; Murphy, Rinki ; Dalbeth, Nicola ; Stamp, Lisa ; Taumoepeau, Mele ; King, Frances ; Wilcox, Phillip ; Rapana, Nuku ; McCormick, Sally ; Minster, Ryan L. ; Merriman, Tony R. ; Leask, MeganHGG advances, 2023-07, Vol.4 (3), p.100204-100204, Article 100204 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Genome-wide association analysis identifies ancestry-specific genetic variation associated with acute response to metformin and glipizide in SUGAR-MGHLi, Josephine H. ; Brenner, Laura N. ; Kaur, Varinderpal ; Figueroa, Katherine ; Schroeder, Philip ; Huerta-Chagoya, Alicia ; Udler, Miriam S. ; Leong, Aaron ; Mercader, Josep M. ; Florez, Jose C.Diabetologia, 2023-07, Vol.66 (7), p.1260-1272 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Artigo
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Neuroanatomical Alterations in the CNTNAP2 Mouse Model of Autism Spectrum DisorderGandhi, Tanya ; Canepa, Cade R ; Adeyelu, Tolulope T ; Adeniyi, Philip A ; Lee, Charles CBrain sciences, 2023-05, Vol.13 (6), p.891 [Periódico revisado por pares]Switzerland: MDPI AGTexto completo disponível |
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Material Type: Artigo
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Behavioral regulation by perineuronal nets in the prefrontal cortex of the CNTNAP2 mouse model of autism spectrum disorderGandhi, Tanya ; Liu, Chin-Chi ; Adeyelu, Tolulope T ; Canepa, Cade R ; Lee, Charles CFrontiers in behavioral neuroscience, 2023-03, Vol.17, p.1114789-1114789 [Periódico revisado por pares]Switzerland: Frontiers Research FoundationTexto completo disponível |
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Material Type: Artigo
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Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studiesLi, Xihao ; Quick, Corbin ; Zhou, Hufeng ; Gaynor, Sheila M ; Liu, Yaowu ; Chen, Han ; Selvaraj, Margaret Sunitha ; Sun, Ryan ; Dey, Rounak ; Arnett, Donna K ; Bielak, Lawrence F ; Bis, Joshua C ; Blangero, John ; Boerwinkle, Eric ; Bowden, Donald W ; Brody, Jennifer A ; Cade, Brian E ; Correa, Adolfo ; Cupples, L Adrienne ; Curran, Joanne E ; de Vries, Paul S ; Duggirala, Ravindranath ; Freedman, Barry I ; Göring, Harald H H ; Guo, Xiuqing ; Haessler, Jeffrey ; Kalyani, Rita R ; Kooperberg, Charles ; Kral, Brian G ; Lange, Leslie A ; Manichaikul, Ani ; Martin, Lisa W ; McGarvey, Stephen T ; Mitchell, Braxton D ; Montasser, May E ; Morrison, Alanna C ; Naseri, Take ; O'Connell, Jeffrey R ; Palmer, Nicholette D ; Peyser, Patricia A ; Psaty, Bruce M ; Raffield, Laura M ; Redline, Susan ; Reiner, Alexander P ; Reupena, Muagututi'a Sefuiva ; Rice, Kenneth M ; Rich, Stephen S ; Sitlani, Colleen M ; Smith, Jennifer A ; Taylor, Kent D ; Vasan, Ramachandran S ; Willer, Cristen J ; Wilson, James G ; Yanek, Lisa R ; Zhao, Wei ; Rotter, Jerome I ; Natarajan, Pradeep ; Peloso, Gina M ; Li, Zilin ; Lin, XihongNature genetics, 2023-01, Vol.55 (1), p.154-164 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Newsletter Articles
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Findings from Regeneron Pharmaceuticals in the Area of Glaucoma ReportedGene Therapy Weekly, 2022, p.122NewsRX LLCTexto completo disponível |
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Material Type: Artigo
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Disentangling Genetic Risks for Metabolic Syndromevan Walree, Eva S ; Jansen, Iris E ; Bell, Nathaniel Y ; Savage, Jeanne E ; de Leeuw, Christiaan ; Nieuwdorp, Max ; van der Sluis, Sophie ; Posthuma, DanielleDiabetes (New York, N.Y.), 2022-11, Vol.71 (11), p.2447-2457 [Periódico revisado por pares]United States: American Diabetes AssociationTexto completo disponível |
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Material Type: Artigo
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ANGPTL7, a therapeutic target for increased intraocular pressure and glaucomaPraveen, Kavita ; Patel, Gaurang C ; Gurski, Lauren ; Ayer, Ariane H ; Persaud, Trikaladarshi ; Still, Matthew D ; Miloscio, Lawrence ; Van Zyl, Tavé ; Di Gioia, Silvio Alessandro ; Brumpton, Ben ; Krebs, Kristi ; Åsvold, Bjørn Olav ; Chen, Esteban ; Chavali, Venkata R M ; Fury, Wen ; Gudiseva, Harini V ; Hyde, Sarah ; Jorgenson, Eric ; Lefebvre, Stephanie ; Li, Dadong ; Li, Alexander ; Mclninch, James ; Patel, Brijeshkumar ; Rabinowitz, Jeremy S ; Salowe, Rebecca ; Schurmann, Claudia ; Seidelin, Anne-Sofie ; Stahl, Eli ; Sun, Dylan ; Teslovich, Tanya M ; Tybjærg-Hansen, Anne ; Willer, Cristen ; Waldron, Scott ; Walley, Sabrina ; Yang, Hua ; Zaveri, Sarthak ; Hu, Ying ; Hveem, Kristian ; Melander, Olle ; Milani, Lili ; Stender, Stefan ; O'Brien, Joan M ; Jones, Marcus B ; Abecasis, Gonçalo R ; Cantor, Michael N ; Weyne, Jonathan ; Karalis, Katia ; Economides, Aris ; Della Gatta, Giusy ; Ferreira, Manuel A ; Yancopoulos, George D ; Baras, Aris ; Romano, Carmelo ; Coppola, GiovanniCommunications biology, 2022-10, Vol.5 (1), p.1051-1051, Article 1051 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Crosstalk between Host Genome and Metabolome among People with HIV in South AfricaLiu, Chang ; Wang, Zicheng ; Hui, Qin ; Chiang, Yiyun ; Chen, Junyu ; Brijkumar, Jaysingh ; Edwards, Johnathan A ; Ordonez, Claudia E ; Dudgeon, Mathew R ; Sunpath, Henry ; Pillay, Selvan ; Moodley, Pravi ; Kuritzkes, Daniel R ; Moosa, Mohamed Y S ; Jones, Dean P ; Marconi, Vincent C ; Sun, Yan VMetabolites, 2022-07, Vol.12 (7), p.624 [Periódico revisado por pares]Switzerland: MDPI AGTexto completo disponível |