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A structural variation reference for medical and population genetics
A structural variation reference for medical and population genetics
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A structural variation reference for medical and population genetics

Collins, Ryan L ; Brand, Harrison ; Karczewski, Konrad J ; Zhao, Xuefang ; Alföldi, Jessica ; Francioli, Laurent C ; Khera, Amit V ; Lowther, Chelsea ; Gauthier, Laura D ; Wang, Harold ; Watts, Nicholas A ; Solomonson, Matthew ; O'Donnell-Luria, Anne ; Baumann, Alexander ; Munshi, Ruchi ; Walker, Mark ; Whelan, Christopher W ; Huang, Yongqing ; Brookings, Ted ; Sharpe, Ted ; Stone, Matthew R ; Valkanas, Elise ; Fu, Jack ; Tiao, Grace ; Laricchia, Kristen M ; Ruano-Rubio, Valentin ; Stevens, Christine ; Gupta, Namrata ; Cusick, Caroline ; Margolin, Lauren ; Taylor, Kent D ; Lin, Henry J ; Rich, Stephen S ; Post, Wendy S ; Chen, Yii-Der Ida ; Rotter, Jerome I ; Nusbaum, Chad ; Philippakis, Anthony ; Lander, Eric ; Gabriel, Stacey ; Neale, Benjamin M ; Kathiresan, Sekar ; Daly, Mark J ; Banks, Eric ; MacArthur, Daniel G ; Talkowski, Michael E

Nature (London), 2020-05, Vol.581 (7809), p.444-451 [Periódico revisado por pares]

England: Nature Publishing Group

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2
Bring on the biomarkers
Bring on the biomarkers
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Bring on the biomarkers

Poste, George

Nature (London), 2011-01, Vol.469 (7329), p.156-157 [Periódico revisado por pares]

England: Nature Publishing Group

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3
Regulation: The FDA is overcautious on consumer genomics
Regulation: The FDA is overcautious on consumer genomics
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Regulation: The FDA is overcautious on consumer genomics

Green, Robert C ; Farahany, Nita A

Nature (London), 2014-01, Vol.505 (7483), p.286-287 [Periódico revisado por pares]

England

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4
An agenda for personalized medicine
An agenda for personalized medicine
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An agenda for personalized medicine

Ng, Pauline C ; Murray, Sarah S ; Venter, J. Craig ; Levy, Samuel

Nature (London), 2009-10, Vol.461 (7265), p.724-726 [Periódico revisado por pares]

England: Nature Publishing Group

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5
Genome-wide association study in Asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus
Genome-wide association study in Asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus
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Genome-wide association study in Asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus

Yang, Wanling ; Shen, Nan ; Ye, Dong-Qing ; Liu, Qiji ; Zhang, Yan ; Qian, Xiao-Xia ; Hirankarn, Nattiya ; Ying, Dingge ; Pan, Hai-Feng ; Mok, Chi Chiu ; Chan, Tak Mao ; Wong, Raymond Woon Sing ; Lee, Ka Wing ; Mok, Mo Yin ; Wong, Sik Nin ; Leung, Alexander Moon Ho ; Li, Xiang-Pei ; Avihingsanon, Yingyos ; Wong, Chun-Ming ; Lee, Tsz Leung ; Ho, Marco Hok Kung ; Lee, Pamela Pui Wah ; Chang, Yuk Kwan ; Li, Philip H ; Li, Ruo-Jie ; Zhang, Lu ; Wong, Wilfred Hing Sang ; Ng, Irene Oi Lin ; Lau, Chak Sing ; Sham, Pak Chung ; Lau, Yu Lung Flint, Jonathan

PLoS genetics, 2010-02, Vol.6 (2), p.e1000841-e1000841 [Periódico revisado por pares]

United States: Public Library of Science

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6
Simulation based virtual learning environment in medical genetics counseling: an example of bridging the gap between theory and practice in medical education
Simulation based virtual learning environment in medical genetics counseling: an example of bridging the gap between theory and practice in medical education
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Simulation based virtual learning environment in medical genetics counseling: an example of bridging the gap between theory and practice in medical education

Makransky, Guido ; Bonde, Mads T ; Wulff, Julie S G ; Wandall, Jakob ; Hood, Michelle ; Creed, Peter A ; Bache, Iben ; Silahtaroglu, Asli ; Nørremølle, Anne

BMC medical education, 2016-03, Vol.16 (1), p.98-98, Article 98 [Periódico revisado por pares]

England: BioMed Central Ltd

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7
Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy
Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy
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Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy

Harper, Joyce ; Geraedts, Joep ; Borry, Pascal ; Cornel, Martina C ; Dondorp, Wybo J ; Gianaroli, Luca ; Harton, Gary ; Milachich, Tanya ; Kääriäinen, Helena ; Liebaers, Inge ; Morris, Michael ; Sequeiros, Jorge ; Sermon, Karen ; Shenfield, Françoise ; Skirton, Heather ; Soini, Sirpa ; Spits, Claudia ; Veiga, Anna ; Vermeesch, Joris Robert ; Viville, Stéphane ; de Wert, Guido ; Macek, Jr, Milan

Human reproduction (Oxford), 2014-08, Vol.29 (8), p.1603-1609 [Periódico revisado por pares]

England

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8
Rapid deployment of a telemedicine care model for genetics and metabolism during COVID‐19
Rapid deployment of a telemedicine care model for genetics and metabolism during COVID‐19
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Rapid deployment of a telemedicine care model for genetics and metabolism during COVID‐19

Shur, Natasha ; Atabaki, Shireen M. ; Kisling, Monisha S. ; Tabarani, Abir ; Williams, Clarence ; Fraser, Jamie L. ; Regier, Debra ; Summar, Marshall

American journal of medical genetics. Part A, 2021-01, Vol.185 (1), p.68-72 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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9
American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing
American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing
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American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing

Rehder, Catherine W ; David, Karen L ; Hirsch, Betsy ; Toriello, Helga V ; Wilson, Carolyn M ; Kearney, Hutton M

Genetics in medicine, 2013-02, Vol.15 (2), p.150-152 [Periódico revisado por pares]

United States: Elsevier Limited

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10
A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci
A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci
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A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci

Liu, Ying ; Helms, Cynthia ; Liao, Wilson ; Zaba, Lisa C ; Duan, Shenghui ; Gardner, Jennifer ; Wise, Carol ; Miner, Andrew ; Malloy, M J ; Pullinger, Clive R ; Kane, John P ; Saccone, Scott ; Worthington, Jane ; Bruce, Ian ; Kwok, Pui-Yan ; Menter, Alan ; Krueger, James ; Barton, Anne ; Saccone, Nancy L ; Bowcock, Anne M Leal, Suzanne M.

PLoS genetics, 2008-04, Vol.4 (3), p.e1000041-e1000041 [Periódico revisado por pares]

United States: Public Library of Science

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