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Genetics in Medicine, ISSN 1098-3600, 2018, Volume 21, Issue 8, pp. 1781 - 1789
Purpose: To identify the economic impact of pediatric patients with clinical indications of genetic disease (GD) on the US healthcare system. Methods: Using... 
health-care utilization | cost | genetic disease | economic burden | pediatrics | GENETICS & HEREDITY | BIRTH-DEFECTS | OUTCOMES | CHILDREN
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 02/2019, Volume 21, Issue 9, pp. 2161 - 2161
This Article was originally published under Nature Research's License to Publish, but has now been made available under a [CC BY-NC-ND 4.0] license. The PDF... 
Journal Article
Journal Article
by Frazer, Kelly A and Ballinger, Dennis G and Cox, David R and Hinds, David A and Stuve, Laura L and Gibbs, Richard A and Belmont, John W and Boudreau, Andrew and Hardenbol, Paul and Leal, Suzanne M and Pasternak, Shiran and Wheeler, David A and Willis, Thomas D and Yu, Fuli and Yang, Huanming and Zeng, Changqing and Gao, Yang and Hu, Haoran and Hu, Weitao and Li, Chaohua and Lin, Wei and Liu, Siqi and Pan, Hao and Tang, Xiaoli and Wang, Jian and Wang, Wei and Yu, Jun and Zhang, Bo and Zhang, Qingrun and Zhao, Hongbin and Zhao, Hui and Zhou, Jun and Gabriel, Stacey B and Barry, Rachel and Blumenstiel, Brendan and Camargo, Amy and Defelice, Matthew and Faggart, Maura and Goyette, Mary and Gupta, Supriya and Moore, Jamie and Nguyen, Huy and Onofrio, Robert C and Parkin, Melissa and Roy, Jessica and Stahl, Erich and Winchester, Ellen and Ziaugra, Liuda and Altshuler, David and Shen, Yan and Yao, Zhijian and Huang, Wei and Chu, Xun and He, Yungang and Jin, Li and Liu, Yangfan and Shen, Yayun and Sun, Weiwei and Wang, Haifeng and Wang, Yi and Wang, Ying and Xiong, Xiaoyan and Xu, Liang and Waye, Mary M. Y and Tsui, Stephen K. W and Xue, Hong and Wong, J. Tze-Fei and Galver, Luana M and Fan, Jian-Bing and Gunderson, Kevin and Murray, Sarah S and Oliphant, Arnold R and Chee, Mark S and Montpetit, Alexandre and Chagnon, Fanny and Ferretti, Vincent and Leboeuf, Martin and Olivier, Jean-François and Phillips, Michael S and Roumy, Stéphanie and Sallée, Clémentine and Verner, Andrei and Hudson, Thomas J and Kwok, Pui-Yan and Cai, Dongmei and Koboldt, Daniel C and Miller, Raymond D and Pawlikowska, Ludmila and Taillon-Miller, Patricia and Xiao, Ming and Tsui, Lap-Chee and Mak, William and You, Qiang Song and Tam, Paul K. H and Nakamura, Yusuke and Kawaguchi, Takahisa and Kitamoto, Takuya and Morizono, Takashi and Nagashima, Atsushi and Ohnishi, Yozo and ... and Int HapMap Consortium and International HapMap Consortium and The International HapMap Consortium
Nature, ISSN 0028-0836, 10/2007, Volume 449, Issue 7164, pp. 851 - 861
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 04/2019
Maternal diabetes is a known teratogen that can cause a wide spectrum of birth defects, collectively referred to as diabetic embryopathy (DE). However, the... 
Journal Article
by Belmont, John W and Boudreau, Andrew and Leal, Suzanne M and Hardenbol, Paul and Pasternak, Shiran and Wheeler, David A and Willis, Thomas D and Yu, Fuli and Yang, Huanming and Gao, Yang and Hu, Haoran and Hu, Weitao and Li, Chaohua and Lin, Wei and Liu, Siqi and Pan, Hao and Tang, Xiaoli and Wang, Jian and Wang, Wei and Yu, Jun and Zhang, Bo and Zhang, Qingrun and Zhao, Hongbin and Zhou, Jun and Barry, Rachel and Blumenstiel, Brendan and Camargo, Amy and Defelice, Matthew and Faggart, Maura and Goyette, Mary and Gupta, Supriya and Moore, Jamie and Nguyen, Huy and Parkin, Melissa and Roy, Jessica and Stahl, Erich and Winchester, Ellen and Altshuler, David and Shen, Yan and Yao, Zhijian and Huang, Wei and Chu, Xun and He, Yungang and Jin, Li and Liu, Yangfan and Shen, Yayun and Sun, Weiwei and Wang, Haifeng and Wang, Yi and Wang, Ying and Xiong, Xiaoyan and Xu, Liang and Waye, Mary M. Y and Tsui, Stephen K. W and Xue, Hong and Wong, J. Tze-Fei and Galver, Launa M and Fan, Jian-Bing and Murray, Sarah S and Oliphant, Arnold R and Chee, Mark S and Montpetit, Alexandre and Chagnon, Fanny and Ferretti, Vincent and Leboeuf, Martin and Olivier, Jean-François and Phillips, Michael S and Roumy, Stéphanie and Sallée, Clémentine and Verner, Andrei and Hudson, Thomas J and Frazer, Kelly A and Ballinger, Dennis G and Cox, David R and Hinds, David A and Stuve, Laura L and Kwok, Pui-Yan and Cai, Dongmei and Koboldt, Daniel C and Miller, Raymond D and Pawlikowska, Ludmila and Taillon-Miller, Patricia and Xiao, Ming and Tsui, Lap-Chee and Mak, William and Sham, Pak C and Song, You Qiang and Tam, Paul K. H and Nakamura, Yusuke and Kawaguchi, Takahisa and Kitamoto, Takuya and Morizono, Takashi and Nagashima, Atsushi and Ohnishi, Yozo and Sekine, Akihiro and Tanaka, Toshihiro and Deloukas, Panos and Bird, Christine P and Delgado, Marcos and Dermitzakis, Emmanouil T and ... and Int HapMap Consortium and International HapMap Consortium and The International HapMap Consortium
Nature, ISSN 0028-0836, 10/2005, Volume 437, Issue 7063, pp. 1299 - 1320
Journal Article
eLife, ISSN 2050-084X, 08/2016, Volume 5
Perturbation eQTLs are associations of gene expression with genotype that may change in magnitude, direction, or only appear after exposure of individuals to... 
Genomic analysis | Immune response | Gene expression | Associations | Influenza | Vaccination
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 10/2016, Volume 99, Issue 4, p. 886
Disruption of the establishment of left-right (L-R) asymmetry leads to situs anomalies ranging from situs inversus totalis (SIT) to situs ambiguus... 
Allelomorphism | Nucleotide sequencing | Gene mutations | Health aspects | Methods | DNA sequencing
Journal Article
Journal Article
Circulation, ISSN 0009-7322, 11/2015, Volume 132, Issue Suppl_3 Suppl 3, pp. A17616 - A17616
IntroductionBicuspid Aortic Valve (BAV) is the most common adult congenital heart defect. The spectrum of BAV ranges from chromosomal disorders such as Turner... 
Journal Article