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2014
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway., Enns, Gregory M., Shashi Vandana, Bainbridge Matthew, Gambello Michael J., Zahir Farah R., Bast Thomas, Crimian Rebecca, Schoch Kelly, Platt Julia, Cox Rachel, et al. , Genetics in medicine : official journal of the American College of Medical Genetics, 2014 Mar 20, (2014) Abstract
Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome., Wangler, Michael F., Gonzaga-Jauregui Claudia, Gambin Tomasz, Penney Samantha, Moss Timothy, Chopra Atul, Probst Frank J., Xia Fan, Yang Yaping, Werlin Steven, et al. , PLoS genetics, 2014 Mar, Volume 10, Issue 3, p.e1004258, (2014) Abstract
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements., Wang, Feng, Wang Hui, Tuan Han-Fang, Nguyen Duy H., Sun Vincent, Keser Vafa, Bowne Sara J., Sullivan Lori S., Luo Hongrong, Zhao Ling, et al. , Human genetics, 2014 Mar, Volume 133, Issue 3, p.331-45, (2014) Abstract
The sheep genome illuminates biology of the rumen and lipid metabolism., Jiang, Yu, Xie Min, Chen Wenbin, Talbot Richard, Maddox Jillian F., Faraut Thomas, Wu Chunhua, Muzny Donna M., Li Yuxiang, Zhang Wenguang, et al. , Science (New York, N.Y.), 2014 Jun 6, Volume 344, Issue 6188, p.1168-73, (2014) Abstract
Novel somatic and germline mutations in intracranial germ cell tumours., Wang, Linghua, Yamaguchi Shigeru, Burstein Matthew D., Terashima Keita, Chang Kyle, Ng Ho-Keung, Nakamura Hideo, He Zongxiao, Doddapaneni Harshavardhan, Lewis Lora, et al. , Nature, 2014 Jun 4, (2014) Abstract
The genetic basis of DOORS syndrome: an exome-sequencing study., Campeau, Philippe M., Kasperaviciute Dalia, Lu James T., Burrage Lindsay C., Kim Choel, Hori Mutsuki, Powell Berkley R., Stewart Fiona, Félix Têmis Maria, van den Ende Jenneke, et al. , Lancet neurology, 2014 Jan, Volume 13, Issue 1, p.44-58, (2014) Abstract
Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks., Peloso, Gina M., Auer Paul L., Bis Joshua C., Voorman Arend, Morrison Alanna C., Stitziel Nathan O., Brody Jennifer A., Khetarpal Sumeet A., Crosby Jacy R., Fornage Myriam, et al. , American journal of human genetics, 2014 Feb 6, Volume 94, Issue 2, p.223-32, (2014) Abstract
Multilayer-omics analysis of renal cell carcinoma, including the whole exome, methylome and transcriptome., Arai, Eri, Sakamoto Hiromi, Ichikawa Hitoshi, Totsuka Hirohiko, Chiku Suenori, Gotoh Masahiro, Mori Taisuke, Nakatani Tamao, Ohnami Sumiko, Nakagawa Tohru, et al. , International journal of cancer. Journal international du cancer, 2014 Feb 6, (2014) Abstract
Untangling the influences of unmodeled evolutionary processes on phylogenetic signal in a forensically important HIV-1 transmission cluster., Doyle, Vinson P., Andersen John J., Nelson Bradley J., Metzker Michael L., and Brown Jeremy M. , Molecular phylogenetics and evolution, 2014 Feb 28, Volume 75C, p.126-137, (2014) Abstract
Serum Metabolomic Profiling and Incident CKD among African Americans., Yu, Bing, Zheng Yan, Nettleton Jennifer A., Alexander Danny, Coresh Josef, and Boerwinkle Eric , Clinical journal of the American Society of Nephrology : CJASN, 2014 Aug 7, Volume 9, Issue 8, p.1410-7, (2014) Abstract
Metabolomic patterns and alcohol consumption in African Americans in the Atherosclerosis Risk in Communities Study., Zheng, Yan, Yu Bing, Alexander Danny, Steffen Lyn M., Nettleton Jennifer A., and Boerwinkle Eric , The American journal of clinical nutrition, 2014 Apr 23, (2014) Abstract
Why primate models matter., Phillips, Kimberley A., Bales Karen L., Capitanio John P., Conley Alan, Czoty Paul W., 't Hart Bert A., Hopkins William D., Hu Shiu-Lok, Miller Lisa A., Nader Michael A., et al. , American journal of primatology, 2014 Apr 10, (2014) Abstract
Advances in translational bioinformatics facilitate revealing the landscape of complex disease mechanisms., Yang, Jack Y., Dunker A., Liu Jun S., Qin Xiang, Arabnia Hamid R., Yang William, Niemierko Andrzej, Chen Zhongxue, Luo Zuojie, Wang Liangjiang, et al. , BMC bioinformatics, 2014, Volume 15 Suppl 17, p.I1, (2014) Abstract
Analysis of prostate-specific antigen transcripts in chimpanzees, cynomolgus monkeys, baboons, and african green monkeys., Mubiru, James N., Yang Alice S., Olsen Christian, Nayak Sudhir, Livi Carolina B., Dick Edward J., Owston Michael, Garcia-Forey Magdalena, Shade Robert E., and Rogers Jeffrey , PloS one, 2014, Volume 9, Issue 4, p.e94522, (2014) Abstract
The emerging genomics and systems biology research lead to systems genomics studies., Yang, Mary Qu, Yoshigoe Kenji, Yang William, Tong Weida, Qin Xiang, Dunker A., Chen Zhongxue, Arbania Hamid R., Liu Jun S., Niemierko Andrzej, et al. , BMC genomics, 2014, Volume 15 Suppl 11, p.I1, (2014) Abstract
Identification of genes and pathways involved in kidney renal clear cell carcinoma., Yang, William, Yoshigoe Kenji, Qin Xiang, Liu Jun S., Yang Jack Y., Niemierko Andrzej, Deng Youping, Liu Yunlong, Dunker A., Chen Zhongxue, et al. , BMC bioinformatics, 2014, Volume 15 Suppl 17, p.S2, (2014) Abstract
No evidence for genome-wide interactions on plasma fibrinogen by smoking, alcohol consumption and body mass index: results from meta-analyses of 80,607 subjects., Baumert, Jens, Huang Jie, McKnight Barbara, Sabater-Lleal Maria, Steri Maristella, Chu Audrey Y., Trompet Stella, Lopez Lorna M., Fornage Myriam, Teumer Alexander, et al. , PloS one, 2014, Volume 9, Issue 12, p.e111156, (2014) Abstract
Prospective associations of coronary heart disease loci in African Americans using the MetaboChip: the PAGE study., Franceschini, Nora, Hu Yijuan, Reiner Alex P., Buyske Steven, Nalls Mike, Yanek Lisa R., Li Yun, Hindorff Lucia A., Cole Shelley A., Howard Barbara V., et al. , PloS one, 2014, Volume 9, Issue 12, p.e113203, (2014) Abstract
Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia., Sheehan, Vivien A., Crosby Jacy R., Sabo Aniko, Mortier Nicole A., Howard Thad A., Muzny Donna M., Dugan-Perez Shannon, Aygun Banu, Nottage Kerri A., Boerwinkle Eric, et al. , PloS one, 2014, Volume 9, Issue 10, p.e110740, (2014) Abstract
Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing, Yang, Yaping, Muzny Donna M., Xia Fan, Niu Zhiyv, Person Richard, Ding Yan, Ward Patricia, Braxton Alicia, Wang Min, Buhay Christian, et al. , JAMA, 11/2014, Volume 312, Issue 18, p.1870, (2014)
Trans-ancestry mutational landscape of hepatocellular carcinoma genomes, Totoki, Yasushi, Tatsuno Kenji, Covington Kyle R., Ueda Hiroki, Creighton Chad J., Kato Mamoru, Tsuji Shingo, Donehower Lawrence A., Slagle Betty L., Nakamura Hiromi, et al. , Nature Genetics, 11/2014, (2014)
Next-generation sequencing identifies rare variants associated with Noonan syndrome, Chen, P. - C., Yin J., Yu H. - W., Yuan T., Fernandez M., Yung C. K., Trinh Q. M., Peltekova V. D., Reid J. G., Tworog-Dube E., et al. , Proceedings of the National Academy of Sciences, 08/2014, Volume 111, Issue 31, p.11473 - 11478, (2014)
PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia, Stray-Pedersen, Asbjørg, Backe Paul H., Sorte Hanne S., Mørkrid Lars, Chokshi Niti Y., Erichsen Hans Christian, Gambin Tomasz, Elgstøen Katja B.P., Bjørås Magnar, Wlodarski Marcin W., et al. , The American Journal of Human Genetics, 07/2014, Volume 95, Issue 1, p.96 - 107, (2014)
Squamous Cell Carcinoma of the Oral Tongue in Young Non-Smokers Is Genomically Similar to Tumors in Older Smokers, Pickering, C. R., Zhang J., Neskey D. M., Zhao M., Jasser S. A., Wang J., Ward A., Tsai C. J., Ortega Alves M. V., Zhou J. H., et al. , Clinical Cancer Research, 07/2014, Volume 20, Issue 14, p.3842 - 3848, (2014)
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway, Enns, Gregory M., Shashi Vandana, Bainbridge Matthew, Gambello Michael J., Zahir Farah R., Bast Thomas, Crimian Rebecca, Schoch Kelly, Platt Julia, Cox Rachel, et al. , Genetics in Medicine, 03/2014, (2014)


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