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Publications

2014
Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia, Murali, Chaya, Lu James T., Jain Mahim, Liu David S., Lachman Ralph, Gibbs Richard A., Lee Brendan H., Cohn Daniel, and Campeau Philippe M. , Molecular Genetics and Metabolism Reports, 2014, Volume 1, p.213 - 219, (2014)
Drosophila eyes absent is required for normal cone and pigment cell development., Karandikar, Umesh C., Jin Meng, Jusiak Barbara, Kwak SuJin, Chen Rui, and Mardon Graeme , PloS one, 2014, Volume 9, Issue 7, p.e102143, (2014) Abstract
The effect of dietary fat intake on hepatic gene expression in LG/J AND SM/J mice., Partridge, Charlyn G., Fawcett Gloria L., Wang Bing, Semenkovich Clay F., and Cheverud James M. , BMC genomics, 2014, Volume 15, p.99, (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
Genomic and proteomic analysis of transcription factor TFII-I reveals insight into the response to cellular stress., Fan, Alex Xiucheng, Papadopoulos Giorgio L., Hossain Mir A., Lin I-Ju, Hu Jianhong, Tang Tommy Ming, Kilberg Michael S., Renne Rolf, Strouboulis John, and Bungert Jörg , Nucleic acids research, 2014, Volume 42, Issue 12, p.7625-41, (2014) Abstract
Genomic sequencing for cancer diagnosis and therapy., Wang, Linghua, and Wheeler David A. , Annual review of medicine, 2014, Volume 65, p.33-48, (2014) Abstract
The Glanville fritillary genome retains an ancient karyotype and reveals selective chromosomal fusions in Lepidoptera., Ahola, Virpi, Lehtonen Rainer, Somervuo Panu, Salmela Leena, Koskinen Patrik, Rastas Pasi, Välimäki Niko, Paulin Lars, Kvist Jouni, Wahlberg Niklas, et al. , Nature communications, 2014, Volume 5, p.4737, (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
Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline., Reid, Jeffrey G., Carroll Andrew, Veeraraghavan Narayanan, Dahdouli Mahmoud, Sundquist Andreas, English Adam, Bainbridge Matthew, White Simon, Salerno William, Buhay Christian, et al. , BMC bioinformatics, 2014, Volume 15, p.30, (2014) Abstract
Leveraging biological replicates to improve analysis in ChIP-seq experiments., Yang, Yajie, Fear Justin, Hu Jianhong, Haecker Irina, Zhou Lei, Renne Rolf, Bloom David, and McIntyre Lauren M. , Computational and structural biotechnology journal, 2014, Volume 9, p.e201401002, (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
Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients., Scollon, Sarah, Bergstrom Katie, Kerstein Robin A., Wang Tao, Hilsenbeck Susan G., Ramamurthy Uma, Gibbs Richard A., Eng Christine M., Chintagumpala Murali M., Berg Stacey L., et al. , Genome medicine, 2014, Volume 6, Issue 9, p.69, (2014) Abstract
Open access data sharing in genomic research., Pereira, Stacey, Gibbs Richard A., and McGuire Amy L. , Genes, 2014, Volume 5, Issue 3, p.739-47, (2014) Abstract
PBHoney: identifying genomic variants via long-read discordance and interrupted mapping., English, Adam C., Salerno William J., and Reid Jeffrey G. , BMC bioinformatics, 2014, Volume 15, p.180, (2014) Abstract
Possible race and gender divergence in association of genetic variations with plasma von Willebrand factor: a study of ARIC and 1000 genome cohorts., Zhou, Zhou, Yu Fuli, Buchanan Ashley, Fu Yuanyuan, Campos Marco, Wu Kenneth K., Chambless Lloyd E., Folsom Aaron R., Boerwinkle Eric, and Dong Jing-fei , PloS one, 2014, Volume 9, Issue 1, p.e84810, (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
Regulation of Drosophila eye development by the transcription factor Sine oculis., Jusiak, Barbara, Karandikar Umesh C., Kwak Su-Jin, Wang Feng, Wang Hui, Chen Rui, and Mardon Graeme , PloS one, 2014, Volume 9, Issue 2, p.e89695, (2014) Abstract
Sequence Analysis of Six Blood Pressure Candidate Regions in 4,178 Individuals: The Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study., Morrison, Alanna C., Bis Joshua C., Hwang Shih-Jen, Ehret Georg B., Lumley Thomas, Rice Kenneth, Muzny Donna, Gibbs Richard A., Boerwinkle Eric, Psaty Bruce M., et al. , PloS one, 2014, Volume 9, Issue 10, p.e109155, (2014) Abstract
Sequence Analysis of Six Blood Pressure Candidate Regions in 4,178 Individuals: The Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study., Morrison, Alanna C., Bis Joshua C., Hwang Shih-Jen, Ehret Georg B., Lumley Thomas, Rice Kenneth, Muzny Donna, Gibbs Richard A., Boerwinkle Eric, Psaty Bruce M., et al. , PloS one, 2014, Volume 9, Issue 10, p.e109155, (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
Inactivating Mutations in NPC1L1 and Protection from Coronary Heart Disease, , New England Journal of Medicine, 11/2014, p.141112140016008, (2014)
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)
Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population, Gonzaga-Jauregui, Claudia, Gamble Candace N., Yuan Bo, Penney Samantha, Jhangiani Shalini, Muzny Donna M., Gibbs Richard A., Lupski James R., and Hecht Jacqueline T. , European Journal of Human Genetics, 07/2014, (2014)


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