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Publications

2013
Incidental copy-number variants identified by routine genome testing in a clinical population., Boone, Philip M., Soens Zachry T., Campbell Ian M., Stankiewicz Pawel, Cheung Sau Wai, Patel Ankita, Beaudet Arthur L., Plon Sharon E., Shaw Chad A., McGuire Amy L., et al. , Genetics in medicine : official journal of the American College of Medical Genetics, 2013 Jan, Volume 15, Issue 1, p.45-54, (2013) Abstract
MLH1-silenced and non-silenced subgroups of hypermutated colorectal carcinomas have distinct mutational landscapes., Donehower, Lawrence A., Creighton Chad J., Schultz Nikolaus, Shinbrot Eve, Chang Kyle, Gunaratne Preethi H., Muzny Donna, Sander Chris, Hamilton Stanley R., Gibbs Richard A., et al. , The Journal of pathology, 2013 Jan, Volume 229, Issue 1, p.99-110, (2013) Abstract
OikoBase: a genomics and developmental transcriptomics resource for the urochordate Oikopleura dioica., Danks, Gemma, Campsteijn Coen, Parida Mrutyunjaya, Butcher Stephen, Doddapaneni Harsha, Fu Bolei, Petrin Raul, Metpally Raghu, Lenhard Boris, Wincker Patrick, et al. , Nucleic acids research, 2013 Jan, Volume 41, Issue Database issue, p.D845-53, (2013) Abstract
Seafood consumption and blood mercury concentrations in Jamaican children with and without autism spectrum disorders., Rahbar, Mohammad H., Samms-Vaughan Maureen, Loveland Katherine A., Ardjomand-Hessabi Manouchehr, Chen Zhongxue, Bressler Jan, Shakespeare-Pellington Sydonnie, Grove Megan L., Bloom Kari, Pearson Deborah A., et al. , Neurotoxicity research, 2013 Jan, Volume 23, Issue 1, p.22-38, (2013) Abstract
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome., Bainbridge, Matthew N., Hu Hao, Muzny Donna M., Musante Luciana, Lupski James R., Graham Brett H., Chen Wei, Gripp Karen W., Jenny Kim, Wienker Thomas F., et al. , Genome medicine, 2013 Feb 5, Volume 5, Issue 2, p.11, (2013) Abstract
A functional variomics tool for discovering drug-resistance genes and drug targets., Huang, Zhiwei, Chen Kaifu, Zhang Jianhuai, Li Yongxiang, Wang Hui, Cui Dandan, Tang Jiangwu, Liu Yong, Shi Xiaomin, Li Wei, et al. , Cell reports, 2013 Feb 21, Volume 3, Issue 2, p.577-85, (2013) Abstract
Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies., Yu, Bing, Barbalic Maja, Brautbar Ariel, Nambi Vijay, Hoogeveen Ron C., Tang Weihong, Mosley Thomas H., Rotter Jerome I., deFilippi Christopher R., O'Donnell Christopher J., et al. , Circulation. Cardiovascular genetics, 2013 Feb, Volume 6, Issue 1, p.82-8, (2013) Abstract
Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes., Wang, Q. Y., Song J., Gibbs R. A., Boerwinkle E., Dong J. F., and Yu F. L. , Journal of thrombosis and haemostasis : JTH, 2013 Feb, Volume 11, Issue 2, p.261-9, (2013) Abstract
DANPOS: dynamic analysis of nucleosome position and occupancy by sequencing., Chen, Kaifu, Xi Yuanxin, Pan Xuewen, Li Zhaoyu, Kaestner Klaus, Tyler Jessica, Dent Sharon, He Xiangwei, and Li Wei , Genome research, 2013 Feb, Volume 23, Issue 2, p.341-51, (2013) Abstract
Dawn of ocular gene therapy: implications for molecular diagnosis in retinal disease., Zaneveld, Jacques, Wang Feng, Wang Xia, and Chen Rui , Science China. Life sciences, 2013 Feb, Volume 56, Issue 2, p.125-33, (2013) Abstract
Deep resequencing and association analysis of schizophrenia candidate genes., Crowley, J. J., Hilliard C. E., Kim Y., Morgan M. B., Lewis L. R., Muzny D. M., Hawes A. C., Sabo A., Wheeler D. A., Lieberman J. A., et al. , Molecular psychiatry, 2013 Feb, Volume 18, Issue 2, p.138-40, (2013)
Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome., Vatta, Matteo, Niu Zhiyv, Lupski James R., Putnam Philip, Spoonamore Katherine G., Fang Ping, Eng Christine M., and Willis Alecia S. , American journal of medical genetics. Part A, 2013 Dec, Volume 161A, Issue 12, p.3182-6, (2013) Abstract
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry., Hjeij, Rim, Lindstrand Anna, Francis Richard, Zariwala Maimoona A., Liu Xiaoqin, Li You, Damerla Rama, Dougherty Gerard W., Abouhamed Marouan, Olbrich Heike, et al. , American journal of human genetics, 2013 Aug 8, Volume 93, Issue 2, p.357-67, (2013) Abstract
TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities., Wiszniewski, Wojciech, Hunter Jill V., Hanchard Neil A., Willer Jason R., Shaw Chad, Tian Qi, Illner Anna, Wang Xueqing, Cheung Sau W., Patel Ankita, et al. , American journal of human genetics, 2013 Aug 8, Volume 93, Issue 2, p.197-210, (2013) Abstract
Associations between metabolomic compounds and incident heart failure among African Americans: the ARIC Study., Zheng, Yan, Yu Bing, Alexander Danny, Manolio Teri A., Aguilar David, Coresh Josef, Heiss Gerardo, Boerwinkle Eric, and Nettleton Jennifer A. , American journal of epidemiology, 2013 Aug 15, Volume 178, Issue 4, p.534-42, (2013) Abstract
Genome-Wide Association Study of a Heart Failure Related Metabolomic Profile Among African Americans in the Atherosclerosis Risk in Communities (ARIC) Study., Yu, Bing, Zheng Yan, Alexander Danny, Manolio Teri A., Alonso Alvaro, Nettleton Jennifer A., and Boerwinkle Eric , Genetic epidemiology, 2013 Aug 11, (2013) Abstract
Metabolomics and incident hypertension among blacks: the atherosclerosis risk in communities study., Zheng, Yan, Yu Bing, Alexander Danny, Mosley Thomas H., Heiss Gerardo, Nettleton Jennifer A., and Boerwinkle Eric , Hypertension, 2013 Aug, Volume 62, Issue 2, p.398-403, (2013) Abstract
Whole-genome sequence-based analysis of high-density lipoprotein cholesterol., Morrison, Alanna C., Voorman Arend, Johnson Andrew D., Liu Xiaoming, Yu Jin, Li Alexander, Muzny Donna, Yu Fuli, Rice Kenneth, Zhu Chengsong, et al. , Nature genetics, 2013 Aug, Volume 45, Issue 8, p.899-901, (2013) Abstract
Mutations in KCTD1 cause scalp-ear-nipple syndrome., Marneros, Alexander G., Beck Anita E., Turner Emily H., McMillin Margaret J., Edwards Matthew J., Field Michael, de Macena Sobreira Nara Lygia, Perez Ana Beatriz A., Fortes Jose A. R., Lampe Anne K., et al. , American journal of human genetics, 2013 Apr 4, Volume 92, Issue 4, p.621-6, (2013) Abstract
Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls., Liu, Li, Sabo Aniko, Neale Benjamin M., Nagaswamy Uma, Stevens Christine, Lim Elaine, Bodea Corneliu A., Muzny Donna, Reid Jeffrey G., Banks Eric, et al. , PLoS genetics, 2013 Apr, Volume 9, Issue 4, p.e1003443, (2013) Abstract
Identification of a response regulator involved in surface attachment, cell-cell aggregation, exopolysaccharide production and virulence in the plant pathogen Xylella fastidiosa., Voegel, Tanja M., Doddapaneni Harshavardhan, Cheng Davis W., Lin Hong, Stenger Drake C., Kirkpatrick Bruce C., and Roper Caroline M. , Molecular plant pathology, 2013 Apr, Volume 14, Issue 3, p.256-64, (2013) Abstract
PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features., Hamosh, Ada, Sobreira Nara, Hoover-Fong Julie, Sutton Reid V., Boehm Corinne, Schiettecatte François, and Valle David , Human mutation, 2013 Apr, Volume 34, Issue 4, p.566-71, (2013) Abstract
Best practices and joint calling of the HumanExome BeadChip: the CHARGE Consortium., Grove, Megan L., Yu Bing, Cochran Barbara J., Haritunians Talin, Bis Joshua C., Taylor Kent D., Hansen Mark, Borecki Ingrid B., Cupples Adrienne L., Fornage Myriam, et al. , PloS one, 2013, Volume 8, Issue 7, p.e68095, (2013) Abstract
Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology., Craigen, William J., Graham Brett H., Wong Lee-Jun, Scaglia Fernando, Lewis Richard Alan, and Bonnen Penelope E. , BMC medical genetics, 2013, Volume 14, p.83, (2013) Abstract
Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy, Lupski, James R., Gonzaga-Jauregui Claudia, Yang Yaping, Bainbridge Matthew N., Jhangiani Shalini, Buhay Christian J., Kovar Christie L., Wang Min, Hawes Alicia C., Reid Jeffrey G., et al. , Genome Medicine, 2013, Volume 5, Issue 6, p.57, (2013)


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