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Publications

2013
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)
In transition: primate genomics at a time of rapid change., Rogers, Jeffrey , ILAR journal / National Research Council, Institute of Laboratory Animal Resources, 2013, Volume 54, Issue 2, p.224-33, (2013) Abstract
Metagenomic analyses of alcohol induced pathogenic alterations in the intestinal microbiome and the effect of Lactobacillus rhamnosus GG treatment., Bull-Otterson, Lara, Feng Wenke, Kirpich Irina, Wang Yuhua, Qin Xiang, Liu Yanlong, Gobejishvili Leila, Joshi-Barve Swati, Ayvaz Tulin, Petrosino Joseph, et al. , PloS one, 2013, Volume 8, Issue 1, p.e53028, (2013) Abstract
Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype., Perrault, Isabelle, Estrada-Cuzcano Alejandro, Lopez Irma, Kohl Susanne, Li Shiqiang, Testa Francesco, Zekveld-Vroon Renate, Wang Xia, Pomares Esther, Andorf Jean, et al. , PloS one, 2013, Volume 8, Issue 1, p.e51622, (2013) Abstract
Genome-wide analysis of stepwise hepatocarcinogenesis using next generation sequencer, Midorikawa, Yutaka, Yamamoto Shogo, Ueda Hiroki, Sonoda Kotaro, Tsuji Shingo, Tatsuno Kenji, Shibata Tatsuhiro, Covington Kyle, Wheeler David A., Takayama Tadatoshi, et al. , HEPATOLOGY, Volume 58, p.396A–396A, (2013)
Polymerase epsilon (POLE) mutations and mutator phenotypes in colorectal and endometrial tumors., Shinbrot, Eve, Weinhold Nils, Schultz Nikolaus, Donehower Lawrence A., Drummond Jennifer, Chang Kyle, Gibbs Richard, Sander Chris, and Wheeler David A. , CANCER RESEARCH, Volume 73, Number 8, (2013)
Whole Exome Sequencing and Analysis Of Mutations In Sézary Syndrome, Xi, Lui, Ni Xiao, Koshelev Misha, Drummond Jennifer, Muzny Donna M., Zhang Xiang, and Duvic Madeleine , Blood, Volume 122, Number 21, p.2558–2558, (2013)
2012
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration, Koenekoop, Robert K., Wang Hui, Majewski Jacek, Wang Xia, Lopez Irma, Ren Huanan, Chen Yiyun, Li Yumei, Fishman Gerald A., Genead Mohammed, et al. , Nature Genetics, 7/2012, Volume 44, Issue 9, p.1035 - 1039, (2012)
Epistasis dominates the genetic architecture of Drosophila quantitative traits., Huang, Wen, Richards Stephen, Carbone Mary Anna, Zhu Dianhui, Anholt Robert R. H., Ayroles Julien F., Duncan Laura, Jordan Katherine W., Lawrence Faye, Magwire Michael M., et al. , Proceedings of the National Academy of Sciences of the United States of America, 2012 Sep 25, Volume 109, Issue 39, p.15553-9, (2012) Abstract
The role of drinking water sources, consumption of vegetables and seafood in relation to blood arsenic concentrations of Jamaican children with and without Autism Spectrum Disorders., Rahbar, Mohammad H., Samms-Vaughan Maureen, Ardjomand-Hessabi Manouchehr, Loveland Katherine A., Dickerson Aisha S., Chen Zhongxue, Bressler Jan, Shakespeare-Pellington Sydonnie, Grove Megan L., Bloom Kari, et al. , The Science of the total environment, 2012 Sep 1, Volume 433, p.362-70, (2012) Abstract
Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model., McIntyre, Jeremy C., Davis Erica E., Joiner Ariell, Williams Corey L., Tsai I-Chun, Jenkins Paul M., McEwen Dyke P., Zhang Lian, Escobado John, Thomas Sophie, et al. , Nature medicine, 2012 Sep, Volume 18, Issue 9, p.1423-8, (2012) Abstract
Maternal and paternal age are jointly associated with childhood autism in Jamaica., Rahbar, Mohammad H., Samms-Vaughan Maureen, Loveland Katherine A., Pearson Deborah A., Bressler Jan, Chen Zhongxue, Ardjomand-Hessabi Manouchehr, Shakespeare-Pellington Sydonnie, Grove Megan L., Beecher Compton, et al. , Journal of autism and developmental disorders, 2012 Sep, Volume 42, Issue 9, p.1928-38, (2012) Abstract
Quantitative trait loci affecting liver fat content in mice., Minkina, Olga, Cheverud James M., Fawcett Gloria, Semenkovich Clay F., and Kenney-Hunt Jane P. , G3 (Bethesda, Md.), 2012 Sep, Volume 2, Issue 9, p.1019-25, (2012) Abstract
Direct regulation of GTP homeostasis by (p)ppGpp: a critical component of viability and stress resistance., Kriel, Allison, Bittner Alycia N., Kim Sok Ho, Liu Kuanqing, Tehranchi Ashley K., Zou Winnie Y., Rendon Samantha, Chen Rui, Tu Benjamin P., and Wang Jue D. , Molecular cell, 2012 Oct 26, Volume 48, Issue 2, p.231-41, (2012) Abstract
Genome sequence of the button mushroom Agaricus bisporus reveals mechanisms governing adaptation to a humic-rich ecological niche., Morin, Emmanuelle, Kohler Annegret, Baker Adam R., Foulongne-Oriol Marie, Lombard Vincent, Nagy Laszlo G., Ohm Robin A., Patyshakuliyeva Aleksandrina, Brun Annick, Aerts Andrea L., et al. , Proceedings of the National Academy of Sciences of the United States of America, 2012 Oct 23, Volume 109, Issue 43, p.17501-6, (2012) Abstract
Brain copy number variants and neuropsychiatric traits., Lupski, James R. , Biological psychiatry, 2012 Oct 15, Volume 72, Issue 8, p.617-9, (2012)
Complete genome sequence of Treponema pallidum strain DAL-1., Zobaníková, Marie, Mikolka Pavol, Cejková Darina, Pospíšilová Petra, Chen Lei, Strouhal Michal, Qin Xiang, Weinstock George M., and Smajs David , Standards in genomic sciences, 2012 Oct 10, Volume 7, Issue 1, p.12-21, (2012) Abstract
Identification of a single-stranded DNA virus associated with citrus chlorotic dwarf disease, a new member in the family Geminiviridae., Loconsole, Giuliana, Saldarelli Pasquale, Doddapaneni Harshavardhan, Savino Vito, Martelli Giovanni P., and Saponari Maria , Virology, 2012 Oct 10, Volume 432, Issue 1, p.162-72, (2012) Abstract
Gene structure in the sea urchin Strongylocentrotus purpuratus based on transcriptome analysis., Tu, Qiang, Cameron Andrew R., Worley Kim C., Gibbs Richard A., and Davidson Eric H. , Genome research, 2012 Oct, Volume 22, Issue 10, p.2079-87, (2012) Abstract


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