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Publications

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2016
Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors., Parsons, Williams D., Roy Angshumoy, Yang Yaping, Wang Tao, Scollon Sarah, Bergstrom Katie, Kerstein Robin A., Gutierrez Stephanie, Petersen Andrea K., Bavle Abhishek, et al. , JAMA oncology, 2016 Jan 28, (2016) Abstract
2015
Durable sequence stability and bone marrow tropism in a macaque model of human pegivirus infection., Bailey, Adam L., Lauck Michael, Mohns Mariel, Peterson Eric J., Beheler Kerry, Brunner Kevin G., Crosno Kristin, Mejia Andres, Mutschler James, Gehrke Matthew, et al. , Science translational medicine, 2015 Sep 16, Volume 7, Issue 305, p.305ra144, (2015) Abstract
dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Non-synonymous and Splice Site SNVs., Liu, Xiaoming, Wu Chunlei, Li Chang, and Boerwinkle Eric , Human mutation, 2015 Nov 10, (2015) Abstract
DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome., White, Janson, Mazzeu Juliana F., Hoischen Alexander, Jhangiani Shalini N., Gambin Tomasz, Alcino Michele Calijorne, Penney Samantha, Saraiva Jorge M., Hove Hanne, Skovby Flemming, et al. , American journal of human genetics, 2015 Mar 25, (2015) Abstract
Dnmt3a loss predisposes murine hematopoietic stem cells to malignant transformation., Mayle, Allison, Yang Liubin, Rodriguez Benjamin, Zhou Ting, Chang Edmund, Curry Choladda V., Challen Grant A., Li Wei, Wheeler David, Rebel Vivienne I., et al. , Blood, 2015 Jan 22, Volume 125, Issue 4, p.629-38, (2015) Abstract
The distribution and mutagenesis of short coding INDELs from 1,128 whole exomes., Challis, Danny, Antunes Lilian, Garrison Erik, Banks Eric, Evani Uday S., Muzny Donna, Poplin Ryan, Gibbs Richard A., Marth Gabor, and Yu Fuli , BMC genomics, 2015 Feb 28, Volume 16, Issue 1, p.143, (2015) Abstract
Do echinoderm genomes measure up?, Cameron, Andrew R., Kudtarkar Parul, Gordon Susan M., Worley Kim C., and Gibbs Richard A. , Marine genomics, 2015 Feb 17, (2015) Abstract
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome., Burrage, Lindsay C., Charng Wu-Lin, Eldomery Mohammad K., Willer Jason R., Davis Erica E., Lugtenberg Dorien, Zhu Wenmiao, Leduc Magalie S., Akdemir Zeynep C., Azamian Mahshid, et al. , American journal of human genetics, 2015 Dec 3, Volume 97, Issue 6, p.904-13, (2015) Abstract
DNA REPAIR. Mus81 and converging forks limit the mutagenicity of replication fork breakage., Mayle, Ryan, Campbell Ian M., Beck Christine R., Yu Yang, Wilson Marenda, Shaw Chad A., Bjergbaek Lotte, Lupski James R., and Ira Grzegorz , Science (New York, N.Y.), 2015 Aug 14, Volume 349, Issue 6249, p.742-7, (2015) Abstract
2014
A Drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases., Yamamoto, Shinya, Jaiswal Manish, Charng Wu-Lin, Gambin Tomasz, Karaca Ender, Mirzaa Ghayda, Wiszniewski Wojciech, Sandoval Hector, Haelterman Nele A., Xiong Bo, et al. , Cell, 2014 Sep 25, Volume 159, Issue 1, p.200-14, (2014) Abstract
De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea., Xia, Fan, Bainbridge Matthew N., Tan Tiong Yang, Wangler Michael F., Scheuerle Angela E., Zackai Elaine H., Harr Margaret H., Sutton Reid V., Nalam Roopa L., Zhu Wenmiao, et al. , American journal of human genetics, 2014 May 1, Volume 94, Issue 5, p.784-9, (2014) Abstract
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
Draft genome sequences and description of Lactobacillus rhamnosus strains L31, L34, and L35, Boonma, Prapaporn, Spinler Jennifer K., Qin Xiang, Jittaprasatsin Chutima, Muzny Donna M., Doddapaneni Harsha, Gibbs Richard, Petrosino Joe, Tumwasorn Somying, and Versalovic James , Standards in Genomic Sciences, 02/2014, Volume 9, Issue 3, p.744 - 754, (2014)
2013
dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations., Liu, Xiaoming, Jian Xueqiu, and Boerwinkle Eric , Human mutation, 2013 Sep, Volume 34, Issue 9, p.E2393-402, (2013) Abstract
Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles., Boone, Philip M., Campbell Ian M., Baggett Brett C., Soens Zachry T., Rao Mitchell M., Hixson Patricia M., Patel Ankita, Bi Weimin, Cheung Sau Wai, Lalani Seema R., et al. , Genome research, 2013 Sep, Volume 23, Issue 9, p.1383-94, (2013) Abstract
Detection of clinically relevant copy number variants with whole-exome sequencing., de Ligt, Joep, Boone Philip M., Pfundt Rolph, Vissers Lisenka E. L. M., Richmond Todd, Geoghegan Joel, O'Moore Kathleen, de Leeuw Nicole, Shaw Christine, Brunner Han G., et al. , Human mutation, 2013 Oct, Volume 34, Issue 10, p.1439-48, (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
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)
2012
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
The Drosophila melanogaster Genetic Reference Panel., Mackay, Trudy F. C., Richards Stephen, Stone Eric A., Barbadilla Antonio, Ayroles Julien F., Zhu Dianhui, Casillas Sònia, Han Yi, Magwire Michael M., Cridland Julie M., et al. , Nature, 2012 Feb 9, Volume 482, Issue 7384, p.173-8, (2012) Abstract
Deep sequencing of systematic combinatorial libraries reveals β-lactamase sequence constraints at high resolution., Deng, Zhifeng, Huang Wanzhi, Bakkalbasi Erol, Brown Nicholas G., Adamski Carolyn J., Rice Kacie, Muzny Donna, Gibbs Richard A., and Palzkill Timothy , Journal of molecular biology, 2012 Dec 7, Volume 424, Issue 3-4, p.150-67, (2012) Abstract
2011
Dicer-mediated upregulation of BCRP confers tamoxifen resistance in human breast cancer cells., Selever, Jennifer, Gu Guowei, Lewis Michael T., Beyer Amanda, Herynk Matthew H., Covington Kyle R., Tsimelzon Anna, Dontu Gabriela, Provost Patrick, Di Pietro Attilio, et al. , Clinical cancer research : an official journal of the American Association for Cancer Research, 2011 Oct 15, Volume 17, Issue 20, p.6510-21, (2011) Abstract


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