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Publications

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Conference Paper
Whole Exome Sequencing of Polycythemia Vera Reveals Novel Recurrent Somatic and Germline Variation, Wang, Linghua, Swierczek Sabina, Piterkova Lucie, Hickman Kimberly, Wheeler David A., and Prchal Josef T. , Blood, Volume 120, Number 21, (2012)
Journal Article
The 1000 Genomes Project: data management and community access., Clarke, Laura, Zheng-Bradley Xiangqun, Smith Richard, Kulesha Eugene, Xiao Chunlin, Toneva Iliana, Vaughan Brendan, Preuss Don, Leinonen Rasko, Shumway Martin, et al. , Nature methods, 2012 May, Volume 9, Issue 5, p.459-62, (2012) Abstract
130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus., Timms, K. M., Lu F., Shen Y., Pierson C. A., Muzny D. M., Gu Y., Nelson D. L., and Gibbs R. A. , Genome research, 1995 Aug, Volume 5, Issue 1, p.71-8, (1995) Abstract
16S gut community of the Cameron County Hispanic Cohort., Ross, Matthew C., Muzny Donna M., McCormick Joseph B., Gibbs Richard A., Fisher-Hoch Susan P., and Petrosino Joseph F. , Microbiome, 2015, Volume 3, p.7, (2015) Abstract
28-way vertebrate alignment and conservation track in the UCSC Genome Browser., Miller, Webb, Rosenbloom Kate, Hardison Ross C., Hou Minmei, Taylor James, Raney Brian, Burhans Richard, King David C., Baertsch Robert, Blankenberg Daniel, et al. , Genome research, 2007 Dec, Volume 17, Issue 12, p.1797-808, (2007) Abstract
The 8q24 cancer risk variant rs6983267 shows long-range interaction with MYC in colorectal cancer., Pomerantz, Mark M., Ahmadiyeh Nasim, Jia Li, Herman Paula, Verzi Michael P., Doddapaneni Harshavardhan, Beckwith Christine A., Chan Jennifer A., Hills Adam, Davis Matt, et al. , Nature genetics, 2009 Aug, Volume 41, Issue 8, p.882-4, (2009) Abstract
A-beta-subtype of ketosis-prone diabetes is not predominantly a monogenic diabetic syndrome., Haaland, Wade C., Scaduto Diane I., Maldonado Mario R., Mansouri Dena L., Nalini Ramaswami, Iyer Dinakar, Patel Sanjeet, Guthikonda Anu, Hampe Christiane S., Balasubramanyam Ashok, et al. , Diabetes care, 2009 May, Volume 32, Issue 5, p.873-7, (2009) Abstract
Aberrant TGF-beta production and regulation in metastatic malignancy., Schwarz, L. C., Wright J. A., Gingras M. C., Kondaiah P., Danielpour D., Pimentel M., Sporn M. B., and Greenberg A. H. , Growth factors (Chur, Switzerland), 1990, Volume 3, Issue 2, p.115-27, (1990) Abstract
Acquired uniparental disomy of chromosome 9p in hematological malignancies., Wang, Linghua, Wheeler David A., and Prchal Josef T. , Experimental hematology, 2015 Nov 29, (2015) Abstract
Activation of multiple proto-oncogenic tyrosine kinases in breast cancer via loss of the PTPN12 phosphatase., Sun, Tingting, Aceto Nicola, Meerbrey Kristen L., Kessler Jessica D., Zhou Chunshui, Migliaccio Ilenia, Nguyen Don X., Pavlova Natalya N., Botero Maria, Huang Jian, et al. , Cell, 2011 Mar 4, Volume 144, Issue 5, p.703-18, (2011) Abstract
Adaptor-based uracil DNA glycosylase cloning simplifies shotgun library construction for large-scale sequencing., Andersson, B., Povinelli C. M., Wentland M. A., Shen Y., Muzny D. M., and Gibbs R. A. , Analytical biochemistry, 1994 May 1, Volume 218, Issue 2, p.300-8, (1994) Abstract
Adult presentation of X-linked Conradi-Hünermann-Happle syndrome., Posey, Jennifer E., Burrage Lindsay C., Campeau Philippe M., Lu James T., Eble Tanya N., Kratz Lisa, Schlesinger Alan E., Gibbs Richard A., Lee Brendan H., and Nagamani Sandesh C. S. , American journal of medical genetics. Part A, 2015 Apr 2, (2015) Abstract
Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome., Naves, Luciana A., Daly Adrian F., Dias Luiz Augusto, Yuan Bo, Zakir Juliano Coelho Oliveira, Barra Gustavo Barcellos, Palmeira Leonor, Villa Chiara, Trivellin Giampaolo, Júnior Armindo Jreige, et al. , Endocrine, 2015 Nov 25, (2015) Abstract
Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2., Zazo Seco, Celia, Serrão de Castro Luciana, van Nierop Josephine W., Morín Matías, Jhangiani Shalini, Verver Eva J. J., Schraders Margit, Maiwald Nadine, Wesdorp Mieke, Venselaar Hanka, et al. , American journal of human genetics, 2015 Nov 5, Volume 97, Issue 5, p.647-60, (2015) Abstract
The alpha-amino-3-hydroxyl-5-methyl-4-isoxazolepropionate receptor trafficking regulator "stargazin" is related to the claudin family of proteins by Its ability to mediate cell-cell adhesion., Price, Maureen G., Davis Caleb F., Deng Fang, and Burgess Daniel L. , The Journal of biological chemistry, 2005 May 20, Volume 280, Issue 20, p.19711-20, (2005) Abstract
Altered neuronal network and rescue in a human MECP2 duplication model., Nageshappa, S., Carromeu C., Trujillo C. A., Mesci P., Espuny-Camacho I., Pasciuto E., Vanderhaeghen P., Verfaillie C. M., Raitano S., Kumar A., et al. , Molecular psychiatry, 2015 Sep 8, (2015) Abstract
Alu-primed polymerase chain reaction for regional assignment of 110 yeast artificial chromosome clones from the human X chromosome: identification of clones associated with a disease locus., Nelson, D. L., Ballabio A., Victoria M. F., Pieretti M., Bies R. D., Gibbs R. A., Maley J. A., Chinault A. C., Webster T. D., and Caskey C. T. , Proceedings of the National Academy of Sciences of the United States of America, 1991 Jul 15, Volume 88, Issue 14, p.6157-61, (1991) Abstract
Ampullary Cancers Harbor the Tumor Suppressor Gene ELF3 and Exhibit Frequent WNT Dysregulation., Gingras, Marie-Claude, Covington Kyle R., Chang David K., Donehower Lawrence A., Gill Anthony J., Ittmann Michael M., Creighton Chad J., Johns Amber L., Shinbrot Eve, Dewal Ninad, et al. , Cell reports, 2016 Jan 19, (2016) Abstract
Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome., Margulies, Elliott H., Cooper Gregory M., Asimenos George, Thomas Daryl J., Dewey Colin N., Siepel Adam, Birney Ewan, Keefe Damian, Schwartz Ariel S., Hou Minmei, et al. , Genome research, 2007 Jun, Volume 17, Issue 6, p.760-74, (2007) Abstract
Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease., Li, Alexander H., Morrison Alanna C., Kovar Christie, Cupples Adrienne L., Brody Jennifer A., Polfus Linda M., Yu Bing, Metcalf Ginger, Muzny Donna, Veeraraghavan Narayanan, et al. , Nature genetics, 2015 Apr 27, (2015) 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
Analysis of transcriptome data in the red flour beetle, Tribolium castaneum., Park, Yoonseong, Aikins Jamie, Wang L. J., Beeman Richard W., Oppert Brenda, Lord Jeffrey C., Brown Susan J., Lorenzen Marcé D., Richards Stephen, Weinstock George M., et al. , Insect biochemistry and molecular biology, 2008 Apr, Volume 38, Issue 4, p.380-6, (2008) Abstract
Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes., Appadurai, Vivek, DeBarber Andrea, Chiang Pei-Wen, Patel Shailendra B., Steiner Robert D., Tyler Charles, and Bonnen Penelope E. , Molecular genetics and metabolism, 2015 Oct 26, (2015) Abstract
Are extended biopsies really necessary to improve prostate cancer detection?, Damiano, R., Autorino R., Perdonà S., De Sio M., Oliva A., Esposito C., Cantiello F., Di Lorenzo G., Sacco R., and D'Armiento M. , Prostate cancer and prostatic diseases, 2003, Volume 6, Issue 3, p.250-5, (2003) 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


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