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Publications

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2013
Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional., Green, Robert C., Lupski James R., and Biesecker Leslie G. , JAMA : the journal of the American Medical Association, 2013 Jul 24, Volume 310, Issue 4, p.365-6, (2013)
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
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
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
Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D., Okamoto, Yuji, Goksungur Meryem Tuba, Pehlivan Davut, Beck Christine R., Gonzaga-Jauregui Claudia, Muzny Donna M., Atik Mehmed M., Carvalho Claudia M. B., Matur Zeliha, Bayraktar Serife, et al. , Genetics in medicine : official journal of the American College of Medical Genetics, 2013 Oct 17, (2013) Abstract
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
2015
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
Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions., Zaneveld, Jacques, Siddiqui Sorath, Li Huajin, Wang Xia, Wang Hui, Wang Keqing, Li Hui, Ren Huanan, Lopez Irma, Dorfman Allison, et al. , Genetics in medicine : official journal of the American College of Medical Genetics, 2015 Apr, Volume 17, Issue 4, p.262-70, (2015) Abstract
2014
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
2012
Comprehensive molecular characterization of human colon and rectal cancer., Shinbrot, Eve , Nature, 2012 Jul 19, Volume 487, Issue 7407, p.330-7, (2012) Abstract
2013
Integrated genomic characterization of endometrial carcinoma., Kandoth, Cyriac, Schultz Nikolaus, Cherniack Andrew D., Akbani Rehan, Liu Yuexin, Shen Hui, Robertson Gordon A., Pashtan Itai, Shen Ronglai, Benz Christopher C., et al. , Nature, 2013 May 2, Volume 497, Issue 7447, p.67-73, (2013) Abstract
1994
Expression of the platelet-derived growth factor beta receptor during organogenesis and tissue differentiation in the mouse embryo., Shinbrot, E., Peters K. G., and Williams L. T. , Developmental dynamics : an official publication of the American Association of Anatomists, 1994 Mar, Volume 199, Issue 3, p.169-75, (1994) Abstract
1993
Multiple cDNA sequences of bovine tracheal lysozyme., Takeuchi, K., Irwin D. M., Gallup M., Shinbrot E., Kai H., Stewart C. B., and Basbaum C. , The Journal of biological chemistry, 1993 Dec 25, Volume 268, Issue 36, p.27440-6, (1993) Abstract
2013
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
1997
Isolation and characterization of the platelet-derived growth factor beta receptor promoter., Shinbrot, E., Liao X., and Williams L. T. , Developmental dynamics : an official publication of the American Association of Anatomists, 1997 Feb, Volume 208, Issue 2, p.211-9, (1997) Abstract
1999
Morphological detection of plasma membrane changes during apoptosis using enhanced green fluorescent protein., Shinbrot, E., Spencer C. M., and Kain S. R. , BioTechniques, 1999 Jun, Volume 26, Issue 6, p.1064-6, 1068, (1999)
2014
Effects of TP53 mutational status on gene expression patterns across 10 human cancer types., Parikh, Neha, Hilsenbeck Susan, Creighton Chad J., Dayaram Tajhal, Shuck Ryan, Shinbrot Eve, Xi Liu, Gibbs Richard A., Wheeler David A., and Donehower Lawrence A. , The Journal of pathology, 2014 Apr, Volume 232, Issue 5, p.522-33, (2014) Abstract
2000
Section V. Application of Chimeras in Monitoring and Manipulating Cell Physiology-37 Use of Fusions to Green Fluorescent Protein in the Detection of Apoptosis, Shinbrot, Eve, Spencer Collin, Natale Valerie, and Kain Steven R. , Methods in Enzymology, Volume 327, p.513–521, (2000)
Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10., Matsuura, T., Yamagata T., Burgess D. L., Rasmussen A., Grewal R. P., Watase K., Khajavi M., McCall A. E., Davis Caleb F., Zu L., et al. , Nature genetics, 2000 Oct, Volume 26, Issue 2, p.191-4, (2000) Abstract
2003
Genetic disruption of cortical interneuron development causes region- and GABA cell type-specific deficits, epilepsy, and behavioral dysfunction., Powell, Elizabeth M., Campbell Daniel B., Stanwood Gregg D., Davis Caleb F., Noebels Jeffrey L., and Levitt Pat , The Journal of neuroscience : the official journal of the Society for Neuroscience, 2003 Jan 15, Volume 23, Issue 2, p.622-31, (2003) Abstract
2013
1999
Identification of three novel Ca(2+) channel gamma subunit genes reveals molecular diversification by tandem and chromosome duplication., Burgess, D. L., Davis Caleb F., Gefrides L. A., and Noebels J. L. , Genome research, 1999 Dec, Volume 9, Issue 12, p.1204-13, (1999) Abstract
2006
Stargazin and other transmembrane AMPA receptor regulating proteins interact with synaptic scaffolding protein MAGI-2 in brain., Deng, Fang, Price Maureen G., Davis Caleb F., Mori Mayra, and Burgess Daniel L. , The Journal of neuroscience : the official journal of the Society for Neuroscience, 2006 Jul 26, Volume 26, Issue 30, p.7875-84, (2006) Abstract
2005
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
2013
The Cancer Genome Atlas Pan-Cancer analysis project., Weinstein, John N., Collisson Eric A., Mills Gordon B., Shaw Kenna Mills R., Ozenberger Brad A., Ellrott Kyle, Shmulevich Ilya, Sander Chris, and Stuart Joshua M. , Nature genetics, 2013 Oct, Volume 45, Issue 10, p.1113-20, (2013) Abstract


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