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Donna Muzny, M.S.

Instructor, Department of Molecular and Human Genetics

Contact Information

donnam@bcm.edu

Publications

The First Myriapod Genome Sequence Reveals Conservative Arthropod Gene Content and Genome Organisation in the Centipede Strigamia maritima., Chipman, Ariel D., Ferrier David E. K., Brena Carlo, Qu Jiaxin, Hughes Daniel S. T., Schröder Reinhard, Torres-Oliva Montserrat, Znassi Nadia, Jiang Huaiyang, Almeida Francisca C., et al. , PLoS biology, 2014 Nov, Volume 12, Issue 11, p.e1002005, (2014) Abstract
Tissue-specific transcriptome sequencing analysis expands the non-human primate reference transcriptome resource (NHPRTR)., Peng, Xinxia, Thierry-Mieg Jean, Thierry-Mieg Danielle, Nishida Andrew, Pipes Lenore, Bozinoski Marjan, Thomas Matthew J., Kelly Sara, Weiss Jeffrey M., Raveendran Muthuswamy, et al. , Nucleic acids research, 2014 Nov 11, (2014) Abstract
Mutational landscape of aggressive cutaneous squamous cell carcinoma., Pickering, Curtis R., Zhou Jane H., Lee Jack J., Drummond Jennifer A., Peng Andrew S., Saade Rami E., Tsai Kenneth Y., Curry Jonathan, Tetzlaff Michael T., Lai Stephen Y., et al. , Clinical cancer research : an official journal of the American Association for Cancer Research, 2014 Oct 10, (2014) Abstract
Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing., Yang, Yaping, Muzny Donna M., Xia Fan, Niu Zhiyv, Person Richard, Ding Yan, Ward Patricia, Braxton Alicia, Wang Min, Buhay Christian, et al. , JAMA, 2014 Oct 18, (2014) Abstract
New Mutations in the RAB28 Gene in 2 Spanish Families With Cone-Rod Dystrophy., Riveiro-Álvarez, Rosa, Xie Yajing Angela, López-Martínez Miguel-Ángel, Gambin Tomasz, Pérez-Carro Raquel, Avila-Fernández Almudena, López-Molina María-Isabel, Zernant Jana, Jhangiani Shalini, Muzny Donna, et al. , JAMA ophthalmology, 2014 Oct 30, (2014) Abstract
BCOR-CCNB3 fusions are frequent in undifferentiated sarcomas of male children., Peters, Tricia L., Kumar Vijetha, Polikepahad Sumanth, Lin Frank Y., Sarabia Stephen F., Liang Yu, Wang Wei-Lien, Lazar Alexander J., Doddapaneni Harshavardhan, Chao Hsu, et al. , Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2014 Oct 31, (2014) Abstract
Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome., Bayram, Yavuz, Pehlivan Davut, Karaca Ender, Gambin Tomasz, Jhangiani Shalini N., Erdin Serkan, Gonzaga-Jauregui Claudia, Wiszniewski Wojciech, Muzny Donna, Elcioglu Nursel H., et al. , American journal of medical genetics. Part A, 2014 Sep, Volume 164A, Issue 9, p.2328-34, (2014) Abstract
Gibbon genome and the fast karyotype evolution of small apes., Carbone, Lucia, Harris Alan R., Gnerre Sante, Veeramah Krishna R., Lorente-Galdos Belen, Huddleston John, Meyer Thomas J., Herrero Javier, Roos Christian, Aken Bronwen, et al. , Nature, 2014 Sep 11, Volume 513, Issue 7517, p.195-201, (2014) Abstract
Exonuclease mutations In DNA Polymerase Epsilon reveal replication strand specific mutation patterns and human origins of replication., Shinbrot, Eve, Henninger Erin E., Weinhold Nils, Covington Kyle R., Göksenin Yasemin A., Schultz Nikolaus, Chao Hsu, Doddapaneni Harshavardhan, Muzny Donna M., Gibbs Richard A., et al. , Genome research, 2014 Sep 16, (2014) Abstract
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
The Somatic Genomic Landscape of Chromophobe Renal Cell Carcinoma., Davis, Caleb F., Ricketts Christopher J., Wang Min, Yang Lixing, Cherniack Andrew D., Shen Hui, Buhay Christian, Kang Hyojin, Kim Sang Cheol, Fahey Catherine C., et al. , Cancer cell, 2014 Sep 8, Volume 26, Issue 3, p.319-330, (2014) Abstract
Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis., Chakraborty, Rikhia, Hampton Oliver A., Shen Xiaoyun, Simko Stephen, Shih Albert, Abhyankar Harshal, Lim Karen Phaik Har, Covington Kyle, Trevino Lisa, Dewal Ninad, et al. , Blood, 2014 Sep 8, (2014) Abstract
Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Wangler, Michael F., Gonzaga-Jauregui Claudia, Gambin Tomasz, Penney Samantha, Moss Timothy, Chopra Atul, Probst Frank J., Xia Fan, Yang Yaping, Werlin Steven, et al. , PLoS Genetics, 3/2014, Volume 10, Issue 3, p.e1004258, (2014)
Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators, Bellott, Daniel W., Hughes Jennifer F., Skaletsky Helen, Brown Laura G., Pyntikova Tatyana, Cho Ting-Jan, Koutseva Natalia, Zaghlul Sara, Graves Tina, Rock Susie, et al. , Nature, 4/2014, Volume 508, Issue 7497, p.494 - 499, (2014)
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)
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)
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
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
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)
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
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
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders., Lim, Elaine T., Raychaudhuri Soumya, Sanders Stephan J., Stevens Christine, Sabo Aniko, MacArthur Daniel G., Neale Benjamin M., Kirby Andrew, Ruderfer Douglas M., Fromer Menachem, et al. , Neuron, 2013 Jan 23, Volume 77, Issue 2, p.235-42, (2013) Abstract
Combined sequence-based and genetic mapping analysis of complex traits in outbred rats., Baud, Amelie, Hermsen Roel, Guryev Victor, Stridh Pernilla, Graham Delyth, McBride Martin W., Foroud Tatiana, Calderari Sophie, Diez Margarita, Ockinger Johan, et al. , Nature genetics, 2013 Jul, Volume 45, Issue 7, p.767-75, (2013) Abstract
Integrative genomic characterization of oral squamous cell carcinoma identifies frequent somatic drivers., Pickering, Curtis R., Zhang Jiexin, Yoo Suk Young, Bengtsson Linnea, Moorthy Shhyam, Neskey David M., Zhao Mei, Ortega Alves Marcus V., Chang Kyle, Drummond Jennifer, et al. , Cancer discovery, 2013 Jul, Volume 3, Issue 7, p.770-81, (2013) Abstract
CRHR1 genotypes, neural circuits and the diathesis for anxiety and depression., Rogers, J., Raveendran M., Fawcett G. L., Fox A. S., Shelton S. E., Oler J. A., Cheverud J., Muzny D. M., Gibbs R. A., Davidson R. J., et al. , Molecular psychiatry, 2013 Jun, Volume 18, Issue 6, p.700-7, (2013) Abstract


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