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Donna Muzny, M.S.

Instructor, Department of Molecular and Human Genetics

Contact Information

donnam@bcm.edu

Publications

The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy., Pehlivan, Davut, Beck Christine R., Okamoto Yuji, Harel Tamar, Akdemir Zeynep H. C., Jhangiani Shalini N., Withers Marjorie A., Goksungur Meryem Tuba, Carvalho Claudia M. B., Czesnik Dirk, et al. , Genetics in medicine : official journal of the American College of Medical Genetics, 2015 Sep 17, (2015) Abstract
New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11, Xie, Y., Lee W., Cai C., Gambin T., Noupuu K., Sujirakul T., Ayuso C., Jhangiani S., Muzny D., Boerwinkle E., et al. , Human Molecular Genetics, (2014)
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)
Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome, Lindstrand, Anna, Davis Erica E., Carvalho Claudia M.B., Pehlivan Davut, Willer Jason R., Tsai I-Chun, Ramanathan Subhadra, Zuppan Craig, Sabo Aniko, Muzny Donna, et al. , The American Journal of Human Genetics, 05/2014, Volume 94, Issue 5, p.745 - 754, (2014)
Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel lines, Huang, W., Massouras A., Inoue Y., Peiffer J., Ramia M., Tarone A. M., Turlapati L., Zichner T., Zhu D., Lyman R. F., et al. , Genome Research, 07/2014, Volume 24, Issue 7, p.1193 - 1208, (2014)
Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population, Gonzaga-Jauregui, Claudia, Gamble Candace N., Yuan Bo, Penney Samantha, Jhangiani Shalini, Muzny Donna M., Gibbs Richard A., Lupski James R., and Hecht Jacqueline T. , European Journal of Human Genetics, 07/2014, (2014)
Next-generation sequencing identifies rare variants associated with Noonan syndrome, Chen, P. - C., Yin J., Yu H. - W., Yuan T., Fernandez M., Yung C. K., Trinh Q. M., Peltekova V. D., Reid J. G., Tworog-Dube E., et al. , Proceedings of the National Academy of Sciences, 08/2014, Volume 111, Issue 31, p.11473 - 11478, (2014)
Trans-ancestry mutational landscape of hepatocellular carcinoma genomes, Totoki, Yasushi, Tatsuno Kenji, Covington Kyle R., Ueda Hiroki, Creighton Chad J., Kato Mamoru, Tsuji Shingo, Donehower Lawrence A., Slagle Betty L., Nakamura Hiromi, et al. , Nature Genetics, 11/2014, (2014)
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, 11/2014, Volume 312, Issue 18, p.1870, (2014)
Sequence Analysis of Six Blood Pressure Candidate Regions in 4,178 Individuals: The Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study., Morrison, Alanna C., Bis Joshua C., Hwang Shih-Jen, Ehret Georg B., Lumley Thomas, Rice Kenneth, Muzny Donna, Gibbs Richard A., Boerwinkle Eric, Psaty Bruce M., et al. , PloS one, 2014, Volume 9, Issue 10, p.e109155, (2014) Abstract
Sequence Analysis of Six Blood Pressure Candidate Regions in 4,178 Individuals: The Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study., Morrison, Alanna C., Bis Joshua C., Hwang Shih-Jen, Ehret Georg B., Lumley Thomas, Rice Kenneth, Muzny Donna, Gibbs Richard A., Boerwinkle Eric, Psaty Bruce M., et al. , PloS one, 2014, Volume 9, Issue 10, p.e109155, (2014) Abstract
Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia., Sheehan, Vivien A., Crosby Jacy R., Sabo Aniko, Mortier Nicole A., Howard Thad A., Muzny Donna M., Dugan-Perez Shannon, Aygun Banu, Nottage Kerri A., Boerwinkle Eric, et al. , PloS one, 2014, Volume 9, Issue 10, p.e110740, (2014) Abstract
Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline., Reid, Jeffrey G., Carroll Andrew, Veeraraghavan Narayanan, Dahdouli Mahmoud, Sundquist Andreas, English Adam, Bainbridge Matthew, White Simon, Salerno William, Buhay Christian, et al. , BMC bioinformatics, 2014, Volume 15, p.30, (2014) Abstract
The relationship of JAK2(V617F) and acquired UPD at chromosome 9p in polycythemia vera., Wang, L., Swierczek S. I., Lanikova L., Kim Sj, Hickman K., Walker K., Wang K., Drummond J., Doddapaneni H., Reid J. G., et al. , Leukemia, 2014 Apr, Volume 28, Issue 4, p.938-41, (2014)
Whole-exome sequencing of polycythemia vera revealed novel driver genes and somatic mutation shared by T cells and granulocytes., Wang, L., Swierczek S. I., Drummond J., Hickman K., Kim Sj, Walker K., Doddapaneni H., Muzny D. M., Gibbs R. A., Wheeler D. A., et al. , Leukemia, 2014 Apr, Volume 28, Issue 4, p.935-8, (2014)
Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function., Karaca, Ender, Weitzer Stefan, Pehlivan Davut, Shiraishi Hiroshi, Gogakos Tasos, Hanada Toshikatsu, Jhangiani Shalini N., Wiszniewski Wojciech, Withers Marjorie, Campbell Ian M., et al. , Cell, 2014 Apr 24, Volume 157, Issue 3, p.636-50, (2014) Abstract
NR2F1 mutations cause optic atrophy with intellectual disability., Bosch, Daniëlle G. M., Boonstra Nienke F., Gonzaga-Jauregui Claudia, Xu Mafei, de Ligt Joep, Jhangiani Shalini, Wiszniewski Wojciech, Muzny Donna M., Yntema Helger G., Pfundt Rolph, et al. , American journal of human genetics, 2014 Feb 6, Volume 94, Issue 2, p.303-9, (2014) Abstract
Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia., Pehlivan, Davut, Karaca Ender, Aydin Hatip, Beck Christine R., Gambin Tomasz, Muzny Donna M., Bilge Geckinli B., Karaman Ali, Jhangiani Shalini N., Gibbs Richard A., et al. , European journal of human genetics : EJHG, 2014 Jan 15, (2014) Abstract
Comparative validation of the D. melanogaster modENCODE transcriptome annotation., Chen, Zhen-Xia, Sturgill David, Qu Jiaxin, Jiang Huaiyang, Park Soo, Boley Nathan, Suzuki Ana Maria, Fletcher Anthony R., Plachetzki David C., FitzGerald Peter C., et al. , Genome research, 2014 Jul, Volume 24, Issue 7, p.1209-23, (2014) Abstract
Novel somatic and germline mutations in intracranial germ cell tumours., Wang, Linghua, Yamaguchi Shigeru, Burstein Matthew D., Terashima Keita, Chang Kyle, Ng Ho-Keung, Nakamura Hideo, He Zongxiao, Doddapaneni Harshavardhan, Lewis Lora, et al. , Nature, 2014 Jun 4, (2014) Abstract
The sheep genome illuminates biology of the rumen and lipid metabolism., Jiang, Yu, Xie Min, Chen Wenbin, Talbot Richard, Maddox Jillian F., Faraut Thomas, Wu Chunhua, Muzny Donna M., Li Yuxiang, Zhang Wenguang, et al. , Science (New York, N.Y.), 2014 Jun 6, Volume 344, Issue 6188, p.1168-73, (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, 2014 Mar, Volume 10, Issue 3, p.e1004258, (2014) Abstract
Targeted sequencing in candidate genes for atrial fibrillation: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study., Lin, Honghuang, Sinner Moritz F., Brody Jennifer A., Arking Dan E., Lunetta Kathryn L., Rienstra Michiel, Lubitz Steven A., Magnani Jared W., Sotoodehnia Nona, McKnight Barbara, et al. , Heart rhythm : the official journal of the Heart Rhythm Society, 2014 Mar, Volume 11, Issue 3, p.452-7, (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
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


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