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Donna Muzny, M.S.

Instructor, Department of Molecular and Human Genetics

Contact Information

donnam@bcm.edu

Publications

POGZ truncating alleles cause syndromic intellectual disability., White, Janson, Beck Christine R., Harel Tamar, Posey Jennifer E., Jhangiani Shalini N., Tang Sha, Farwell Kelly D., Powis Zöe, Mendelsohn Nancy J., Baker Janice A., et al. , Genome medicine, 2016, Volume 8, Issue 1, p.3, (2016) Abstract
Unique features of a global human ectoparasite identified through sequencing of the bed bug genome., Benoit, Joshua B., Adelman Zach N., Reinhardt Klaus, Dolan Amanda, Poelchau Monica, Jennings Emily C., Szuter Elise M., Hagan Richard W., Gujar Hemant, Shukla Jayendra Nath, et al. , Nature communications, 2016, Volume 7, p.10165, (2016) Abstract
An open access pilot freely sharing cancer genomic data from participants in Texas., Becnel, Lauren B., Pereira Stacey, Drummond Jennifer A., Gingras Marie-Claude, Covington Kyle R., Kovar Christie L., Doddapaneni Harshavardhan, Hu Jianhong, Muzny Donna, McGuire Amy L., et al. , Scientific data, 2016, Volume 3, p.160010, (2016) Abstract
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis., Gomez-Ospina, Natalia, Potter Carol J., Xiao Rui, Manickam Kandamurugu, Kim Mi-Sun, Kim Kang Ho, Shneider Benjamin L., Picarsic Jennifer L., Jacobson Theodora A., Zhang Jing, et al. , Nature communications, 2016, Volume 7, p.10713, (2016) Abstract
Association of the IGF1 gene with fasting insulin levels., Willems, Sara M., Cornes Belinda K., Brody Jennifer A., Morrison Alanna C., Lipovich Leonard, Dauriz Marco, Chen Yuning, Liu Ching-Ti, Rybin Denis V., Gibbs Richard A., et al. , European journal of human genetics : EJHG, 2016 Feb 10, (2016) Abstract
Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death., Boone, Philip M., Yuan Bo, Gu Shen, Ma Zhiwei, Gambin Tomasz, Gonzaga-Jauregui Claudia, Jain Mahim, Murdock Todd J., White Janson J., Jhangiani Shalini N., et al. , Molecular genetics & genomic medicine, 2016 Jan, Volume 4, Issue 1, p.77-94, (2016) 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
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia due to Bi-allelic TANGO2 Mutations., Lalani, Seema R., Liu Pengfei, Rosenfeld Jill A., Watkin Levi B., Chiang Theodore, Leduc Magalie S., Zhu Wenmiao, Ding Yan, Pan Shujuan, Vetrini Francesco, et al. , American journal of human genetics, 2016 Jan 19, (2016) Abstract
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
Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions., Yu, Fuli, Lu Jian, Liu Xiaoming, Gazave Elodie, Chang Diana, Raj Srilakshmi, Hunter-Zinck Haley, Blekhman Ran, Arbiza Leonardo, Van Hout Cris, et al. , PloS one, 2015, Volume 10, Issue 3, p.e0121644, (2015) 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
Targeted sequencing in chromosome 17q linkage region identifies familial glioma candidates in the Gliogene Consortium., Jalali, Ali, Amirian Susan E., Bainbridge Matthew N., Armstrong Georgina N., Liu Yanhong, Tsavachidis Spyros, Jhangiani Shalini N., Plon Sharon E., Lau Ching C., Claus Elizabeth B., et al. , Scientific reports, 2015, Volume 5, p.8278, (2015) Abstract
Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility., Wessel, Jennifer, Chu Audrey Y., Willems Sara M., Wang Shuai, Yaghootkar Hanieh, Brody Jennifer A., Dauriz Marco, Hivert Marie-France, Raghavan Sridharan, Lipovich Leonard, et al. , Nature communications, 2015, Volume 6, p.5897, (2015) Abstract
Rise and fall of subclones from diagnosis to relapse in pediatric B-acute lymphoblastic leukaemia., Ma, Xiaotu, Edmonson Michael, Yergeau Donald, Muzny Donna M., Hampton Oliver A., Rusch Michael, Song Guangchun, Easton John, Harvey Richard C., Wheeler David A., et al. , Nature communications, 2015, Volume 6, p.6604, (2015) Abstract
PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations., Wang, Min, Beck Christine R., English Adam C., Meng Qingchang, Buhay Christian, Han Yi, Doddapaneni Harsha V., Yu Fuli, Boerwinkle Eric, Lupski James R., et al. , BMC genomics, 2015, Volume 16, Issue 1, p.214, (2015) Abstract
Lucilia cuprina genome unlocks parasitic fly biology to underpin future interventions., Anstead, Clare A., Korhonen Pasi K., Young Neil D., Hall Ross S., Jex Aaron R., Murali Shwetha C., Hughes Daniel S. T., Lee Siu F., Perry Trent, Stroehlein Andreas J., et al. , Nature communications, 2015, Volume 6, p.7344, (2015) Abstract
Structure and function of the healthy pre-adolescent pediatric gut microbiome., Hollister, Emily B., Riehle Kevin, Luna Ruth Ann, Weidler Erica M., Rubio-Gonzales Michelle, Mistretta Toni-Ann, Raza Sabeen, Doddapaneni Harsha V., Metcalf Ginger A., Muzny Donna M., et al. , Microbiome, 2015, Volume 3, p.36, (2015) Abstract
High-Quality Draft Genome Sequence of Francisella tularensis subsp. holarctica Strain OR96-0246., Atkins, L. M., Holder M. E., Ajami N. J., Metcalf G. A., Weissenberger G. M., Wang M., Vee V., Han Y., Muzny D. M., Gibbs R. A., et al. , Genome announcements, 2015, Volume 3, Issue 4, (2015) Abstract
FBN1 contributing to familial congenital diaphragmatic hernia., Beck, Tyler F., Campeau Philippe M., Jhangiani Shalini N., Gambin Tomasz, Li Alexander H., Abo-Zahrah Reem, Jordan Valerie K., Hernandez-Garcia Andres, Wiszniewski Wojciech K., Muzny Donna, et al. , American journal of medical genetics. Part A, 2015 Apr, Volume 167, Issue 4, p.831-6, (2015) Abstract
Assessing structural variation in a personal genome-towards a human reference diploid genome., English, Adam C., Salerno William J., Hampton Oliver A., Gonzaga-Jauregui Claudia, Ambreth Shruthi, Ritter Deborah I., Beck Christine R., Davis Caleb F., Dahdouli Mahmoud, Ma Singer, et al. , BMC genomics, 2015 Apr 11, Volume 16, Issue 1, p.286, (2015) Abstract
Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis., Pehlivan, Davut, Akdemir Zeynep Coban, Karaca Ender, Bayram Yavuz, Jhangiani Shalini, Yildiz Edibe Pembegul, Muzny Donna, Uluc Kayihan, Gibbs Richard A., Elcioglu Nursel, et al. , Human genetics, 2015 Apr 17, (2015) Abstract
COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis., Watkin, Levi B., Jessen Birthe, Wiszniewski Wojciech, Vece Timothy J., Jan Max, Sha Youbao, Thamsen Maike, Santos-Cortez Regie L. P., Lee Kwanghyuk, Gambin Tomasz, et al. , Nature genetics, 2015 Apr 20, (2015) Abstract
The genomes of two key bumblebee species with primitive eusocial organization., Sadd, Ben M., Barribeau Seth M., Bloch Guy, de Graaf Dirk C., Dearden Peter, Elsik Christine G., Gadau Jürgen, Grimmelikhuijzen Cornelis J. P., Hasselmann Martin, Lozier Jeffrey D., et al. , Genome biology, 2015 Apr 24, Volume 16, Issue 1, p.76, (2015) 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
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy., Gonzaga-Jauregui, Claudia, Harel Tamar, Gambin Tomasz, Kousi Maria, Griffin Laurie B., Francescatto Ludmila, Ozes Burcak, Karaca Ender, Jhangiani Shalini N., Bainbridge Matthew N., et al. , Cell reports, 2015 Aug 18, Volume 12, Issue 7, p.1169-83, (2015) Abstract


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