Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Donna M Muzny

Showing results (1-10 of 301) with videos related to

Pageof 31
Sort By:
American Journal of Medical Genetics. Part A|May 13, 2016
Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE)Weimin Bi, Ian A Glass, Donna M Muzny, et al.
Microbiome|March 13, 2015
16S gut community of the Cameron County Hispanic CohortMatthew C Ross, Donna M Muzny, Joseph B McCormick, et al.
Standards in Genomic Sciences|September 9, 2014
Draft genome sequences and description of Lactobacillus rhamnosus strains L31, L34, and L35Prapaporn Boonma, Jennifer K Spinler, Xiang Qin, et al.
Genome Biology|July 27, 2011
Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densitiesMatthew N Bainbridge, Min Wang, Yuanqing Wu, et al.
European Journal of Human Genetics : EJHG|July 3, 2014
Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican populationClaudia Gonzaga-Jauregui, Candace N Gamble, Bo Yuan, et al.
Science Advances|September 8, 2016
Loss-of-function variants influence the human serum metabolomeBing Yu, Alexander H Li, Ginger A Metcalf, et al.
Plos Neglected Tropical Diseases|October 3, 2012
Whole genome sequence of Treponema pallidum ssp. pallidum, strain Mexico A, suggests recombination between yaws and syphilis strainsHelena Pětrošová, Marie Zobaníková, Darina Čejková, et al.
Biorxiv : the Preprint Server for Biology|January 23, 2026
Expanding the Genome in a Bottle Truth Set: Detection and Validation of Novel Low-frequency Variants Using High-accuracy NanoSeqYang Zhang, Hsu Chao, Muchun Niu, et al.
American Journal of Medical Genetics. Part A|August 12, 2011
Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyriaDavid R Murdock, Gary D Clark, Matthew N Bainbridge, et al.
Genome Biology|November 26, 2010
Genetic diversity in India and the inference of Eurasian population expansionJinchuan Xing, W Scott Watkins, Ya Hu, et al.
Pageof 31

Showing results (1-10 of 301) with videos related to

Sort By:
Pageof 31
American Journal of Medical Genetics. Part A|May 13, 2016
Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE)Weimin Bi, Ian A Glass, Donna M Muzny, et al.
Microbiome|March 13, 2015
16S gut community of the Cameron County Hispanic CohortMatthew C Ross, Donna M Muzny, Joseph B McCormick, et al.
Standards in Genomic Sciences|September 9, 2014
Draft genome sequences and description of Lactobacillus rhamnosus strains L31, L34, and L35Prapaporn Boonma, Jennifer K Spinler, Xiang Qin, et al.
Genome Biology|July 27, 2011
Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densitiesMatthew N Bainbridge, Min Wang, Yuanqing Wu, et al.
European Journal of Human Genetics : EJHG|July 3, 2014
Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican populationClaudia Gonzaga-Jauregui, Candace N Gamble, Bo Yuan, et al.
Science Advances|September 8, 2016
Loss-of-function variants influence the human serum metabolomeBing Yu, Alexander H Li, Ginger A Metcalf, et al.
Plos Neglected Tropical Diseases|October 3, 2012
Whole genome sequence of Treponema pallidum ssp. pallidum, strain Mexico A, suggests recombination between yaws and syphilis strainsHelena Pětrošová, Marie Zobaníková, Darina Čejková, et al.
Biorxiv : the Preprint Server for Biology|January 23, 2026
Expanding the Genome in a Bottle Truth Set: Detection and Validation of Novel Low-frequency Variants Using High-accuracy NanoSeqYang Zhang, Hsu Chao, Muchun Niu, et al.
American Journal of Medical Genetics. Part A|August 12, 2011
Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyriaDavid R Murdock, Gary D Clark, Matthew N Bainbridge, et al.
Genome Biology|November 26, 2010
Genetic diversity in India and the inference of Eurasian population expansionJinchuan Xing, W Scott Watkins, Ya Hu, et al.
Pageof 31