User profiles for D. Muzny

donna muzny

Baylor College of Med
Verified email at bcm.edu
Cited by 238281

The Genome Sequence of Drosophila melanogaster

…, SM Mount, M Moy, B Murphy, L Murphy, DM Muzny… - Science, 2000 - science.org
The fly Drosophila melanogaster is one of the most intensively studied organisms in biology
and serves as a model system for the investigation of many developmental and cellular …

[PDF][PDF] The genetic basis of Mendelian phenotypes: discoveries, challenges, and opportunities

…, KE Patterson, F Reinier, E Blue, D Muzny… - The American Journal of …, 2015 - cell.com
Discovering the genetic basis of a Mendelian phenotype establishes a causal link between
genotype and phenotype, making possible carrier and population screening and direct …

Insights into genetics, human biology and disease gleaned from family based genomic studies

…, PD Witmer, C Boehm, VR Sutton, DM Muzny… - Genetics in …, 2019 - nature.com
… (d) MyGene2 is a database through which patients and families can directly share their
genomic data. Matchbox is an open-source tool through which institutions or groups with …

Somatic mutations affect key pathways in lung adenocarcinoma

…, K Cibulskis, C Sougnez, H Greulich, DM Muzny… - Nature, 2008 - nature.com
Determining the genetic basis of cancer requires comprehensive analyses of large collections
of histopathologically well-classified primary tumours. Here we report the results of a …

The genome of the social amoeba Dictyostelium discoideum

…, D Muzny, T Mourier, A Pain, M Lu, D Harper… - Nature, 2005 - nature.com
The social amoebae are exceptional in their ability to alternate between unicellular and
multicellular forms. Here we describe the genome of the best-studied member of this group, …

[PDF][PDF] Comprehensive and integrative genomic characterization of hepatocellular carcinoma

…, D Muzny, HV Doddapaneni, J Hu, M Wang, D Morton… - Cell, 2017 - cell.com
Liver cancer has the second highest worldwide cancer mortality rate and has limited
therapeutic options. We analyzed 363 hepatocellular carcinoma (HCC) cases by whole-exome …

Patterns and rates of exonic de novo mutations in autism spectrum disorders

…, O Jabado, Z Peralta, U Nagaswamy, D Muzny… - Nature, 2012 - nature.com
Autism spectrum disorders (ASD) are believed to have genetic and environmental origins,
yet in only a modest fraction of individuals can specific causes be identified 1 , 2 . To identify …

[HTML][HTML] The complete genome of an individual by massively parallel DNA sequencing

…, X Song, Y Liu, Y Yuan, L Nazareth, X Qin, DM Muzny… - nature, 2008 - nature.com
… Here we report the DNA sequence of a diploid genome of a single individual, James D.
Watson, sequenced to 7.4-fold redundancy in two months using massively parallel sequencing …

[PDF][PDF] The genome of the model beetle and pest Tribolium castaneum.

…, S Roth, R Schröder, D Tautz, EM Zdobnov, D Muzny… - Nature, 2008 - serval.unil.ch
Tribolium castaneum is a member of the most species-rich eukaryotic order, a powerful model
organism for the study of generalized insect development, and an important pest of stored …

Evolutionary and biomedical insights from the rhesus macaque genome

…, S Lee, LR Lewis, Z Li, Y Liu, SM Moore, D Muzny… - science, 2007 - science.org
The rhesus macaque (Macaca mulatta) is an abundant primate species that diverged from
the ancestors of Homo sapiens about 25 million years ago. Because they are genetically and …